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1. Cordeiro CA, Oréfice F, Lasmar EP, Santos HH, Valadares ER: [Cornea verticillata - a clinical marker of Fabry disease: case report]. Arq Bras Oftalmol; 2007 Jul-Aug;70(4):701-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Cornea verticillata - a clinical marker of Fabry disease: case report].
  • Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity.
  • The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations.
  • A family with Fabry's disease including 2 female patients and 3 male patients is reported.
  • Cornea verticillata was a constant finding in all patients.
  • This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.
  • [MeSH-major] Corneal Opacity / enzymology. Fabry Disease / enzymology. alpha-Galactosidase / blood

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  • [CommentIn] Arq Bras Oftalmol. 2008 Mar-Apr;71(2):300; author reply 300 [18516439.001]
  • (PMID = 17906770.001).
  • [ISSN] 0004-2749
  • [Journal-full-title] Arquivos brasileiros de oftalmologia
  • [ISO-abbreviation] Arq Bras Oftalmol
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Brazil
  • [Chemical-registry-number] 0 / Biomarkers; EC 3.2.1.22 / alpha-Galactosidase
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2. Cybulla M, Walter K, Neumann HP, Widmer U, Schärer M, Sunder-Plassmann G, Jansen T, Rolfs A, Beck M: [Fabry disease: demographic data since introduction of enzyme replacement therapy]. Dtsch Med Wochenschr; 2007 Jul 5;132(28-29):1505-9
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  • [Title] [Fabry disease: demographic data since introduction of enzyme replacement therapy].
  • BACKGROUND AND OBJECTIVE: Fabry's disease is a rare, X-chromosome linked recessive lysosomal storage disorder.
  • The disease not only markedly impairs the quality of life but also shortens life expectancy if untreated.
  • As it is a rare and not widely known disease with considerable variability of its symptoms it is often not or only belatedly diagnosed.
  • It was the aim of this study to analyse the demography and clinical expression of the disease.
  • PATIENTS AND METHODS: Data were obtained from the Fabry Outcome Survey (FOS), a Europe-wide data bank for the documentation of the disease's clinical course, on 262 patients (130 males, 132 females; mean age 37.5 and 34 years, respectively on entry in the FOS) in Germany, Switzerland and Austria.
  • RESULTS: Typical symptoms - acroparesthesias, joint pain, hypohidrosis, fever and angiokeratoma - have their onset in childhood (mean age nine years).
  • Main causes of morbidity and death in Fabry's disease are involvement of the kidneys or heart, the one or other occurring in 75% of patients.
  • CONCLUSIONS: It is of great importance for the prognosis and quality that Fabry's disease is diagnosed as early as possible and treated adequately before the onset of organ damage.
  • If the listed symptoms by themselves remain unexplained, Fabry's disease should be considered in the differential diagnosis.
  • National and international observational studies, such as the FOS, significantly contribute to gaining important clinical data on this heterogeneous disease.
  • [MeSH-major] Fabry Disease / drug therapy. Fabry Disease / epidemiology


3. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB, FOS Investigators: Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol; 2007 Aug;157(2):331-7
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  • [Title] Fabry disease and the skin: data from FOS, the Fabry outcome survey.
  • BACKGROUND: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
  • OBJECTIVES: To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.
  • METHODS: We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.
  • RESULTS: We confirm that the commonest disease manifestation is angiokeratoma.
  • Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females).
  • We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system.
  • CONCLUSIONS: The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease.
  • The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.
  • [MeSH-major] Fabry Disease / complications. Skin Diseases / etiology
  • [MeSH-minor] Adolescent. Adult. Age Factors. Angiokeratoma / epidemiology. Angiokeratoma / etiology. Angiokeratoma / pathology. Child. Europe / epidemiology. Female. Humans. Hypohidrosis / epidemiology. Hypohidrosis / etiology. Lymphedema / epidemiology. Lymphedema / etiology. Male. Middle Aged. Prevalence. Severity of Illness Index. Sex Factors. Skin Neoplasms / epidemiology. Skin Neoplasms / etiology. Skin Neoplasms / pathology. Telangiectasis / epidemiology. Telangiectasis / etiology. Telangiectasis / pathology


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4. Cybulla M, Schaefer E, Wendt S, Ling H, Kröber SM, Hövelborn U, Schandelmaier S, Rohrbach R, Neumann HP: Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. Am J Kidney Dis; 2005 May;45(5):e82-9
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  • [Title] Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
  • The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced.
  • We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities.
  • Because 1 brother, who died years ago at the age of 32 years of acute myeloid leukemia, also had chronic renal failure and proteinuria, the diagnosis of Fabry disease was entertained.
  • In the index patient, acroparesthesia, hypohidrosis, pain, angiokeratomas of the skin, and cornea verticillata suggesting Fabry disease were absent.
  • In the brother who died, Fabry disease, missed at autopsy because of cancer-related findings, could be confirmed after repeated review of histological slides.
  • We conclude that familial chronic renal failure combined with proteinuria is suggestive of Fabry disease, and such specific mutations as E66K predominantly may affect the kidneys.
  • [MeSH-major] Fabry Disease / complications. Kidney Failure, Chronic / etiology. Proteinuria / etiology

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  • (PMID = 15861341.001).
  • [ISSN] 1523-6838
  • [Journal-full-title] American journal of kidney diseases : the official journal of the National Kidney Foundation
  • [ISO-abbreviation] Am. J. Kidney Dis.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; AYI8EX34EU / Creatinine
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5. Berk DR, Lind AC, Bayliss SJ: Acral angiokeratomas in a patient with Turner syndrome. Pediatr Dermatol; 2010 Nov-Dec;27(6):662-4
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  • [Title] Acral angiokeratomas in a patient with Turner syndrome.
  • Angiokeratomas have rarely been reported in patients with Turner syndrome.
  • Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma.
  • [MeSH-major] Angiokeratoma / complications. Angiokeratoma / pathology. Skin Neoplasms / complications. Skin Neoplasms / pathology. Turner Syndrome / complications

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  • [Copyright] © 2010 Wiley Periodicals, Inc.
  • (PMID = 21510021.001).
  • [ISSN] 1525-1470
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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6. Seo SH, Chin HW, Sung HW: Angiokeratoma of Fordyce treated with 0.5% ethanolamine oleate or 0.25% sodium tetradecyl sulfate. Dermatol Surg; 2010 Oct;36(10):1634-7
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  • [Title] Angiokeratoma of Fordyce treated with 0.5% ethanolamine oleate or 0.25% sodium tetradecyl sulfate.
  • [MeSH-major] Angiokeratoma / therapy. Oleic Acids / administration & dosage. Sclerosing Solutions / administration & dosage. Sclerotherapy / methods. Sodium Tetradecyl Sulfate / administration & dosage

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  • (PMID = 21053421.001).
  • [ISSN] 1524-4725
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oleic Acids; 0 / Sclerosing Solutions; 0 / Surface-Active Agents; 3282-75-5 / ethanolamine oleate; Q1SUG5KBD6 / Sodium Tetradecyl Sulfate
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7. Pierre-Louis B, Kumar A, Frishman WH: Fabry disease: cardiac manifestations and therapeutic options. Cardiol Rev; 2009 Jan-Feb;17(1):31-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: cardiac manifestations and therapeutic options.
  • Fabry disease is a rare inherited lysosomal storage disorder caused by the partial or complete deficiency of the lysosomal enzyme alpha galactosidase A (alpha-Gal A), resulting in excess cellular glycosphingolipid deposition.
  • Disease transmission is X-linked, therefore it predominantly affects males and females as asymptomatic carriers.
  • However, females may also develop symptomatic disease of varying severity.
  • Glycosphingolipid deposition in various tissues leads to episodic pain crises and acroparesthesias, gastrointestinal disturbances, angiokeratomas, corneal, and lenticular opacities, and eventually in the third to fifth decades of life, the kidney, heart and central nervous system are involved.
  • Cardiac involvement is usually part of the multisystem disorder and presents in the fourth decade with other organ manifestations; however, a variant of Fabry disease with predominant cardiac manifestations has also been recognized.
  • Advanced cardiac disease may require a permanent pacemaker and cardiac transplant.
  • Substrate inhibition with enzyme replacement therapy and gene therapy instituted early in the disease course might slow progression of the cardiac manifestations.
  • [MeSH-major] Fabry Disease / complications. Heart Diseases / etiology


8. Nance CS, Klein CJ, Banikazemi M, Dikman SH, Phelps RG, McArthur JC, Rodriguez M, Desnick RJ: Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch Neurol; 2006 Mar;63(3):453-7
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  • [Title] Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.
  • BACKGROUND: Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy.
  • Later-onset variants with residual alpha-galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life.
  • RESULTS: Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
  • CONCLUSION: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease.
  • [MeSH-major] Fabry Disease / complications. Neuromuscular Diseases / etiology


9. Turkmen M, Kavukçu S, Çakmakci H, Soylu A, Aktan S, Çağan Y: A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. Int Urol Nephrol; 2010 Sep;42(3):575-8
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  • We present a girl of KTWS associated with hypertrophied left kidney, enlargement in venous structures of the left kidney, recurrent bloody vaginal discharge and angiokeratomas.
  • Angiokeratoma may be considered as a dermatological finding of KTWS.

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  • (PMID = 19768566.001).
  • [ISSN] 1573-2584
  • [Journal-full-title] International urology and nephrology
  • [ISO-abbreviation] Int Urol Nephrol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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10. Pianezza ML, Singh D, Van der Kwast T, Jarvi K: Rare case of recurrent angiokeratoma of Fordyce on penile shaft. Urology; 2006 Oct;68(4):891.e1-3
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  • [Title] Rare case of recurrent angiokeratoma of Fordyce on penile shaft.
  • Angiokeratomas are benign cutaneous vascular lesions characterized by dilated thin-walled blood vessels lying in the upper part of the dermis, mostly associated with an epidermal reaction such as acanthosis and/or hyperkeratosis.
  • Angiokeratomas of Fordyce are predominantly located on the scrotum and are only rarely found on the penis and then usually on the glans penis.
  • We report a rare case of angiokeratoma of Fordyce located on the shaft of the penis and associated with two recurrences after appropriate surgical excision.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 17070385.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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11. Demarin V, Kes VB, Bitunjac M, Ivanković M: Neurological manifestation of Fabry disease--a case report. Coll Antropol; 2009 Dec;33 Suppl 2:177-9
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  • [Title] Neurological manifestation of Fabry disease--a case report.
  • Fabry disease is an X-linked recessive glycolipid storage disease.
  • Angiokeratomas, neuropathic pain and ischemic stroke in young age suggested a Fabry disease.
  • All young adults with stroke, especially if they have additional symptoms like angiokeratomas, proteinuria, neuropathic pain in toes and fingers should be tested for Fabry disease.
  • [MeSH-major] Fabry Disease / pathology. Pons / pathology. Stroke / etiology
  • [MeSH-minor] Adult. Croatia. Diagnostic Errors. Diplopia / etiology. Humans. Male. Neuralgia / etiology. Pedigree. Polymyositis / diagnosis. Raynaud Disease / diagnosis. Vasculitis / diagnosis. Vertigo / etiology


