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1. Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Gozzini A, Luzi E, Brandi ML: Multiple endocrine neoplasia type 1. Orphanet J Rare Dis; 2006;1:38
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  • [Title] Multiple endocrine neoplasia type 1.
  • Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution.
  • The sporadic form presents with two of the three principal MEN1-related endocrine tumours (parathyroid adenomas, entero-pancreatic tumours and pituitary tumours) within a single patient, while the familial form consists of a MEN1 case with at least one first degree relative showing one of the endocrine characterising tumours.
  • Other endocrine and non-endocrine lesions, such as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract and thymus, lipomas, angiofibromas, collagenomas have been described.
  • Treatment consists of surgery and/or drug therapy, often in association with radiotherapy or chemotherapy.
  • [MeSH-major] Multiple Endocrine Neoplasia Type 1 / diagnosis. Multiple Endocrine Neoplasia Type 1 / therapy. Pancreatic Neoplasms / diagnosis. Pancreatic Neoplasms / therapy. Parathyroid Neoplasms / diagnosis. Parathyroid Neoplasms / therapy. Pituitary Neoplasms / diagnosis. Pituitary Neoplasms / therapy
  • [MeSH-minor] Adolescent. Adrenal Cortex Neoplasms / diagnosis. Adult. Aged. Aged, 80 and over. Angiofibroma / diagnosis. Carcinoid Tumor / diagnosis. Child. Facial Neoplasms / diagnosis. Female. Gastrinoma / diagnosis. Genetic Testing / methods. Humans. Insulinoma / diagnosis. Lipoma / diagnosis. Male. Meningioma / diagnosis. Middle Aged. Prolactinoma / diagnosis. Proto-Oncogene Proteins / genetics. Thyroid Neoplasms / diagnosis. Vasoactive Intestinal Peptide / blood. Vasoactive Intestinal Peptide / secretion. Young Adult

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  • (PMID = 17014705.001).
  • [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] 0 / MEN1 protein, human; 0 / Proto-Oncogene Proteins; 37221-79-7 / Vasoactive Intestinal Peptide
  • [Number-of-references] 64
  • [Other-IDs] NLM/ PMC1594566
  • [General-notes] NLM/ Original DateCompleted: 20070618
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2. Olubunmi OA: Misdiagnosis of tuberous sclerosis in a Nigerian girl: a case report and review of literature. Ann Afr Med; 2010 Apr-Jun;9(2):95-101
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  • Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy.
  • [MeSH-minor] Adolescent. Angiofibroma / diagnosis. Anticonvulsants / therapeutic use. Diagnostic Errors. Epilepsy / drug therapy. Epilepsy / etiology. Female. Humans. Intellectual Disability / etiology. Neurofibromatoses / diagnosis. Skin Neoplasms / diagnosis. Tomography, X-Ray Computed. Treatment Outcome. Valproic Acid / therapeutic use

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  • (PMID = 20587932.001).
  • [ISSN] 0975-5764
  • [Journal-full-title] Annals of African medicine
  • [ISO-abbreviation] Ann Afr Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Nigeria
  • [Chemical-registry-number] 0 / Anticonvulsants; 614OI1Z5WI / Valproic Acid
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3. Anisya-Vasanth AV, Satishchandra P, Nagaraja D, Swamy HS, Jayakumar PN: Spectrum of epilepsy in tuberous sclerosis. Neurol India; 2004 Jun;52(2):210-2
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  • Tuberous sclerosis (TS) is an autosomal dominant disease that affects the brain, skin, eye, heart and kidney.
  • There are relatively few Indian studies on this disorder.
  • Patients often had more than one seizure type.
  • Cutaneous manifestations were facial angiofibroma i.e. adenoma sebaceum (20), shagreen patches (7), hypopigmented macules (6), ash leaf spots (4), café-au-lait spots (2), facial hypoplasia (2) and periungual fibromas (1).
  • Most patients were on combinations of anti-convulsants and response to therapy was usually not very satisfactory.
  • [MeSH-minor] Adolescent. Anticonvulsants / therapeutic use. Child. Child, Preschool. Drug Therapy, Combination. Female. Humans. Infant. Male. Mental Disorders / etiology. Skin Diseases / etiology. Vigabatrin / therapeutic use