12. Liapis A, Bakalianou K, Salakos N, Iavazzo C, Dalainas I, Kondi-Pafiti A: Vascular tumors: rare neoplasms of the female genital tract. Eur J Gynaecol Oncol; 2009;30(2):220-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • More specifically, we identified one patient with angiomyxoma, five patients with angiokeratoma, one patient with vascular malformation, two with cervical hemangioma, two with hemangioma of the uterus and two with ovarian hemangioma.
  • [MeSH-minor] Adult. Aged. Angiokeratoma / pathology. Female. Hemangioma / pathology. Humans. Middle Aged. Myxoma / pathology

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  • (PMID = 19480262.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
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13. Kes P, Basić-Jukić N, Brunetta B, Jurić I: [Anderson-Fabry disease]. Acta Med Croatica; 2006;60(1):55-8
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  • [Title] [Anderson-Fabry disease].
  • Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A.
  • The overall prevalence of Anderson-Fabry disease is 1:117.00 or 1: 40.000 in (male) population.
  • Typically, the clinical onset of Anderson-Fabry disease occurs during childhood or adolescence, with early symptoms of neuropathic pain (recurrent episodes of severe pain in the extremities), angiokeratomas (characteristic cutaneous lesions), oedematous upper eyelids, peripheral vasospasm and ophthalmological abnormalities.
  • The disease progresses through adulthood and by the age of 30-40 years several major organ systems may be affected; cardiac disease, renal insufficiency, cerebrovascular attacks and neurologic findings are common.
  • [MeSH-major] Fabry Disease

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  • (PMID = 16802573.001).
  • [ISSN] 1330-0164
  • [Journal-full-title] Acta medica Croatica : c̆asopis Hravatske akademije medicinskih znanosti
  • [ISO-abbreviation] Acta Med Croatica
  • [Language] hrv
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Croatia
  • [Number-of-references] 22
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14. Rákóczi E, Görögh S, Grubits J, Erdos M, Garzuly F, Hahn K, Bencsik K, Vécsei L, Trinn C, Kristóf E, Mogyorósy G, Tóth B, Maródi L: [Molecular pathology and clinical manifestations of Fabry disease]. Orv Hetil; 2007 Jun 10;148(23):1087-94
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Molecular pathology and clinical manifestations of Fabry disease].
  • Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme.
  • Major clinical manifestations include acroparesthesis, angiokeratoma, corneal opacities, vascular diseases of the heart, kidney, and the central nervous system.
  • In this review the authors describe clinical features of Fabry disease in 31 Hungarian patients.
  • The most common disease-specific manifestation was angiokeratoma in males, and eye symptoms in females.
  • Genotyping was performed in all cases and disease-causing mutations were found in all families.
  • [MeSH-major] Fabry Disease / diagnosis. Fabry Disease / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Angiokeratoma / etiology. Brain Ischemia / etiology. Child. Child, Preschool. Female. Genetic Predisposition to Disease. Heterozygote. Homozygote. Humans. Kidney / pathology. Male. Middle Aged. Proteinuria / etiology

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  • (PMID = 17545117.001).
  • [ISSN] 0030-6002
  • [Journal-full-title] Orvosi hetilap
  • [ISO-abbreviation] Orv Hetil
  • [Language] hun
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Hungary
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15. Civaş E, Koç E, Aksoy B, Aksoy HM: Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser. Photodermatol Photoimmunol Photomed; 2009 Jun;25(3):166-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser.
  • Various laser treatment modalities for angiokeratomas have been reported in the literature.
  • A 60-year-old male patient presented for the treatment of multiple angiokeratomas of the scrotum and a 56-year-old female patient presented for the treatment of vulvar angiokeratomas.
  • Nd:YAG laser treatment yielded successful results in the treatment of our patients' scrotal and vulvar angiokeratomas following two application sessions.
  • We suggest that a long-pulsed Nd:YAG laser is a safe and effective method for the treatment of angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / therapy. Genital Diseases, Male / therapy. Laser Therapy. Scrotum / pathology. Vulvar Diseases / therapy

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  • (PMID = 19439000.001).
  • [ISSN] 1600-0781
  • [Journal-full-title] Photodermatology, photoimmunology & photomedicine
  • [ISO-abbreviation] Photodermatol Photoimmunol Photomed
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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16. Karetova D, Bultas J, Dostalova G, Palecek T, Kovarnik T, Golan L, Linhart A: Fabry disease - Vascular manifestations. Vasa; 2010 May;39(2):123-31
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease - Vascular manifestations.
  • Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by the deficient activity of alpha-galactosidase A which results in the accumulation of neutral glycosphingolipids in various tissues leading particularly to vasculopathy, cardiomyopathy, neuropathy, and chronic kidney disease.
  • Although there are some signs and symptoms suggestive of FD including painful crisis, angiokeratomas, and corneal changes, the majority of FD complications are non-specific (left ventricular hypertrophy, conduction abnormalities, vascular spasms, proteinuria, renal insufficiency), which is why FD still remains largely underdiagnosed.
  • [MeSH-major] Fabry Disease / complications. Vascular Diseases / etiology

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  • (PMID = 20464667.001).
  • [ISSN] 0301-1526
  • [Journal-full-title] VASA. Zeitschrift für Gefässkrankheiten
  • [ISO-abbreviation] VASA
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Glycosphingolipids; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 59
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17. Kanitakis J, Allombert C, Doebelin B, Deroo-Berger MC, Grande S, Blanc S, Claudy A: Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. J Cutan Pathol; 2005 Aug;32(7):506-11
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  • [Title] Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.
  • Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency.
  • It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum.
  • We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy.
  • The salient clinicopathological features of this disease are briefly reviewed.
  • [MeSH-major] Fabry Disease / pathology. Fucosidosis / pathology. Skin / pathology

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  • (PMID = 16008696.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Biomarkers; EC 3.2.1.51 / alpha-L-Fucosidase
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18. Sierra-Luzuriaga G, Sierra-Montenegro E, Carrillo-Vedova C, Leone-Stay G: [Intergluteal angiokeratoma circumscriptum. Report of one case]. Cir Cir; 2006 Sep-Oct;74(5):373-5
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  • [Title] [Intergluteal angiokeratoma circumscriptum. Report of one case].
  • [Transliterated title] Angioqueratoma circunscrito interglúteo. Reporte de un caso.
  • BACKGROUND: The term angiokeratoma is applied to several diseases with cutaneous vascular lesions.
  • DISCUSSION: Five types of angiokeratomas have been described (angiokeratoma corporis diffusum, angiokeratoma of Mibelli, angiokeratoma of Fordyce, solitary angiokeratoma and angiokeratoma corporal circumscriptum).
  • This patient was identified with an angiokeratoma circumscriptum by pathological and physical characteristics of the tumor.
  • Differential diagnosis is with verrucous hemangioma and the Fabry disease type II (angiokeratoma corporis diffusum).
  • [MeSH-major] Angiokeratoma / surgery. Skin Neoplasms / surgery

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  • (PMID = 17224109.001).
  • [ISSN] 0009-7411
  • [Journal-full-title] Cirugía y cirujanos
  • [ISO-abbreviation] Cir Cir
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Mexico
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19. Germain DP: Fabry disease. Orphanet J Rare Dis; 2010;5:30
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  • [Title] Fabry disease.
  • Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
  • FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease.
  • Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe.
  • A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated.
  • End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population.
  • While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones.
  • [MeSH-major] Fabry Disease. alpha-Galactosidase / genetics

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  • (PMID = 21092187.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
  • [Other-IDs] NLM/ PMC3009617
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20. Albano LM, Rivitti C, Bertola DR, Honjo RS, Kelmann SV, Giugliani R, Kim CA: Angiokeratoma: a cutaneous marker of Fabry's disease. Clin Exp Dermatol; 2010 Jul;35(5):505-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma: a cutaneous marker of Fabry's disease.
  • The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis.
  • A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29).
  • [MeSH-major] Angiokeratoma / pathology. Fabry Disease / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Biopsy. Child. Female. Genetic Predisposition to Disease. Humans. Male. Middle Aged. Pedigree. Young Adult

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  • (PMID = 19843083.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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21. Ramaswami U: Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa. Acta Paediatr; 2008 Apr;97(457):38-40
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  • [Title] Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa.
  • Fabry disease is a rare X-linked disorder that leads to widespread and progressive disease manifestations, with patients at risk of premature mortality as a result of renal, cardiovascular or cerebrovascular complications.
  • In recent years there has been a growing awareness that the first signs and symptoms of Fabry disease may begin during childhood.
  • Studies show that clinical manifestations such as pain, hypohidrosis, gastrointestinal disturbances, angiokeratomas, cornea verticillata and acroparaesthesiae may be common in childhood and that such manifestations may become apparent during the first few years of life.
  • Interest is now focused on whether enzyme replacement therapy can slow or prevent the onset of these disease manifestations.
  • Preliminary data from two studies suggest that treatment with agalsidase alfa is well tolerated in children and that it may have beneficial clinical effects; however, further research is needed to determine whether enzyme replacement therapy can prevent the development of disease manifestations.
  • CONCLUSION: The manifestations of Fabry disease first become apparent during childhood.
  • It is well known that disease-associated manifestations are progressive; however, it has yet to be determined whether specific treatment with enzyme replacement therapy can prevent the development of the associated severe and life-threatening complications.
  • [MeSH-major] Fabry Disease / diagnosis. Fabry Disease / drug therapy. Isoenzymes / therapeutic use. alpha-Galactosidase / therapeutic use

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  • (PMID = 18339186.001).
  • [ISSN] 1651-2227
  • [Journal-full-title] Acta paediatrica (Oslo, Norway : 1992)
  • [ISO-abbreviation] Acta Paediatr.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Norway
  • [Chemical-registry-number] 0 / Isoenzymes; 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 14
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22. Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z: Cardiopulmonary exercise testing in Fabry disease. Respiration; 2005 Sep-Oct;72(5):504-11
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  • [Title] Cardiopulmonary exercise testing in Fabry disease.
  • BACKGROUND: Fabry disease is a rare X-linked disorder that results from a deficiency in a lysosomal enzyme known as alpha-galactosidase A, with accumulation of globotriaosylceramide (Gl3).
  • Early manifestations include angiokeratomas, acroparesthesias, and hypohidrosis and may progress to renal failure, cardiac dysfunction, and stroke.
  • OBJECTIVE: Our study evaluates the cardiopulmonary characteristics in a cohort of Fabry disease patients at rest and during exercise.
  • METHODS: Thirty-nine patients with a diagnosis of Fabry disease underwent a health screening history and physical examination, an electrocardiogram, an echocardiogram, pulmonary function testing (spirometry), and a non-invasive cardiopulmonary exercise test.
  • CONCLUSIONS: Our finding of a significant decrease in DBP in patients with Fabry disease may explain deficits in exercise tolerance.
  • It is notable that this abnormality is manifested in female patients, even though they are typically not as severely affected as males.
  • [MeSH-major] Exercise / physiology. Fabry Disease / physiopathology. Rest / physiology


23. Yaqoob N, Ahsan A, Ahmed Z, Husain A, Ahmed R, Kayani N, Pervez S, Hassan S: Angiokeratoma of tongue: a series of 14 cases. J Pak Med Assoc; 2006 Jun;56(6):285-7
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  • [Title] Angiokeratoma of tongue: a series of 14 cases.
  • Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
  • Only three other cases of isolated mucosal angiokeratoma have been reported in the indexed literature.
  • We reviewed all cases of angiokeratoma located on the tongue, diagnosed in our department during a study period of 10 years (1995-2005).
  • No clinical data was available to assess systemic disease.
  • [MeSH-major] Angiokeratoma / diagnosis. Tongue Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Fabry Disease / diagnosis. Female. Humans. Male

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  • (PMID = 16827254.001).
  • [ISSN] 0030-9982
  • [Journal-full-title] JPMA. The Journal of the Pakistan Medical Association
  • [ISO-abbreviation] J Pak Med Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Pakistan
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24. Zhang SH, Liu ZH, Zeng CH, Li SJ, Chen HP, Su J, Li LS: Fabry disease: renal biopsy-proven cases from China. J Nephrol; 2007 Nov-Dec;20(6):716-26
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  • [Title] Fabry disease: renal biopsy-proven cases from China.
  • BACKGROUND: Fabry disease is a rare metabolic disorder resulting from deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA).
  • Extrarenal manifestations, including acroparesthesia, hypohidrosis, abnormal electrocardiography and angiokeratoma were noted.
  • We identified a novel missense mutation (F273L) causing nonclassical Fabry disease.
  • CONCLUSIONS: Fabry disease is relatively rare in China.
  • Renal biopsy and specific staining is efficacious in the correct diagnosis of the disease.
  • Discrepancies in the clinical manifestations of Fabry disease (i.e., eye disorders and hypertension) exist between cases found in China and those detailed in Western reports.
  • [MeSH-major] Fabry Disease / pathology. Kidney Glomerulus / pathology

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  • (PMID = 18046674.001).
  • [ISSN] 1121-8428
  • [Journal-full-title] Journal of nephrology
  • [ISO-abbreviation] J. Nephrol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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26. Feramisco JD, Fournier JB, Zedek DC, Venna SS: Eruptive angiokeratomas on the glans penis. Dermatol Online J; 2009;15(10):14
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  • [Title] Eruptive angiokeratomas on the glans penis.
  • Angiokeratomas are benign proliferations of dilated thin-walled blood vessels in the upper dermis with overlying epidermal hyperkeratosis.
  • There are several clinical variants of angiokeratomas: 1.
  • Mibelli: hyperkeratotic papules on fingers or toes, solitary, multiple, or circumscriptum (grouped papules usually on an extremity); 4. angiokeratoma corporis diffusum, widespread papules that are a manifestation of one of several inherited lysozomal storage diseases.
  • Herein, we report a rare case of multiple angiokeratomas of Fordyce on the corona of the glans penis.
  • [MeSH-major] Angiokeratoma / pathology. Penile Neoplasms / pathology. Skin Neoplasms / pathology

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  • [ErratumIn] Dermatol Online J. 2010 Sep;16(9):17. Zedek, Daniel C [added]
  • (PMID = 19951632.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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27. Jansen T, Brokalaki E, Hillen U, Hentschke M, Grabbe S: [Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]. Dtsch Med Wochenschr; 2006 Jul 14;131(28-29):1590-3
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  • [Title] [Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy].
  • INVESTIGATIONS: The clinical features included angiokeratomas on the buttocks, hips, and periumbilical region, whorl-like corneal opacity (cornea verticillata), and mitral valve prolapse.
  • CONCLUSION: Fabry disease results from deficient activity of the enzyme alpha-galactosidase A.
  • [MeSH-major] Fabry Disease / drug therapy. alpha-Galactosidase / genetics
  • [MeSH-minor] Abdomen. Adult. Angiokeratoma / etiology. Buttocks. Corneal Opacity / etiology. Female. Heterozygote. Hip. Humans. Isoenzymes / administration & dosage. Isoenzymes / therapeutic use. Mitral Valve Prolapse / etiology. Point Mutation. Skin Neoplasms / etiology

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  • (PMID = 16823707.001).
  • [ISSN] 0012-0472
  • [Journal-full-title] Deutsche medizinische Wochenschrift (1946)
  • [ISO-abbreviation] Dtsch. Med. Wochenschr.
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.22 / alpha-Galactosidase
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28. Möhrenschlager M, Henkel V, Ring J: Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge. Br J Dermatol; 2005 Jan;152(1):177-8; author reply 178-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge.
  • [MeSH-major] Angiokeratoma / diagnosis. Fabry Disease / drug therapy. Skin Neoplasms / diagnosis. alpha-Galactosidase / therapeutic use

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  • [CommentOn] Br J Dermatol. 2004 Mar;150(3):575-7 [15030345.001]
  • (PMID = 15656825.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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29. Wattanasirichaigoon D, Svasti J, Cairns JR, Tangnararatchakit K, Visudtibhan A, Keeratichamroen S, Ngiwsara L, Khowsathit P, Onkoksoong T, Lekskul A, Mongkolsiri D, Jariengprasert C, Thawil C, Ruencharoen S: Clinical and molecular characterization of an extended family with Fabry disease. J Med Assoc Thai; 2006 Sep;89(9):1528-35
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical and molecular characterization of an extended family with Fabry disease.
  • MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study.
  • None had angiokeratoma or renal symptoms.
  • CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.
  • [MeSH-major] Fabry Disease / genetics. Family. alpha-Galactosidase / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Amino Acid Substitution. Angiokeratoma / etiology. Child. Child, Preschool. DNA Mutational Analysis. Female. Humans. Male. Mutation, Missense. Pedigree. Renal Insufficiency / etiology

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  • (PMID = 17100396.001).
  • [ISSN] 0125-2208
  • [Journal-full-title] Journal of the Medical Association of Thailand = Chotmaihet thangphaet
  • [ISO-abbreviation] J Med Assoc Thai
  • [Language] eng
  • [Databank-accession-numbers] OMIM/ 301500
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Thailand
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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30. Fauchais AL, Prey S, Ouatara B, Vidal E, Sparsa A: Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? J Eur Acad Dermatol Venereol; 2010 Jun;24(6):737-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker?
  • [MeSH-major] Angiokeratoma / drug therapy. Enzyme Replacement Therapy / methods. Fabry Disease / drug therapy. Isoenzymes / therapeutic use. Skin Neoplasms / drug therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 19925601.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
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31. Kontogianni-Katsaros K, Kairi-Vassilatoy E, Grapsa D, Papadias K, Hasiakos D, Kondi-Pafitis A: Angiokeratoma of the vulva: a rare benign vascular tumor mimicking malignancy--case reports. Eur J Gynaecol Oncol; 2006;27(6):632-3
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  • [Title] Angiokeratoma of the vulva: a rare benign vascular tumor mimicking malignancy--case reports.
  • Angiokeratomas are rare benign dermal lesions of the external genital system and occur before the age of 50 years.
  • Four cases of angiokeratoma of the vulva diagnosed at our institution in a ten-year-period are reported and issues of the differential diagnosis are discussed.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology. Vulvar Diseases / pathology

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  • (PMID = 17290602.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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32. Mendióroz M, Fernández-Cadenas I, Montaner J: [Neurological manifestations of Fabry disease]. Rev Neurol; 2006 Dec 16-31;43(12):739-45
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  • [Title] [Neurological manifestations of Fabry disease].
  • AIM: To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease.
  • DEVELOPMENT: Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells.
  • Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults.
  • Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity.
  • Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease.
  • Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed.
  • CONCLUSIONS: Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction.
  • [MeSH-major] Fabry Disease / complications. Nervous System Diseases / etiology

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  • [CommentIn] Neurologia. 2014 Sep;29(7):442-3 [23582745.001]
  • (PMID = 17160925.001).
  • [ISSN] 0210-0010
  • [Journal-full-title] Revista de neurologia
  • [ISO-abbreviation] Rev Neurol
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Spain
  • [Chemical-registry-number] 0 / Isoenzymes; 0 / Recombinant Proteins; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 53
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33. Marchesoni CL, Roa N, Pardal AM, Neumann P, Cáceres G, Martínez P, Kisinovsky I, Bianchi S, Tarabuso AL, Reisin RC: Misdiagnosis in Fabry disease. J Pediatr; 2010 May;156(5):828-31
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Misdiagnosis in Fabry disease.
  • OBJECTIVE: To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.
  • STUDY DESIGN: We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females.
  • Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae.
  • CONCLUSIONS: Pediatricians as well as internists commonly misdiagnose Fabry disease.
  • Neuropathic pain, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include Fabry disease in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.
  • [MeSH-major] Diagnostic Errors. Fabry Disease / diagnosis

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  • (PMID = 20385321.001).
  • [ISSN] 1097-6833
  • [Journal-full-title] The Journal of pediatrics
  • [ISO-abbreviation] J. Pediatr.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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34. Al-Mutairi N, Joshi A, Nour-Eldin O: Naevus lipomatosus cutaneous superficialis of Hoffmann-Zurhelle with angiokeratoma of Fordyce. Acta Derm Venereol; 2006;86(1):92-3
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  • [Title] Naevus lipomatosus cutaneous superficialis of Hoffmann-Zurhelle with angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / diagnosis. Lipomatosis / diagnosis. Nevus / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16586009.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Norway
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35. Kouris NT, Kontogianni DD, Pavlou MT, Babalis DK: Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. Int J Cardiol; 2005 Mar 18;99(2):327-8
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  • [Title] Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
  • A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness.
  • Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A on laboratory examination.
  • It can therefore be concluded that even young patients with Fabry's disease and normal echocardiograms might develop cardiac symptoms due to AV conduction abnormalities.
  • [MeSH-major] Atrioventricular Node / physiopathology. Bradycardia / etiology. Fabry Disease / complications

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  • (PMID = 15749195.001).
  • [ISSN] 0167-5273
  • [Journal-full-title] International journal of cardiology
  • [ISO-abbreviation] Int. J. Cardiol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Ireland
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36. Kotnik J, Kotnik F, Desnick RJ: Fabry disease. A case report. Acta Dermatovenerol Alp Pannonica Adriat; 2005 Mar;14(1):15-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease. A case report.
  • Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A).
  • The first case of Fabry disease in Slovenia was diagnosed in 1991.
  • The diagnosis of angiokeratoma corporis diffusa (Fabry disease) was made clinically and confirmed by demonstration of the deficient leukocyte alpha-Gal A activity.
  • The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction.
  • This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy.
  • Early diagnosis is important for the most effective treatment of this disease.
  • [MeSH-major] Fabry Disease / complications. Fabry Disease / diagnosis. Kidney Failure, Chronic / etiology. Myocardial Infarction / etiology. Proteinuria / etiology
  • [MeSH-minor] Disease Progression. Fatal Outcome. Humans. Male. Middle Aged. Time Factors. alpha-Galactosidase / genetics