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4. Belcadhi M, Mani R, Harzallah M, Bouaouina N, Bouzouita K: [Nasopharyngeal angiofibroma with intracranial extension: situating the chemotherapy-radiotherapy association]. Cancer Radiother; 2008 Sep;12(5):385-8
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  • [Title] [Nasopharyngeal angiofibroma with intracranial extension: situating the chemotherapy-radiotherapy association].
  • [Transliterated title] L'angiofibrome nasopharyngien avec extension intracrânienne : place de l'association chimiothérapie-radiothérapie.
  • Nasopharyngeal angiofibroma is a locally aggressive, although histologically benign, vascular neoplasm.
  • Surgery is considered as the primary treatment of nasopharyngeal angiofibroma.
  • Other treatment modalities such as radiotherapy and chemotherapy are still recommended for intracranial extension involving the cavernous sinus or the internal carotid artery.
  • We report a rare case of nasopharyngeal angiofibroma, further complicated with a Kennedy syndrome in a 34 year-old women.
  • The treatment consisted in a chemotherapy (adriamycine, decarbazine) followed by radiotherapy.
  • We discuss the relevance and outcome of the association chemotherapy-radiotherapy in the treatment of nasopharyngeal angiofibromas with a consistent intracranial extension (stage III B of Arch Otolaryngol Head Neck Surg 122 (2003) 122-129).
  • [MeSH-major] Angiofibroma / drug therapy. Angiofibroma / radiotherapy. Brain Neoplasms / radiotherapy. Nasopharyngeal Neoplasms / drug therapy. Nasopharyngeal Neoplasms / radiotherapy

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  • (PMID = 18339570.001).
  • [ISSN] 1278-3218
  • [Journal-full-title] Cancer radiothérapie : journal de la Société française de radiothérapie oncologique
  • [ISO-abbreviation] Cancer Radiother
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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5. Durko M, Murlewska A, Gryczyński M, Ratyńska M, Pietruszewska W: [Angiofibroma of the nasal cavity and anterior ethmoid cells--problems in differential diagnosis]. Otolaryngol Pol; 2007;61(5):736-9
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  • [Title] [Angiofibroma of the nasal cavity and anterior ethmoid cells--problems in differential diagnosis].
  • [Transliterated title] Angiofibroma jamy nosa i komórek sitowych przednich u kobiety--problemy diagnostyki róznicowej.
  • BACKGROUND: Nasal angiofibromas are commonly called juvenile nasal angiofibromas (JNA) because of the almost exclusive occurrence in adolescent males.
  • It is a relatively rare benign fibrovascular tumor originating in the posterior lateral wall of the nasopharynx with only a very few cases diagnosed in females.
  • CASE REPORT: Authors present a case of a 26 y.o. woman with JNA in left nasal cavity with extension to the anterior left ethmoid cells diagnosed and surgically treated at the ENT Department, Medical University of Lodz.
  • Patient presented in past medical history: lymphoma malignum--abdominal location--surgical treatment and chemotherapy (1986) with no clinical signs of recurrence.
  • CT of paranasal sinuses in frontal and axial plains--left nasal cavity filled with a solid pathologic tissue.
  • Surgical treatment--tumor has been surgically resected with no complications.
  • CONCLUSION: Although angiofibroma in females is an extremely rare tumor of a sinonasal tract it should be taken into consideration in the differential diagnosis of all nasal cavity tumors (especially solitary fibrous tumor).
  • [MeSH-major] Angiofibroma / pathology. Ethmoid Sinus / pathology. Nose Neoplasms / pathology
  • [MeSH-minor] Adult. Diagnosis, Differential. Female. Humans. Nasal Cavity / surgery. Tomography, X-Ray Computed