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  • (PMID = 15818441.001).
  • [ISSN] 1318-4458
  • [Journal-full-title] Acta dermatovenerologica Alpina, Pannonica, et Adriatica
  • [ISO-abbreviation] Acta Dermatovenerol Alp Pannonica Adriat
  • [Language] eng
  • [Grant] United States / NCRR NIH HHS / RR / 5 M01 RR00071; United States / NIDDK NIH HHS / DK / R29 DK 34045
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] Slovenia
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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37. Sahin MT, Türel-Ermertcan A, Oztürkcan S, Türkdogan P: Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis. J Eur Acad Dermatol Venereol; 2006 Jan;20(1):102-4
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  • [Title] Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis.
  • [MeSH-major] Angiokeratoma / diagnosis. Dermoscopy. Thrombosis / diagnosis

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  • (PMID = 16405622.001).
  • [ISSN] 0926-9959
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
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38. Khatami A, Ghorbani Z, Gorouhi F, Davari P, Firooz A: Angiokeratoma and epidermal nevus. Eur J Dermatol; 2008 Jan-Feb;18(1):100-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma and epidermal nevus.
  • [MeSH-major] Angiokeratoma / pathology. Nevus / pathology. Skin Neoplasms / pathology


39. Fernandez-Flores A, Sanroman J: Solitary angiokeratoma of the tonsillar pillar of the oral cavity. Rom J Morphol Embryol; 2009;50(1):115-7
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  • [Title] Solitary angiokeratoma of the tonsillar pillar of the oral cavity.
  • Solitary angiokeratoma has rarely been described in oral mucosa, mainly in the tongue, where the main concern is either aesthetical or due to bleeding problems.
  • We present a case of solitary angiokeratoma of the tonsillar pillar in a 68-year-old man.
  • Histologically, the morphology was typical of angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Mouth Neoplasms / pathology. Tonsillar Neoplasms / pathology

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  • (PMID = 19221656.001).
  • [ISSN] 1220-0522
  • [Journal-full-title] Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • [ISO-abbreviation] Rom J Morphol Embryol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Romania
  • [Chemical-registry-number] 0 / Antigens, CD; 0 / Antigens, CD31; 0 / Antigens, CD34; 9001-27-8 / Factor VIII
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40. Weidemann F, Strotmann JM, Breunig F, Niemann M, Maag R, Baron R, Eggert AO, Wanner C: Misleading terms in Anderson-Fabry disease. Eur J Clin Invest; 2008 Mar;38(3):191-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Misleading terms in Anderson-Fabry disease.
  • BACKGROUND: Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs.
  • MATERIALS AND METHODS: Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized examination programme was performed in all patients.
  • RESULTS: Among the 47 male and 53 female patients (mean age 41 +/- 16 years) with genetically proven disease, the Fabry-type vascular skin lesions were without hyperkeratotic aspect and keratomas were virtually absent.
  • CONCLUSIONS: Our findings suggest that some terms used to describe signs and symptoms of Fabry disease are historically derived and do not comply with state-of-the-art examination.
  • We propose to replace the term 'angiokeratoma' with 'angioma', the term 'acroparaesthesia' with 'neuropathic pain' and the term 'restrictive cardiomyopathy' with 'cardiac hypertrophic storage disease'.
  • As most of the physicians are not familiar with Fabry disease, terms used in the past might prevent the correct diagnosis of a potentially treatable disease.
  • [MeSH-major] Angiokeratoma / diagnosis. Cardiovascular Diseases / diagnosis. Fabry Disease / diagnosis. Paresthesia / diagnosis


41. Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S: Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer. ScientificWorldJournal; 2009;9:339-42
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  • [Title] Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer.
  • Angiokeratoma is a rare, benign skin lesion and a recognised complication of radiation therapy.
  • Here we describe a case of extensive angiokeratoma of the groin and external genitalia resulting from external beam radiation to that area in a patient with penile carcinoma.
  • [MeSH-major] Angiokeratoma / etiology. Radiotherapy / adverse effects. Skin Neoplasms / etiology

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  • (PMID = 19468654.001).
  • [ISSN] 1537-744X
  • [Journal-full-title] TheScientificWorldJournal
  • [ISO-abbreviation] ScientificWorldJournal
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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42. Noben-Trauth K, Neely H, Brady RO: Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease. Hear Res; 2007 Dec;234(1-2):10-4
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  • [Title] Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease.
  • Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the alpha-galactosidase gene (Gla).
  • Clinically the disorder presents with angiokeratomas, clouding of the cornea, and renal, cardiac, and cerebrovascular complications.
  • [MeSH-major] Cochlea / physiopathology. Fabry Disease / physiopathology. Hearing. alpha-Galactosidase / metabolism
  • [MeSH-minor] Acoustic Stimulation. Animals. Disease Models, Animal. Evoked Potentials, Auditory, Brain Stem. Female. Hearing Loss / enzymology. Hearing Loss / etiology. Hearing Loss / physiopathology. Male. Mice. Mice, Inbred C3H. Mice, Inbred C57BL. Mice, Knockout. RNA, Messenger / metabolism. Time Factors

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  • (PMID = 17933476.001).
  • [ISSN] 0378-5955
  • [Journal-full-title] Hearing research
  • [ISO-abbreviation] Hear. Res.
  • [Language] eng
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Intramural
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / RNA, Messenger; EC 3.2.1.22 / alpha-Galactosidase
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43. Capelo J, Soares C, Carragoso A, Ribeiro P, Girão F, Henriques P: [A family with a rare disease]. Acta Med Port; 2010 May-Jun;23(3):499-504
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  • [Title] [A family with a rare disease].
  • Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene.
  • The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations.
  • [MeSH-major] Fabry Disease / genetics

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  • (PMID = 20654270.001).
  • [ISSN] 1646-0758
  • [Journal-full-title] Acta médica portuguesa
  • [ISO-abbreviation] Acta Med Port
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Portugal
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44. AADELFA (Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales): [Evaluation of patients with Fabry disease in Argentina]. Medicina (B Aires); 2010;70(1):37-43
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  • [Title] [Evaluation of patients with Fabry disease in Argentina].
  • Fabry disease is an X- linked lysosomal disorder due to deficient activity of the enzyme alpha galactosidase A which leads to multisystemic storage of globotriaosylceramide with neurologic, gastrointestinal, cardiac, renal, skin and ophtalmological involvement.
  • Recent studies indicate that heterozygous females develop symptoms similar to the males, but comparative information regarding the relative frequency of clinical manifestations, age of onset and severity of the disorder between males and females with Fabry disease is not available in Argentina.
  • We identified 59 symptomatic adult patients with Fabry disease: 32 males (mean age 34.8 years) and 27 females (mean age 46.6 years).
  • We compared the frequency and severity of the clinical manifestations in females and males with this disease.
  • The most frequent manifestations were: acroparesthesias, angiokeratomas, hypohydrosis (all them were significantly more frequent in males than in females, as well as the severity of symptoms), and cornea verticillata.
  • Fabry disease is an underdiagnosed and potentially fatal disorder that affects both sexes.
  • [MeSH-major] Fabry Disease / diagnosis. alpha-Galactosidase / genetics
  • [MeSH-minor] Adult. Aged. Angiokeratoma / diagnosis. Angiokeratoma / etiology. Argentina. Corneal Opacity / diagnosis. Corneal Opacity / etiology. Female. Heterozygote. Humans. Hypertrophy, Left Ventricular / diagnosis. Hypertrophy, Left Ventricular / etiology. Male. Middle Aged. Mutation. Severity of Illness Index. Sex Factors. Young Adult

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  • (PMID = 20228022.001).
  • [ISSN] 0025-7680
  • [Journal-full-title] Medicina
  • [ISO-abbreviation] Medicina (B Aires)
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Argentina
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
  • [Investigator] Doxastakis G; Ferrari G; Ana María E; Kisinovsky I; Cáceres G; Bianchi S; Aguilar R; Aggio M; Tarabuso A; Peralta I; Reisin R; Nápoli G; Pardal A; Marchesoni C; Neumann P; Ebner R; Martínez P; Penna J; Rozenfeld P
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45. Kuzman T, Juri J, Mrsić M, Jeren-Strujić B, Mandić Z, Sikić J: [Ocular findings in Fabry's disease]. Acta Med Croatica; 2006;60(2):163-6
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  • [Title] [Ocular findings in Fabry's disease].
  • INTRODUCTION: Fabry's disease is a recessive X-linked disorder that results from a deficiency of the lysosomal hydrolase a-galactosidase A (alpha-Gal A).
  • Subsequently, angiokeratoma and ocular signs develop until, in most cases after the third decade of life, severe renal dysfunction or cardiomyopathy becomes obvious.
  • Recently, enzyme replacement therapy has been shown to be an effective treatment modality that can eliminate glycolipid stores and reverse the disease pathology.
  • During further evaluation nephrologist suspected Fabry's disease, because patient had skin changes early referred as petechiae, and acroparesthesias.
  • Physical status: angiokeratoma on gluteat regions and upper arms.
  • Heart ultrasound: low mitral regurgitation angio stage 1, left ventricle hypertrophy.
  • CONCLUSION: Fabry's disease occurs in all ethnic groups.
  • It is estimated that one in 200 people is a carrier, and one in 40,000-100,000 has the disease.
  • Today in Croatia, Fabry's disease has been diagnosed in only one patient, and according to the usual prevalence there are still 45-100 unrecognized patients.
  • The ophthalmologists are in excellent position to diagnose Fabry's disease in early stages.
  • Therefore it is very important that the ophthalmologists in Croatia become aware of the importance of ocular findings in Fabry's disease, so they can participate in the identification of unrecognized patients.
  • [MeSH-major] Eye Diseases / complications. Fabry Disease / complications

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  • (PMID = 16848212.001).
  • [ISSN] 1330-0164
  • [Journal-full-title] Acta medica Croatica : c̆asopis Hravatske akademije medicinskih znanosti
  • [ISO-abbreviation] Acta Med Croatica
  • [Language] hrv
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Croatia
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46. Garrido-Ríos AA, Sánchez-Velicia L, Marino-Harrison JM, Torrero-Antón MV, Miranda-Romero A: [A histopathologic and imaging study of verrucous hemangioma]. Actas Dermosifiliogr; 2008 Nov;99(9):723-6
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  • The terms verrucous hemangioma and angiokeratoma circumscriptum have been used interchangeably in the literature to define clinically similar lesions.
  • From a histologic perspective, however, angiokeratoma circumscriptum is limited to the papillary dermis whereas verrucous hemangioma extends as far as the hypodermis.
  • We describe the case of a 38-year-old woman who consulted for a lesion on the right thigh that was initially diagnosed as angiokeratoma; magnetic resonance imaging, however, led to a final diagnosis of verrucous hemangioma.

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  • [CommentIn] Actas Dermosifiliogr. 2009 Jun;100(5):437; author reply 438-9 [19558927.001]
  • (PMID = 19087812.001).
  • [ISSN] 0001-7310
  • [Journal-full-title] Actas dermo-sifiliográficas
  • [ISO-abbreviation] Actas Dermosifiliogr
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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47. Tsuboi K: Enzyme replacement therapy in patients with Fabry's disease. J Int Med Res; 2007 Jul-Aug;35(4):574-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Enzyme replacement therapy in patients with Fabry's disease.
  • Fabry's disease, a disorder affecting the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells.
  • Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys.
  • Eleven ambulatory patients with Fabry's disease were given replacement alpha-GAL A therapy.
  • Three patients died due to factors associated with Fabry's disease.
  • Although careful observation is necessary, these results suggest that replacement alpha-GAL A therapy may be a safe and effective treatment of Fabry's disease.
  • [MeSH-major] Fabry Disease. alpha-Galactosidase / therapeutic use

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  • (PMID = 17697536.001).
  • [ISSN] 0300-0605
  • [Journal-full-title] The Journal of international medical research
  • [ISO-abbreviation] J. Int. Med. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase
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48. Namazi MR, Maghsoodi M: Association of angiokeratoma of the vulva with angioma serpiginosum. J Drugs Dermatol; 2008 Sep;7(9):882-3
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  • [Title] Association of angiokeratoma of the vulva with angioma serpiginosum.
  • Angiokeratoma of the vulva is an uncommon lesion occurring in older women.
  • [MeSH-major] Angiokeratoma / pathology. Hemangioma / pathology. Vulvar Neoplasms / pathology

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  • (PMID = 19112804.001).
  • [ISSN] 1545-9616
  • [Journal-full-title] Journal of drugs in dermatology : JDD
  • [ISO-abbreviation] J Drugs Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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49. Kelly B, Kelly E: Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. Arch Dermatol; 2006 May;142(5):615-8
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  • [Title] Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities.
  • BACKGROUND: Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations.
  • OBSERVATIONS: We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency.
  • CONCLUSION: Angiokeratoma corporis diffusum without recognizable enzyme deficiencies appears to be a distinct clinical entity with a benign course.
  • [MeSH-major] Fabry Disease / diagnosis

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  • [CommentIn] Arch Dermatol. 2006 Nov;142(11):1509 [17116851.001]
  • (PMID = 16702499.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 28
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50. Bechara FG, Happle R, Altmeyer P, Grabbe S, Jansen T: Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism. J Dermatol; 2006 Jul;33(7):489-91
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  • [Title] Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism.
  • The clinical and histopathological findings were consistent with a diagnosis of angiokeratoma circumscriptum.
  • The systematized band-like arrangement observed in the present case strongly supports the concept that angiokeratoma circumscriptum reflects a mosaic state of a mutation that is so far unknown.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 16848823.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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51. Rozenfeld PA: Fabry disease: treatment and diagnosis. IUBMB Life; 2009 Nov;61(11):1043-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: treatment and diagnosis.
  • Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme alpha-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues.
  • Classical Fabry disease affects various organs.
  • Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever.
  • The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear.
  • Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease.
  • Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms.
  • An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.
  • [MeSH-major] Enzyme Replacement Therapy. Fabry Disease / diagnosis. Fabry Disease / therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 19859978.001).
  • [ISSN] 1521-6551
  • [Journal-full-title] IUBMB life
  • [ISO-abbreviation] IUBMB Life
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.22 / alpha-Galactosidase
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52. Al Dhaybi R, Powell J, McCuaig C, Kokta V: Differentiation of vascular tumors from vascular malformations by expression of Wilms tumor 1 gene: evaluation of 126 cases. J Am Acad Dermatol; 2010 Dec;63(6):1052-7
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  • METHODS: Based on the International Society for the Study of Vascular Anomalies classification of vascular anomalies, we studied the expression of WT1 in vascular tumors composed of infantile hemangioma, congenital hemangiomas (non-involuting, rapidly involuting, and not otherwise specified), pyogenic granuloma, tufted angioma, cherry angioma, Kaposi sarcoma, and angiosarcoma.
  • We also studied WT1 expression in vascular malformations composed of angiokeratoma/verrucous hemangioma, combined vascular malformations, venous malformations, glomuvenous malformations, lymphatic malformations/lymphangioma, telangiectasia, and targetoid hemosiderotic hemangioma.


53. Gayathri N, Yasha TC, Kanjalkar M, Agarwal S, Sagar BK, Santosh V, Shankar SK: Fabry's disease: An ultrastructural study of nerve biopsy. Ann Indian Acad Neurol; 2008 Jul;11(3):182-4
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  • [Title] Fabry's disease: An ultrastructural study of nerve biopsy.
  • Fabry's disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A (alpha-gal A), leads to progressive accumulation of glycosphingolipids.
  • We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.

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  • [Cites] J Inherit Metab Dis. 2007 Jun;30(3):365-9 [17458709.001]
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  • (PMID = 19893666.001).
  • [ISSN] 1998-3549
  • [Journal-full-title] Annals of Indian Academy of Neurology
  • [ISO-abbreviation] Ann Indian Acad Neurol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2771983
  • [Keywords] NOTNLM ; Angiokeratomas / Fabry's disease / lamellated inclusions
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54. Tøndel C, Bostad L, Hirth A, Svarstad E: Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis; 2008 May;51(5):767-76
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria.
  • BACKGROUND: Information concerning renal pathological characteristics in Fabry disease in childhood is limited.
  • Our objective is to define renal morphological abnormalities in children and adolescents with Fabry disease and minimal proteinuria.
  • RESULTS: All patients had acroparesthesia and typical eye changes, 7 showed hypohidrosis, 7 had gastrointestinal problems, and 2 had typical angiokeratomas.
  • The combination of acroparesthesia and mild albuminuria, glomerular endothelial cell deposits, and arteriopathy may constitute a clinical and morphological combination heralding a potentially progressive renal disease.
  • [MeSH-major] Albuminuria / etiology. Fabry Disease / pathology. Kidney / pathology
  • [MeSH-minor] Adolescent. Biopsy. Child. Disease Progression. Female. Glomerular Filtration Rate. Humans. Male

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  • [ErratumIn] Am J Kidney Dis. 2009 Mar;53(3):567
  • (PMID = 18436087.001).
  • [ISSN] 1523-6838
  • [Journal-full-title] American journal of kidney diseases : the official journal of the National Kidney Foundation
  • [ISO-abbreviation] Am. J. Kidney Dis.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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55. Uyama E: [Fabry disease in light of recent review]. Brain Nerve; 2008 Nov;60(11):1235-44
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Fabry disease in light of recent review].
  • Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding a-galactosidase A on Xq22.1.
  • Typically hemizygous male patients exhibit classic phenotypes such as angiokeratoma, acroparesthesias, episodic pain "crises," hypohidrosis, and whorl-shaped corneal opacities from childhood.
  • However, during adulthood, they gradually develop kidney failure, heart disease, and strokes resulting in early death between 40 to 50 years of age.
  • Patients having the cardiac variant of Fabry's disease exhibit only left ventricular hypertrophy, while patients having the renal variant exhibit only kidney failure.
  • Individuals affected by these variants show higher residual enzyme activity of alpha-galactosidase A than individuals affected by the classic form of Fabry's disease due to missense mutations of the GLA gene.
  • The cerebrovascular involvement in Fabry disease is not rare in both adult hemizygotes and heterozygotes.
  • [MeSH-major] Fabry Disease. Mutation, Missense. alpha-Galactosidase / genetics

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  • (PMID = 19069157.001).
  • [ISSN] 1881-6096
  • [Journal-full-title] Brain and nerve = Shinkei kenkyū no shinpo
  • [ISO-abbreviation] Brain Nerve
  • [Language] jpn
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 65
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56. Clarke JT: Narrative review: Fabry disease. Ann Intern Med; 2007 Mar 20;146(6):425-33
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Narrative review: Fabry disease.
  • Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of the neutral glycosphingolipid globotriaosylceramide (Gb3) in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes.
  • It is a complex, multisystem disorder that is characterized clinically by chronic pain and acroparesthesia, gastrointestinal disturbances, characteristic skin lesions (angiokeratomata), progressive renal impairment, cardiomyopathy, and stroke.
  • The effects of ERT on other tissues are not as obvious, suggesting that treatment must be initiated early in the course of the disease to be optimally effective or that some complications of the disease are not responsive to enzymes delivered intravenously.
  • [MeSH-major] Fabry Disease


57. Cochat P, Liutkus A, Dubourg L, Levade T: [Current management of Fabry disease]. Nephrol Ther; 2006 Jan;2 Suppl 2:S167-71
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Current management of Fabry disease].
  • Fabry disease is a rare X-linked lysosomal storage disease leading to systemic involvement, mainly through GL-3 endothelial deposition.
  • Initial symptoms may occur during childhood (acroparesthesia, angiokeratoma), prior to adulthood complications, i.e. renal, ocular, cerebral, neurological and cardiovascular involvement.
  • An early diagnosis of the disease may be challenging because of a frequent atypical clinical presentation.
  • [MeSH-major] Fabry Disease / therapy. Genetic Therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 17373218.001).
  • [ISSN] 1769-7255
  • [Journal-full-title] Néphrologie & thérapeutique
  • [ISO-abbreviation] Nephrol. Ther.
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Enzyme Inhibitors; 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase; EC 3.2.1.45 / Glucosylceramidase
  • [Number-of-references] 30
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58. Vibert D, Blaser B, Ozdoba C, Häusler R: Fabry's disease: otoneurologic findings in twelve members of one family. Ann Otol Rhinol Laryngol; 2006 Jun;115(6):412-8
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  • [Title] Fabry's disease: otoneurologic findings in twelve members of one family.
  • Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene.
  • They appear during childhood or adolescence: acroparesthesia, joint pain, angiokeratoma, corneal dystrophy, hypohydrosis or anhydrosis, and renal failure.
  • [MeSH-major] Fabry Disease / genetics. Family. Hearing Loss / complications. Meniere Disease / complications. Tinnitus / complications. Vertigo / complications
  • [MeSH-minor] Adult. Aged. Electronystagmography. Female. Genetic Predisposition to Disease. Genotype. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Nystagmus, Pathologic / complications. Nystagmus, Pathologic / genetics. Nystagmus, Pathologic / physiopathology. Pedigree


59. Ulker V, Cakir E, Gedikbasi A, Akyol A, Numanoglu C, Gulkilik A: Angiokeratoma of the clitoris with evident vulvar varicosity. J Obstet Gynaecol Res; 2010 Dec;36(6):1249-51
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  • [Title] Angiokeratoma of the clitoris with evident vulvar varicosity.
  • Angiokeratomas of the vulva are uncommon, benign vascular lesions that are generally located on the labia.
  • We report a case of clitoral angiokeratoma in a 22-year-old nulligravida with a history of surgery to remove a clitoral mass at 6 years of age.
  • [MeSH-major] Angiokeratoma / pathology. Clitoris / pathology. Skin Neoplasms / pathology