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  • (PMID = 18552009.001).
  • [ISSN] 0030-6657
  • [Journal-full-title] Otolaryngologia polska = The Polish otolaryngology
  • [ISO-abbreviation] Otolaryngol Pol
  • [Language] pol
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Poland
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6. Turowski B, Zanella FE: Interventional neuroradiology of the head and neck. Neuroimaging Clin N Am; 2003 Aug;13(3):619-45
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  • Vascular interventions are important and helpful for treatment of various pathologies of the head and neck.
  • Interventional neuroradiology of the head and neck includes image-guided biopsies, vessel occlusion, and local chemotherapy.
  • Knowledge of anatomy, functional relationships between intra- and extracranial vessels, and pathology are the basis for therapeutic success.
  • Neuroradiologic imaging, especially CT and MR imaging, and appropriate analysis of angiographic findings help ensure indication for treatment and plan an intervention.
  • Examples of these interventions are: a hemangioma of the hard palate, a juvenile angiofibroma, a hemangiopericytoma, a malignant meningioma, a malignant fibrous histiocytoma, and a glomus tumor.
  • Effective treatment of vascular malformations, such as AV fistulas or angiomas, needs exact occlusion of the fistula or the angiomatous nidus, which is demonstrated in the case of an AV angioma of the base of the tongue.
  • Chemotherapy with local intra-arterial cisplatin combined with intravenous administration of sodium thiosulfate as antidote is indicated as an adjuvant modality in a multimodal regimen of oropharyngeal squamous cell carcinoma or as palliative treatment of recurrent and otherwise untreatable malignant tumors of the head and neck.
  • Palliative treatment of a bleeding oropharyngeal cancer is another example of interventional treatment.
  • Selective treatment, either occluding or pharmacologic, may be preoperative, palliative, or curative.
  • The objective is reduction of surgical risk, improvement of quality of life, or curative therapy of a lesion.
  • Thus, the interventional treatment should not be associated with morbidity or mortality.
  • The benefits, risks, and expected damages of neuroradiologic interventions must be balanced during the informed consent procedure with the patient.
  • [MeSH-major] Head and Neck Neoplasms / radiography. Head and Neck Neoplasms / therapy. Neuroradiography. Radiology, Interventional

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  • (PMID = 14631695.001).
  • [ISSN] 1052-5149
  • [Journal-full-title] Neuroimaging clinics of North America
  • [ISO-abbreviation] Neuroimaging Clin. N. Am.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 40
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7. Rauktys A, Lee N, Lee L, Dabora SL: Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model. BMC Dermatol; 2008;8:1
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  • The molecular mechanism underlying TSC is understood and there is evidence that systemic treatment with rapamycin or other mTOR inhibitors may be a useful approach to targeted therapy for the kidney and brain manifestations.
  • Topical treatments were compared with injected rapamycin and topical vehicle.
  • Rapamycin levels in blood and tumors were measured to assess systemic drug levels in all cohorts.
  • RESULTS: Treatment with topical rapamycin improved survival and reduced tumor growth.
  • Topical rapamycin treatment resulted in systemic drug levels within the known therapeutic range and was not as effective as injected rapamycin.
  • These findings could lead to a novel treatment approach for facial angiofibromas and other TSC skin lesions.
  • [MeSH-major] Antibiotics, Antineoplastic / administration & dosage. Enzyme Inhibitors / administration & dosage. Protein Kinases / drug effects. Sirolimus / administration & dosage. Soft Tissue Neoplasms / drug therapy. Tuberous Sclerosis / drug therapy
  • [MeSH-minor] Administration, Cutaneous. Animals. Cell Line, Tumor. Disease Models, Animal. Mice. Mice, Nude. Neoplasm Transplantation. Skin Absorption. Survival Analysis. TOR Serine-Threonine Kinases

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  • (PMID = 18226258.001).
  • [ISSN] 1471-5945
  • [Journal-full-title] BMC dermatology
  • [ISO-abbreviation] BMC Dermatol.
  • [Language] eng
  • [Grant] United States / NIDDK NIH HHS / DK / R01 DK066366
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antibiotics, Antineoplastic; 0 / Enzyme Inhibitors; EC 2.7.- / Protein Kinases; EC 2.7.1.1 / TOR Serine-Threonine Kinases; EC 2.7.1.1 / mTOR protein, mouse; W36ZG6FT64 / Sirolimus
  • [Other-IDs] NLM/ PMC2266897
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8. Labra A, Chavolla-Magaña R, Lopez-Ugalde A, Alanis-Calderon J, Huerta-Delgado A: Flutamide as a preoperative treatment in juvenile angiofibroma (JA) with intracranial invasion: report of 7 cases. Otolaryngol Head Neck Surg; 2004 Apr;130(4):466-9