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  • [Copyright] © 2010 The Authors. Journal of Obstetrics and Gynaecology Research © 2010 Japan Society of Obstetrics and Gynecology.
  • (PMID = 21040198.001).
  • [ISSN] 1447-0756
  • [Journal-full-title] The journal of obstetrics and gynaecology research
  • [ISO-abbreviation] J. Obstet. Gynaecol. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
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60. Dobrovolskiene R, Utkus A, Tumiene B, Rainiene T, Czartoryska B: [Fabry's disease: a clinical case and literature review]. Medicina (Kaunas); 2007;43 Suppl 1:139-44
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Fabry's disease: a clinical case and literature review].
  • Fabry's disease is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, hypohidrosis, heart and kidney lesions, and other symptoms, which are described below.
  • From 2001, this disease is one of inborn errors of metabolism in which enzyme replacement therapy is applied very effectively.
  • Two atypical forms of the disease were discovered, and the first surveys were done revealing that the incidence of Fabry's disease can be much more higher than it was considered before.
  • A clinical case of Fabry's disease is described, and actual issues of diagnostics and treatment of Fabry's disease are discussed.
  • In spite of very typical symptoms, delayed diagnosis was made: after the first investigation of alpha-galactosidase A activity in dry blood sample, diagnosis of Fabry's disease was rejected; only after lysosomal enzyme activity assay in heparinized blood leukocytes, this diagnosis was confirmed.
  • [MeSH-major] Fabry Disease. Kidney Failure, Chronic / diagnosis
  • [MeSH-minor] Angiokeratoma / diagnosis. Clinical Enzyme Tests. Humans. Lysosomes / enzymology. Phenotype. Skin Neoplasms / diagnosis. Thorax. Time Factors

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  • (PMID = 17551292.001).
  • [ISSN] 1648-9144
  • [Journal-full-title] Medicina (Kaunas, Lithuania)
  • [ISO-abbreviation] Medicina (Kaunas)
  • [Language] lit
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Lithuania
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61. Kim Y, Dawes-Higgs E, Mann S, Cook DK: Acral pseudolymphomatous angiokeratoma of children (APACHE). Australas J Dermatol; 2005 Aug;46(3):177-80
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  • [Title] Acral pseudolymphomatous angiokeratoma of children (APACHE).
  • The histopathology examination revealed a massive subepidermal lymphohistiocytic infiltrate, consistent with acral pseudolymphomatous angiokeratoma of children.
  • The authors prefer the term 'papular angiolymphoid hyperplasia' for this entity, based on the absence of histological angiokeratomatous features, the benign nature of the lesion and the previously reported cases from adults and non-acral sites.
  • [MeSH-major] Angiokeratoma / diagnosis. Pseudolymphoma / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16008651.001).
  • [ISSN] 0004-8380
  • [Journal-full-title] The Australasian journal of dermatology
  • [ISO-abbreviation] Australas. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / Anti-Inflammatory Agents; 0 / Pregnadienediols; 04201GDN4R / Mometasone Furoate
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62. Kobayashi M, Ohashi T, Sakuma M, Ida H, Eto Y: Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. J Inherit Metab Dis; 2008 Dec;31 Suppl 3:483-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.
  • Fabry disease is an X linked lysosomal storage disorder resulting from deficiency of α-galactosidase A activity.
  • Although disease manifestations in heterozygous females with Fabry disease have been considered to be rare and mild, heterozygous patients with severe symptoms have recently been reported.
  • In this study we focused on the clinical characteristics of Japanese females patients with Fabry disease and analysed data from 36 women.
  • Data on clinical manifestations such as acroparaesthesia, hypohidrosis, angiokeratoma, corneal opacities, proteinuria, end-stage renal disease (ESRD), left ventricular hypertrophy (LVH) and cerebral infarction were obtained by questionnaire; these analysed by the Kaplan-Meier method and compared with the data from Japanese male patients.
  • Eighty-six per cent of female patients had at least one clinical sign of Fabry disease.
  • The cumulative incidences of angiokeratoma, corneal opacities, proteinuria, ESRD, LVH and cerebral infarction were significantly lower in female than in male patients.
  • We consider that the term X-linked 'recessive' is inappropriate for Fabry disease because of the high prevalence of its pathognomonic signs in heterozygous female patients.
  • Careful and long-term evaluation of clinical signs is important in heterozygous females patients with Fabry disease.

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  • [Cites] J Inherit Metab Dis. 2003;26(7):617-27 [14707510.001]
  • [Cites] Eur J Clin Invest. 2004 Mar;34(3):236-42 [15025684.001]
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  • (PMID = 18202903.001).
  • [ISSN] 0141-8955
  • [Journal-full-title] Journal of inherited metabolic disease
  • [ISO-abbreviation] J. Inherit. Metab. Dis.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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63. Teichman JM, Sea J, Thompson IM, Elston DM: Noninfectious penile lesions. Am Fam Physician; 2010 Jan 15;81(2):167-74
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  • Noninfectious lesions may be classified as inflammatory and papulosquamous (e.g., psoriasis, lichen sclerosus, angiokeratomas, lichen nitidus, lichen planus), or as neoplastic (e.g., carcinoma in situ, invasive squamous cell carcinoma).
  • Angiokeratomas are typically asymptomatic, well-circumscribed, red or blue papules, whereas lichen nitidus usually produces asymptomatic pinhead-sized, hypopigmented papules.

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  • (PMID = 20082512.001).
  • [ISSN] 1532-0650
  • [Journal-full-title] American family physician
  • [ISO-abbreviation] Am Fam Physician
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 49
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64. Aidagulova SV, Zhornik TM, Nepomnyashchikh DL, Marinkin IO, Vinogradova EV, Nokhrina ZhV: Ultrastructural modification of the endothelium in placental insufficiency and microangiopathies. Bull Exp Biol Med; 2009 May;147(5):650-4
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  • Structural reorganization of endotheliocytes was studied on models of various pathological processes: placental dysfunction, glomerular pathology, vibration syndrome, antiphospholipid syndrome, and diffuse angiokeratoma, all of these characterized by endothelial insufficiency.
  • [MeSH-minor] Adolescent. Adult. Antiphospholipid Syndrome / pathology. Fabry Disease / pathology. Female. Humans. Kidney Glomerulus / pathology. Kidney Glomerulus / ultrastructure. Male. Microscopy, Electron, Transmission. Middle Aged. Pregnancy. Skin / pathology. Skin / ultrastructure. Stomach / pathology. Stomach / ultrastructure. Young Adult

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  • (PMID = 19907761.001).
  • [ISSN] 1573-8221
  • [Journal-full-title] Bulletin of experimental biology and medicine
  • [ISO-abbreviation] Bull. Exp. Biol. Med.
  • [Language] eng; rus
  • [Publication-type] Journal Article
  • [Publication-country] United States
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65. Bathelier E, Gunera-Saad N, Bérard F, Nicolas JF: Angiokeratoma induced by injection of etanercept for psoriasis. J Am Acad Dermatol; 2008 Nov;59(5 Suppl):S124-5
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  • [Title] Angiokeratoma induced by injection of etanercept for psoriasis.
  • [MeSH-major] Angiokeratoma / chemically induced. Immunoglobulin G / adverse effects. Psoriasis / drug therapy

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  • (PMID = 19119125.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Immunoglobulin G; 0 / Receptors, Tumor Necrosis Factor; OP401G7OJC / Etanercept
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66. Varshney S: Angiokeratoma circumscriptum of the tongue. Int J Dermatol; 2005 Oct;44(10):886-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum of the tongue.
  • [MeSH-major] Angiokeratoma / diagnosis. Tongue Neoplasms / diagnosis

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  • [CommentIn] Int J Dermatol. 2009 Jul;48(7):778-81 [19570090.001]
  • (PMID = 16207201.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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67. Ghosh SK, Bandyopadhyay D: Acute scrotal bleeding. J Emerg Trauma Shock; 2010 Oct;3(4):416-7
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  • We report a case of acute scrotal hemorrhage from multiple angiokeratomas on scrotum, because of the rarity of the condition and to emphasize the importance of considering this condition in the evaluation of acute scrotal bleeding.

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  • (PMID = 21063571.001).
  • [ISSN] 0974-519X
  • [Journal-full-title] Journal of emergencies, trauma, and shock
  • [ISO-abbreviation] J Emerg Trauma Shock
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2966581
  • [Keywords] NOTNLM ; Angiokeratoma of fordyce / angiokeratoma of scrotum / scrotal bleeding
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68. del Pozo J, Fonseca E: Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. Dermatol Surg; 2005 Feb;31(2):232-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization.
  • BACKGROUND: Angiokeratoma circumscriptum naeviforme (ACN) is an unusual type of localized angiokeratoma that occurs more frequently in females and is usually located on the buttocks or thighs, showing a unilateral distribution.
  • Carbon-dioxide laser is a known alternative for treating angiokeratomas.
  • [MeSH-major] Angiokeratoma / diagnosis. Angiokeratoma / surgery. Skin Neoplasms / diagnosis. Skin Neoplasms / surgery

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  • (PMID = 15762221.001).
  • [ISSN] 1076-0512
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 142M471B3J / Carbon Dioxide
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69. Rodrigues LG, Ferraz MJ, Rodrigues D, Pais-Vieira M, Lima D, Brady RO, Sousa MM, Sá-Miranda MC: Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice. Neurobiol Dis; 2009 Jan;33(1):48-56
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the alpha-galactosidase gene (GLA).
  • Clinically the disorder presents with angiokeratomas, clouding of the cornea, and renal, cardiac, and cerebrovascular complications.
  • Similar to the described in Fabry disease patients, the sensorimotor assessment of Fabry mice revealed diminished locomotor activity and warm hypoalgesia as assessed in the hot-plate.
  • By histological analysis, the cyto-architecture of Fabry mice sciatic nerves showed an increase in mean cross-sectional area accompanied by a decrease in the density of non-myelinated fibers as well as a trend for a decreased number of small myelinated fibers, a well established feature of Fabry disease.
  • [MeSH-major] Fabry Disease. Peripheral Nervous System / pathology. Peripheral Nervous System / physiopathology. alpha-Galactosidase / genetics
  • [MeSH-minor] Animals. Ataxia / physiopathology. Disease Models, Animal. Female. Glycosphingolipids / metabolism. Hot Temperature. Hypesthesia / physiopathology. Male. Mice. Mice, Knockout. Motor Activity. Nerve Fibers / pathology. Nerve Fibers / physiology. Nerve Fibers / ultrastructure. Neural Conduction / physiology. Pain / physiopathology. Phenotype. Postural Balance. Sciatic Nerve / pathology. Sciatic Nerve / physiopathology. Sciatic Nerve / ultrastructure. Thermosensing. Trihexosylceramides / metabolism

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  • (PMID = 18848893.001).
  • [ISSN] 1095-953X
  • [Journal-full-title] Neurobiology of disease
  • [ISO-abbreviation] Neurobiol. Dis.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Glycosphingolipids; 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.22 / alpha-Galactosidase
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70. Trickett R, Dowd H: Angiokeratoma of the scrotum: a case of scrotal bleeding. Emerg Med J; 2006 Oct;23(10):e57
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  • [Title] Angiokeratoma of the scrotum: a case of scrotal bleeding.
  • A diagnosis of angiokeratoma of the scrotum (Fordyce) was made and potential precipitants such as intra-abdominal masses, urinary tract tumours, varicoceles, hernias and angiokeratoma corporis diffusum (Fabry syndrome) were excluded.
  • The important differential diagnoses are angiokeratoma corporis diffusum and malignant melanoma (nodular type).
  • In females, Fordyce angiokeratoma are distributed on labia majora.
  • [MeSH-major] Angiokeratoma / diagnosis. Hemorrhage / etiology. Scrotum. Skin Neoplasms / diagnosis

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  • [Cites] Mil Med. 1994 Jul;159(7):523-4 [7816227.001]
  • [Cites] Arch Dermatol. 2005 Oct;141(10):1325-6 [16230581.001]
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  • (PMID = 16988295.001).
  • [ISSN] 1472-0213
  • [Journal-full-title] Emergency medicine journal : EMJ
  • [ISO-abbreviation] Emerg Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2579622
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71. Ranjan N, Mahajan VK: Oral angiokeratomas: proposed clinical classification. Int J Dermatol; 2009 Jul;48(7):778-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Oral angiokeratomas: proposed clinical classification.
  • [MeSH-major] Angiokeratoma / classification. Mouth Neoplasms / classification. Tongue Neoplasms / classification

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  • [CommentOn] Int J Dermatol. 2005 Oct;44(10):886-8 [16207201.001]
  • (PMID = 19570090.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 20
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72. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M, FOS European Investigators: Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr; 2006 Jan;95(1):86-92
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.
  • BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A.
  • AIM: Here, we present the clinical manifestations of Fabry disease in children enrolled in FOS--the Fabry Outcome Survey--a European database of the natural history of Fabry disease and the effects of enzyme replacement therapy with agalsidase alfa (Replagal).
  • RESULTS: The most frequent early clinical manifestations of Fabry disease were neurological (acroparaesthesiae, altered temperature sensitivity) and gastrointestinal symptoms (altered bowel habits and abdominal pain), which were documented in about 80% and 60% of patients, respectively, at the time of evaluation and subsequent entry into FOS.
  • Tinnitus, vertigo, fatigue and angiokeratoma were present in over 40% of patients.
  • CONCLUSION: Although the life-threatening complications of Fabry disease, such as stroke and renal and heart failure, are not seen in children, the present analysis shows that other symptoms are common and may have an impact on quality of life.
  • [MeSH-major] Fabry Disease / physiopathology

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  • (PMID = 16498740.001).
  • [ISSN] 0803-5253
  • [Journal-full-title] Acta paediatrica (Oslo, Norway : 1992)
  • [ISO-abbreviation] Acta Paediatr.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Norway
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.22 / alpha-Galactosidase
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73. Ghorpade A: Naevoid blaschkoid red-blue lesions in an Indian boy. Angiokeratoma corporis naeviforme along the lines of Blaschko. Clin Exp Dermatol; 2010 Apr;35(3):e79-80
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  • [Title] Naevoid blaschkoid red-blue lesions in an Indian boy. Angiokeratoma corporis naeviforme along the lines of Blaschko.
  • [MeSH-major] Angiokeratoma / pathology. Leg. Nevus, Blue / pathology. Skin Neoplasms / pathology

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  • (PMID = 20500192.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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74. Morais P, Santos AL, Baudrier T, Mota AV, Oliveira JP, Azevedo F: Angiokeratomas of Fabry successfully treated with intense pulsed light. J Cosmet Laser Ther; 2008 Dec;10(4):218-22
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratomas of Fabry successfully treated with intense pulsed light.
  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A.
  • Angiokeratomas (AKs) are a frequent manifestation of this disease.
  • [MeSH-major] Angiokeratoma / therapy. Fabry Disease / pathology. Phototherapy / methods. Skin Neoplasms / therapy

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  • (PMID = 18830871.001).
  • [ISSN] 1476-4180
  • [Journal-full-title] Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
  • [ISO-abbreviation] J Cosmet Laser Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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75. Cakmak SK, Gönül M, Gül U, Gündüz H, Demiriz M, Ustüner E: Unilateral angiokeratoma of the breast. Eur J Dermatol; 2009 Jan-Feb;19(1):75-6
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  • [Title] Unilateral angiokeratoma of the breast.
  • [MeSH-major] Angiokeratoma / diagnosis. Breast. Skin Neoplasms / diagnosis

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  • (PMID = 19171535.001).
  • [ISSN] 1167-1122
  • [Journal-full-title] European journal of dermatology : EJD
  • [ISO-abbreviation] Eur J Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] France
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76. Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HP: Verrucous hemangioma revisited. Pediatr Dermatol; 2006 May-Jun;23(3):208-15
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  • We analyzed the clinical and histopathologic characteristics of verrucous hemangioma, compared these findings to hyperkeratotic mimickers such as capillary-lymphatic malformation or capillary-venous malformation and angiokeratoma circumscriptum, and reconsidered whether the term verrucous hemangioma is appropriate in the current nosology of vascular anomalies.
  • Fourteen similar-appearing localized hyperkeratotic vascular lesions were identified by one surgeon as either angiokeratoma, angiokeratoma circumscriptum, capillary-venous malformation, capillary-lymphatic malformation, or verrucous hemangioma.
  • After histologic review, three lesions were designated as combined vascular malformations composed of capillaries, lymphatics, and veins, and none was designated as angiokeratoma.
  • [MeSH-minor] Adolescent. Angiokeratoma / pathology. Child. Child, Preschool. Diagnosis, Differential. Glucose Transporter Type 1 / metabolism. Humans. Infant. Infant, Newborn. Keratosis / pathology. Port-Wine Stain / pathology. Retrospective Studies


77. Choudhury S, Meehan S, Shin HT: Fabry disease: an atypical presentation. Pediatr Dermatol; 2005 Jul-Aug;22(4):334-7
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  • [Title] Fabry disease: an atypical presentation.
  • Fabry disease is a rare X-linked recessive lysosomal storage disease.
  • Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities.
  • Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease.
  • [MeSH-major] Angiokeratoma / etiology. Fabry Disease / diagnosis. Skin Neoplasms / etiology


78. Happle R: What is a capillary malformation? J Am Acad Dermatol; 2008 Dec;59(6):1077-9
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  • Examples include nevus anemicus, cutis marmorata telangiectatica congenita, angiokeratoma circumscriptum, and several vascular lesions that, in the author's view, do not represent nevi, such as the nuchal or glabellar salmon patch and the cutaneous changes of Rendu-Osler disease.

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  • (PMID = 19022106.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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79. Gansz B, Ständer S, Metze D: [Acral pseudolymphomatous angiokeratoma of children (APACHE)]. Hautarzt; 2005 Mar;56(3):270-2
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  • [Title] [Acral pseudolymphomatous angiokeratoma of children (APACHE)].
  • Acral pseudolymphomatous angiokeratoma of children (APACHE) is a pseudolymphoma of posttraumatic origin which was first described in 1988.
  • [MeSH-major] Angiokeratoma / pathology. Angiokeratoma / therapy. Foot Injuries / pathology. Pseudolymphoma / pathology. Pseudolymphoma / therapy. Skin Neoplasms / pathology. Skin Neoplasms / therapy

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  • [Cites] Arch Dermatol. 1990 Nov;126(11):1524-5 [2241217.001]
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  • (PMID = 15580454.001).
  • [ISSN] 0017-8470
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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80. Yildirim M, Kilinç N, Oktay MF, Topçu I: A case of solitary angiokeratoma circumscriptum of the tongue. Kulak Burun Bogaz Ihtis Derg; 2007;17(6):333-5
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  • [Title] A case of solitary angiokeratoma circumscriptum of the tongue.
  • Angiokeratoma circumscriptum is an uncommon vascular entity.
  • After an incisional biopsy of the lesion, the diagnosis was made as solitary angiokeratoma circumscriptum.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis. Tongue / pathology

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  • (PMID = 18187999.001).
  • [ISSN] 1300-7475
  • [Journal-full-title] Kulak burun boğaz ihtisas dergisi : KBB = Journal of ear, nose, and throat
  • [ISO-abbreviation] Kulak Burun Bogaz Ihtis Derg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Turkey
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81. Ro LS, Chen CM, Chang HS, Lyu RK, Wu YR, Hsu WC, Lee-Chen GJ: Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion. Eur J Neurol; 2007 May;14(5):493-7
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  • [Title] Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.
  • Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers.
  • We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family.
  • Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients.
  • We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.
  • [MeSH-major] Fabry Disease / enzymology. Fabry Disease / genetics. Gene Deletion. Mutation / genetics. alpha-Galactosidase / genetics

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  • (PMID = 17437606.001).
  • [ISSN] 1468-1331
  • [Journal-full-title] European journal of neurology
  • [ISO-abbreviation] Eur. J. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Genetic Markers; EC 3.2.1.22 / alpha-Galactosidase
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82. Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T: Beta-mannosidosis: a new cause of spinocerebellar ataxia. Clin Neurol Neurosurg; 2009 Jan;111(1):109-10
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  • This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.


83. Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF: Phenotypic spectrum of fucosidosis in Tunisia. J Inherit Metab Dis; 2008 Dec;31 Suppl 2:S313-6
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  • This distinction was determined by the presence or absence of angiokeratoma and age of death.
  • Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).
  • [MeSH-minor] Angiokeratoma / epidemiology. Cause of Death. Child Development. Child, Preschool. Developmental Disabilities / epidemiology. Female. Health Surveys. Humans. Infant. Male. Nervous System Diseases / epidemiology. Phenotype. Prognosis. Severity of Illness Index. Skin Neoplasms / epidemiology. Time Factors. Tunisia / epidemiology

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  • [Cites] Bone Marrow Transplant. 2001 Apr;27(7):747-51 [11360116.001]
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  • (PMID = 18651239.001).
  • [ISSN] 1573-2665
  • [Journal-full-title] Journal of inherited metabolic disease
  • [ISO-abbreviation] J. Inherit. Metab. Dis.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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84. Fernández-Aceñero MJ, Rey Biel J, Renedo G: Solitary angiokeratoma of the tongue in adults. Rom J Morphol Embryol; 2010;51(4):771-3
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  • [Title] Solitary angiokeratoma of the tongue in adults.
  • Angiokeratomas are vascular malformations that usually appear as multiple or solitary cutaneous plaques.
  • Mucosal involvement, including the oral cavity, is occasionally found either as a component of the systemic variety, called angiokeratoma corporis diffusum, or associated with cutaneous lesions in more locations.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 21103640.001).
  • [ISSN] 1220-0522
  • [Journal-full-title] Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • [ISO-abbreviation] Rom J Morphol Embryol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Romania
  • [Chemical-registry-number] 0 / Antigens, CD31; 0 / Antigens, CD34; 0 / LYVE1 protein, human; 0 / Vesicular Transport Proteins
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85. Buljan M, Poduje S, Situm M, Bulat V, Bolanča Z, Tomas D: Multiple angiokeratomas of the vulva: case report and literature review. Acta Dermatovenerol Croat; 2010;18(4):271-5
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  • [Title] Multiple angiokeratomas of the vulva: case report and literature review.
  • Angiokeratomas of the vulva are relatively rare finding and a limited number of cases have been reported in the literature.
  • Clinically, angiokeratomas of the vulva are benign vascular lesions usually occurring in middle-aged or older women.
  • Histopathologic analysis of the lesion confirmed the diagnosis of angiokeratoma, and all lesions were electrocauterized under local anesthesia.
  • Therefore, dermatovenereologists should be aware of angiokeratomas and respective therapeutic options when examining a patient with pruritic, painful, or bleeding lesions in the genital region.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis. Vulvar Neoplasms / diagnosis