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  • [Title] Flutamide as a preoperative treatment in juvenile angiofibroma (JA) with intracranial invasion: report of 7 cases.
  • OBJECTIVE: To determine the efficacy of flutamide as a tumor reduction factor in patients who have juvenile angiofibroma (JA) with intracranial invasion.
  • CT scan with measurements of the tumor was performed before and after the treatment with flutamide, and the results were compared.
  • [MeSH-major] Androgen Antagonists / therapeutic use. Angiofibroma / drug therapy. Antineoplastic Agents, Hormonal / therapeutic use. Flutamide / therapeutic use. Nasopharyngeal Neoplasms / drug therapy
  • [MeSH-minor] Adolescent. Brain / pathology. Child. Humans. Male. Neoplasm Invasiveness. Pilot Projects. Treatment Failure

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  • (PMID = 15100646.001).
  • [ISSN] 0194-5998
  • [Journal-full-title] Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • [ISO-abbreviation] Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Androgen Antagonists; 0 / Antineoplastic Agents, Hormonal; 76W6J0943E / Flutamide
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9. Tsai EC, Santoreneos S, Rutka JT: Tumors of the skull base in children: review of tumor types and management strategies. Neurosurg Focus; 2002 May 15;12(5):e1

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  • [Title] Tumors of the skull base in children: review of tumor types and management strategies.
  • Although many treatment strategies for skull base tumors in adults have been reported, relatively little has been reported regarding such therapies in the pediatric population.
  • Skull base tumors in children present a therapeutic challenge because of their unique pathological composition, the constraints of the maturing skull and brain, and the small size of the patients.
  • In this review, the authors examine the pediatric skull base lesions that occur in the anterior, middle, and posterior cranial base, focusing on unique pediatric tumors such as encepahalocele, fibrous dysplasia, esthesioneuroblastoma, craniopharyngioma, juvenile nasopharyngeal angiofibroma, cholesteatoma, chordoma, chondrosarcoma, and Ewing sarcoma.
  • They review management strategies that include radio- and chemotherapy, as well as surgical approaches with emphasis on the modifications and complications associated with the procedures as they apply in children.
  • Evidence for the advantages and limitations of radiotherapy, chemotherapy, and surgery as it pertains to the pediatric population will be examined.
  • With a working knowledge of skull base anatomy and special considerations of the developing craniofacial skeleton, neurosurgeons can treat skull base lesions in children with acceptable morbidity and mortality rates.
  • Outcomes in this population may be better than those in adults, in part because of the benign histopathology that frequently affects the pediatric skull base, as well as the plasticity of the maturing nervous system.
  • [MeSH-minor] Adolescent. Angiofibroma / radiotherapy. Angiofibroma / surgery. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child. Child, Preschool. Cholesteatoma / surgery. Chondrosarcoma / drug therapy. Chondrosarcoma / radiotherapy. Chondrosarcoma / surgery. Chordoma / surgery. Combined Modality Therapy. Craniopharyngioma / epidemiology. Craniopharyngioma / radiotherapy. Craniopharyngioma / surgery. Encephalocele / epidemiology. Encephalocele / surgery. Esthesioneuroblastoma, Olfactory / drug therapy. Esthesioneuroblastoma, Olfactory / mortality. Esthesioneuroblastoma, Olfactory / surgery. Female. Fibrous Dysplasia of Bone / pathology. Fibrous Dysplasia of Bone / surgery. Humans. Infant. Male. Neurosurgical Procedures / methods. Nose Neoplasms / radiotherapy. Nose Neoplasms / surgery. Pituitary Neoplasms / epidemiology. Pituitary Neoplasms / radiotherapy. Pituitary Neoplasms / surgery. Sarcoma, Ewing / therapy. Skull / pathology. Skull / surgery. Treatment Outcome