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  • (PMID = 21251446.001).
  • [ISSN] 1847-6538
  • [Journal-full-title] Acta dermatovenerologica Croatica : ADC
  • [ISO-abbreviation] Acta Dermatovenerol Croat
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Croatia
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86. Baruah J, Roy KK, Rahman SM, Kumar S, Pushparaj M, Mirdha AR: Angiokeratoma of vulva with coexisting human papilloma virus infection: a case report. Arch Gynecol Obstet; 2008 Aug;278(2):165-7
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  • [Title] Angiokeratoma of vulva with coexisting human papilloma virus infection: a case report.
  • A wide local excision was performed and histopathological report confirmed a case of angiokeratoma.
  • To the best of our knowledge this is the first case of angiokeratoma of vulva following chronic HPV infection.
  • [MeSH-major] Angiokeratoma / virology. Human papillomavirus 6 / isolation & purification. Papillomavirus Infections / complications. Skin Neoplasms / virology. Vulva

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  • (PMID = 18193251.001).
  • [ISSN] 0932-0067
  • [Journal-full-title] Archives of gynecology and obstetrics
  • [ISO-abbreviation] Arch. Gynecol. Obstet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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87. Lapidoth M, Ad-El D, David M, Azaria R: Treatment of angiokeratoma of Fordyce with pulsed dye laser. Dermatol Surg; 2006 Sep;32(9):1147-50
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  • [Title] Treatment of angiokeratoma of Fordyce with pulsed dye laser.
  • BACKGROUND: Angiokeratomas of Fordyce are typically asymptomatic vascular lesions characterized by blue-to-red papules with a scale surface, most often located on the scrotum.
  • OBJECTIVE: The objective was to determine the safety and effectiveness of 585-nm pulsed dye laser for the treatment of angiokeratomas of Fordyce.
  • METHODS: Twelve patients with Fitzpatrick skin type II to IV were treated for angiokeratomas of Fordyce with pulsed dye laser (5.5-8.0 J/cm(2)) in two to six sessions.
  • CONCLUSION: Pulsed dye laser is effective and safe for the treatment of angiokeratoma of Fordyce, with minimum side effects, providing an additional nonablative therapeutic option.
  • [MeSH-major] Angiokeratoma / radiotherapy. Genital Neoplasms, Male / radiotherapy. Low-Level Light Therapy / methods. Skin Neoplasms / radiotherapy

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  • (PMID = 16970695.001).
  • [ISSN] 1076-0512
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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88. Pavone P, Lucenti C, Fraggetta F, Micali G, Incorpora G, Ruggieri M: Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. J Clin Gastroenterol; 2008 Jul;42(6):715-9
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  • [Title] Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.
  • We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type).
  • [MeSH-major] Angiokeratoma / complications. Hearing Loss, Sensorineural / complications. Lymphangiectasis / complications. Lymphedema / complications


89. He JQ, Han ZH, Ren XJ, Gao YC, Zhang XL, Jiang TY: [The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy]. Zhonghua Xin Xue Guan Bing Za Zhi; 2009 Apr;37(4):320-3
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  • One male patient with clinicopathological features of early onset, muscle weakness, ventricular preexcitation, elevations of two serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachial muscle cells was diagnosed Danon's disease.
  • Three patients were diagnosed as Fabry's disease with clinical characteristics including pain and acroparesthesias, angiokeratoma and decrease of alpha-galactosidase A activity.

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  • (PMID = 19791467.001).
  • [ISSN] 0253-3758
  • [Journal-full-title] Zhonghua xin xue guan bing za zhi
  • [ISO-abbreviation] Zhonghua Xin Xue Guan Bing Za Zhi
  • [Language] chi
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
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90. Mayer V, Maetzke J, Scharffetter-Kochanek K: [Punctate maculae on the back of the hands of a 44-year-old woman]. Hautarzt; 2009 May;60(5):428-32
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  • Our differential diagnosis includes idiopathic teleangiectases, teleangiectasia eruptiva perstans, angioma serpiginosum and angiokeratoma corporis diffusum Fabry.
  • [MeSH-major] Angiokeratoma / complications. Angiokeratoma / diagnosis. Hand / pathology. Keratosis / diagnosis. Keratosis / etiology. Macula Lutea / pathology. Skin Neoplasms / complications. Skin Neoplasms / diagnosis

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  • (PMID = 19225742.001).
  • [ISSN] 1432-1173
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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91. Kanitakis J, Ly A, Claudy A: Eccrine angiokeratomatous hamartoma: a new variant of eccrine hamartoma with angiokeratoma. J Am Acad Dermatol; 2006 Nov;55(5 Suppl):S104-6
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  • [Title] Eccrine angiokeratomatous hamartoma: a new variant of eccrine hamartoma with angiokeratoma.

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  • (PMID = 17052519.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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92. Tudor A, Muşat A, Doscan A, Bari M, Zapucioiu C, Urdea E, Cochior D, Peţa D: Clinical spectrum of Anderson Fabry disease in a Romanian family. Rom J Intern Med; 2006;44(2):201-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical spectrum of Anderson Fabry disease in a Romanian family.
  • Anderson Fabry disease (alpha galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder; alpha galactosidase A deficiency results in accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promoting development of disease with renal, cardiovascular, and cerebrovascular involvement.
  • Clinical aspects which usually begin in childhood or adolescence include intermittent pain in the extremities (acroparesthesias), episodic "Fabry crisis" of acute pain lasting hours to days, characteristic skin lesions (angiokeratomas), hypohidrosis, heat and cold intolerance.
  • Classic phenotype conception of the disease has changed within the past decade, recognizing that disease is not limited to the classical full-blown manifestation in affected males, but may also occur in carrier females.
  • The expanding clinical spectrum of Anderson Fabry disease (AFD) is a real challenge to diagnosis, especially in some patients whose exclusive single organ manifestation belongs to the heart or kidney.
  • His 26 years-old sister has angiokeratomas as the only sign of disease (case B).
  • Case C: the uncle of these two cases (A, B) has a long history of disease including chronic renal failure, bilateral deafness, stroke, aseptic osteonecrosis.
  • The purpose of the presentation is to sharpen physicians' perception of this disease.
  • Early and accurate diagnosis is mandatory considering that this disorder is now, after introduction of the novel enzyme replacement therapy, a treatable disease.
  • [MeSH-major] Fabry Disease

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  • (PMID = 17236300.001).
  • [ISSN] 1220-4749
  • [Journal-full-title] Romanian journal of internal medicine = Revue roumaine de médecine interne
  • [ISO-abbreviation] Rom J Intern Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Romania
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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93. Yap FB, Pubalan M: Angiokeratoma corporis diffusum. Med J Malaysia; 2008 Oct;63(4):329-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma corporis diffusum.
  • Angiokeratoma is a dark violaceous keratotic papule which can be solitary or multiple.
  • Generalised systemic angiokeratoma constitute angiokeratoma corporis diffusum, a rare X-linked recessive inborn error of glycosphingolipid metabolism due to deficiency of alpha galactosidase A.
  • Patients with this disease have premature death due to the vascular complications.
  • A case of possible Fabry's disease is presented.
  • [MeSH-major] Fabry Disease / pathology

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  • (PMID = 19385495.001).
  • [ISSN] 0300-5283
  • [Journal-full-title] The Medical journal of Malaysia
  • [ISO-abbreviation] Med. J. Malaysia
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
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94. Bello-Quintero CE, Gonzalez ME, Alvarez-Connelly E: Halo nevi in Turner syndrome. Pediatr Dermatol; 2010 Jul-Aug;27(4):368-9
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  • Rarely reported cutaneous manifestations in Turner syndrome include hemangiomas, angiokeratomas, hirsutism, and halo nevi.


95. Ergun S, Mete O, Yeşil S, Tanyeri H: Solitary angiokeratoma of the tongue treated with diode laser. Lasers Med Sci; 2009 Jan;24(1):123-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Solitary angiokeratoma of the tongue treated with diode laser.
  • Angiokeratoma is a muco-cutaneous disorder that is usually associated with a number of metabolic disorders.
  • Involvement of the tongue with solitary angiokeratoma, without a systemic or metabolic disease, is very rare.
  • To the best of our knowledge, we report the second case of solitary angiokeratoma of the tongue arising in a 16-year-old woman who was treated with diode laser (810 nm) in our department.
  • [MeSH-major] Angiokeratoma / surgery. Lasers, Semiconductor / therapeutic use. Tongue Neoplasms / surgery

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  • [ErratumIn] Lasers Med Sci. 2009 Jan;24(1):127
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  • (PMID = 18057978.001).
  • [ISSN] 0268-8921
  • [Journal-full-title] Lasers in medical science
  • [ISO-abbreviation] Lasers Med Sci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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96. Campbell T, Dimitropoulos VA, Brown C Jr: Successful treatment of eruptive unilateral angiokeratomas. Arch Dermatol; 2008 Dec;144(12):1663-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Successful treatment of eruptive unilateral angiokeratomas.
  • [MeSH-major] Angiokeratoma / surgery. Electrocoagulation. Laser Therapy

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  • (PMID = 19075162.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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97. Gao J, Li C, Liu L, Gao T: Nevus lipomatosus cutaneous superficialis with angiokeratoma. Int J Dermatol; 2007 Jun;46(6):611-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevus lipomatosus cutaneous superficialis with angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 17550561.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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98. Oni G, Mahaffey P: Treatment of angiokeratoma of the vulva with pulsed dye laser therapy. J Cosmet Laser Ther; 2010 Feb;12(1):51-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of angiokeratoma of the vulva with pulsed dye laser therapy.
  • Angiokeratoma of the vulva is relatively rare with few cases reported in the literature.
  • [MeSH-major] Angiokeratoma / radiotherapy. Lasers, Dye. Low-Level Light Therapy / methods. Skin Neoplasms / radiotherapy. Vulva

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  • (PMID = 19929291.001).
  • [ISSN] 1476-4180
  • [Journal-full-title] Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
  • [ISO-abbreviation] J Cosmet Laser Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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99. Lee MW, Lee DK, Choi JH, Moon KC, Koh JK: Clinicopathologic study of cutaneous pseudolymphomas. J Dermatol; 2005 Jul;32(7):594-601
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The histologic patterns were diverse, MF-like, perivascular/periadnexal, nodular, diffuse, pseudolymphomatous folliculitis, and acral pseudolymphomatous angiokeratoma of children (APACHE) patterns.

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  • (PMID = 16335878.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Japan
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100. Möhrenschlager M, Pontz BF, Lanzl I, Podskarbi T, Henkel V, Ring J: Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. J Dtsch Dermatol Ges; 2007 Jul;5(7):594-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options.
  • A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels.
  • His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood.
  • Possible future options in treatment of Fabry disease are discussed.
  • [MeSH-major] Fabry Disease / drug therapy. Fabry Disease / pathology. alpha-Galactosidase / therapeutic use

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  • (PMID = 17610610.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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