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  • (PMID = 16119897.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 143
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10. Danesi G, Panizza B, Mazzoni A, Calabrese V: Anterior approaches in juvenile nasopharyngeal angiofibromas with intracranial extension. Otolaryngol Head Neck Surg; 2000 Feb;122(2):277-83

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  • [Title] Anterior approaches in juvenile nasopharyngeal angiofibromas with intracranial extension.
  • Although surgery is regarded as the mainstay of treatment for juvenile nasopharyngeal angiofibromas (JNAs), ancillary treatment modalities such as radiotherapy and on rare occasions chemotherapy are still recommended by many for intracranial extension with apparent radiologic involvement of the cavernous sinus and internal carotid artery.
  • Total removal was achieved in 11 of the 14 cases with a single-stage procedure.
  • For the extracranial residual tumors 1 required a midface degloving and the other, with a 1-cm residual tumor in the nasopharynx, has been treated conservatively for 6 years with no evidence of growth.
  • We conclude that JNAs are tumors with a predilection for spread but that rarely invade dura, acting instead to displace it.
  • On the rare occasion that a lateral approach, with its attendant permanent conductive hearing loss, is found to be necessary for total tumor removal, this can be done as a staged procedure.
  • [MeSH-major] Angiofibroma / surgery. Nasopharyngeal Neoplasms / surgery
  • [MeSH-minor] Adolescent. Adult. Carotid Artery, Internal / pathology. Cavernous Sinus / pathology. Child. Humans. Magnetic Resonance Imaging. Male. Neoplasm Invasiveness. Tomography, X-Ray Computed

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  • (PMID = 10652407.001).
  • [ISSN] 0194-5998
  • [Journal-full-title] Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • [ISO-abbreviation] Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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11. Papakonstantinou E, Dionyssopoulos A, Aletras AJ, Pesintzaki C, Minas A, Karakiulakis G: Expression of matrix metalloproteinases and their endogenous tissue inhibitors in skin lesions from patients with tuberous sclerosis. J Am Acad Dermatol; 2004 Oct;51(4):526-33
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Expression of matrix metalloproteinases and their endogenous tissue inhibitors in skin lesions from patients with tuberous sclerosis.
  • Clarification of the molecular and structural changes involved in skin hamartomas may unravel targets for pharmacotherapy.
  • OBJECTIVE: We investigated the expression of matrix metalloproteinase (MMP) and its tissue inhibitor (TIMP) in fibrous plaques, angiofibromas, and lesion-free skin specimens from patients with tuberous sclerosis complex.
  • CONCLUSION: The significant variations of the above extracellular matrix molecules between lesion-free specimens and tuberous sclerosis complex hamartomas overall favors a collagenous protein-degrading microenvironment in affected skin, and argue in support of antiprotease treatment for disfiguring skin lesions.
  • [MeSH-major] Matrix Metalloproteinase Inhibitors. Matrix Metalloproteinases / metabolism. Skin / enzymology. Tissue Inhibitor of Metalloproteinases / metabolism. Tuberous Sclerosis / metabolism
  • [MeSH-minor] Adult. Collagenases / metabolism. Gelatinases / metabolism. Gene Expression. Humans. Male. Matrix Metalloproteinase 1 / metabolism. Matrix Metalloproteinase 13. Matrix Metalloproteinase 9 / metabolism. Matrix Metalloproteinases, Membrane-Associated. Metalloendopeptidases / metabolism. Tissue Extracts / metabolism. Tissue Inhibitor of Metalloproteinase-1 / metabolism. Tissue Inhibitor of Metalloproteinase-2 / metabolism

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  • (PMID = 15389186.001).
  • [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
  • [Chemical-registry-number] 0 / Matrix Metalloproteinase Inhibitors; 0 / Tissue Extracts; 0 / Tissue Inhibitor of Metalloproteinase-1; 0 / Tissue Inhibitor of Metalloproteinases; 127497-59-0 / Tissue Inhibitor of Metalloproteinase-2; EC 3.4.24.- / Collagenases; EC 3.4.24.- / Gelatinases; EC 3.4.24.- / MMP13 protein, human; EC 3.4.24.- / Matrix Metalloproteinase 13; EC 3.4.24.- / Matrix Metalloproteinases; EC 3.4.24.- / Matrix Metalloproteinases, Membrane-Associated; EC 3.4.24.- / Metalloendopeptidases; EC 3.4.24.35 / Matrix Metalloproteinase 9; EC 3.4.24.7 / Matrix Metalloproteinase 1
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12. Krstulja M, Car A, Bonifacić D, Braut T, Kujundzić M: Nasopharyngeal angiofibroma with intracellular accumulation of SPARC - a hypothesis (SPARC in nasopharyngeal angiofibroma). Med Hypotheses; 2008;70(3):600-4
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  • [Title] Nasopharyngeal angiofibroma with intracellular accumulation of SPARC - a hypothesis (SPARC in nasopharyngeal angiofibroma).
  • Nasopharyngeal angiofibroma is a histologically benign tumor composed of stroma and vessels.
  • Some nasopharyngeal angiofibromas are resistant to surgical therapy because of extensive growth and occasionally bone destruction.
  • It has been shown that molecular factors supporting residual tissue after incomplete surgery might be targeted with pharmacotherapy as a cell based therapy.
  • Because the cell of origin of nasopharyngeal angiofibroma is not recognized yet, it would be of interest to discuss molecule(s) relevant to all the cell components of the growth.
  • We propose that in nasopharyngeal angiofibroma the molecule responding to the cues mentioned above is SPARC (secreted protein acidic rich in cystein).
  • We discuss SPARC-enabling formation of molecular complexes important for the angiogenic events and present nasopharyngeal angiofibroma as a hyperplastic angiogenic machinery or a "soil" without "seed".
  • Therapeutic targeting of SPARC in nasopharyngeal angiofibroma would be targeting of a molecule at the roots of cooperation between stromatogenesis and angiogenesis, coexpressed with Ki67 in the vascular compartment.
  • Considering the intracellular accumulation of SPARC, the benefit of (anti) SPARC therapy in nasopharyngeal angiofibroma is yet to be proved.
  • [MeSH-major] Angiofibroma / pathology. Nasopharyngeal Neoplasms / pathology. Osteonectin / metabolism

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  • (PMID = 17681430.001).
  • [ISSN] 0306-9877
  • [Journal-full-title] Medical hypotheses
  • [ISO-abbreviation] Med. Hypotheses
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Scotland
  • [Chemical-registry-number] 0 / Osteonectin
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13. Windfuhr JP, Remmert S: [Extranasopharyngeal angiofibroma of the nasal cavity and paranasal sinuses]. Laryngorhinootologie; 2004 May;83(5):308-16
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Extranasopharyngeal angiofibroma of the nasal cavity and paranasal sinuses].
  • [Transliterated title] Extranasopharyngeale Angiofibrome der Nasenhaupt- und -nebenhöhlen.
  • BACKGROUND: Angiofibromas commonly arise in the nasopharynx in young male patients.
  • This study was undertaken to evaluate the incidence, clinical features and complications that may occur during the process of diagnosis and surgical therapy of angiofibromas outside the nasopharynx.
  • METHODS AND PATIENTS: Case report of a 13-year-old female patient and review of the literature.
  • RESULTS: Our patient received multi-agent chemotherapy elsewhere due to a misdiagnosed angiofibroma.
  • Computed Tomography (CT) revealed a maxillary tumor which was repeatedly biopsied.
  • In 38 patients, symptoms developed within 12 months or less (average: 8.5 months).
  • CONCLUSION: Extranasopharyngeal angiofibromas of the nasal cavity or paranasal sinuses should be included in the differential diagnosis of nasal tumors.
  • Compared to nasopharyngeal angiofibromas, more female patients are involved, symptoms develop more quickly but hypervascularity is less common.
  • Signs of questionable hypervascularity in Computed Tomography and Magnetic Resonance Imaging (MRI) should indicate arteriography prior to surgical procedures.
  • [MeSH-major] Angiofibroma / diagnosis. Nose Neoplasms / diagnosis. Paranasal Sinus Neoplasms / diagnosis
  • [MeSH-minor] Adolescent. Adult. Aged. Angiography. Biopsy. Child. Child, Preschool. Diagnosis, Differential. Female. Humans. Infant. Infant, Newborn. Male. Maxillary Sinus Neoplasms / diagnosis. Maxillary Sinus Neoplasms / pathology. Maxillary Sinus Neoplasms / surgery. Middle Aged. Nasal Cavity / pathology. Nasal Cavity / surgery. Paranasal Sinuses / pathology. Paranasal Sinuses / surgery. Tomography, X-Ray Computed

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  • (PMID = 15143448.001).
  • [ISSN] 0935-8943
  • [Journal-full-title] Laryngo- rhino- otologie
  • [ISO-abbreviation] Laryngorhinootologie
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 89
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14. Thuesen AD, Jakobsen J, Nepper-Rasmussen J: [Juvenile angiofibroma]. Ugeskr Laeger; 2005 Aug 22;167(34):3163-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Juvenile angiofibroma].
  • [Transliterated title] Juvenile angiofibromer.
  • Juvenile angiofibroma is a rare, benign, rich vascular tumor, and approximately one new case is diagnosed in Denmark each year.
  • Through the years, the treatment of juvenile angiofibroma has included many methods, including surgical excision, electrocoagulation, interstitial or external radiation therapy, cryosurgery, hormone administration and chemotherapy.
  • Radiation, chemotherapy and surgery have proven to be the most effective treatments.
  • Today, surgery preceded by embolization is the primary standard treatment.
  • [MeSH-major] Angiofibroma. Nasopharyngeal Neoplasms
  • [MeSH-minor] Adolescent. Adult. Diagnosis, Differential. Humans. Magnetic Resonance Imaging. Male. Tomography, X-Ray Computed

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  • [CommentIn] Ugeskr Laeger. 2005 Nov 21;167(47):4482 [16305784.001]
  • (PMID = 16117914.001).
  • [ISSN] 1603-6824
  • [Journal-full-title] Ugeskrift for laeger
  • [ISO-abbreviation] Ugeskr. Laeg.
  • [Language] dan
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Denmark
  • [Number-of-references] 25
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15. Krueger DA, Franz DN: Current management of tuberous sclerosis complex. Paediatr Drugs; 2008;10(5):299-313
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Tuberous sclerosis complex (TSC) is an important cause of epilepsy, autism, and renal and pulmonary disease in children and adults.
  • The clinical course of TSC and the prognosis and appropriate therapy for TSC patients are often different than that for individuals with epilepsy, renal tumors, or interstitial lung disease from other causes.
  • This article reviews the current therapeutic recommendations for medical and surgical management of neurologic, renal, and pulmonary manifestations of TSC.
  • In addition, recent clinical trials using inhibitors of the mammalian target of rapamycin (mTOR) have demonstrated regression of astrocytomas, angiofibromas, and angiomyoliomas, as well as improved pulmonary function in persons with TSC.
  • [MeSH-major] Tuberous Sclerosis / complications. Tuberous Sclerosis / therapy
  • [MeSH-minor] Antibiotics, Antineoplastic / therapeutic use. Child. Humans. Kidney Diseases / drug therapy. Kidney Diseases / etiology. Lung Diseases / drug therapy. Lung Diseases / etiology. Nervous System Diseases / drug therapy. Nervous System Diseases / etiology. Sirolimus / therapeutic use

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  • (PMID = 18754697.001).
  • [ISSN] 1174-5878
  • [Journal-full-title] Paediatric drugs
  • [ISO-abbreviation] Paediatr Drugs
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Antibiotics, Antineoplastic; W36ZG6FT64 / Sirolimus
  • [Number-of-references] 123
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16. Schick U, Marquardt G: Pediatric spinal tumors. Pediatr Neurosurg; 2001 Sep;35(3):120-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We present an overview of the clinical outcome and surgical treatment of 34 pediatric spinal tumors, carried out in our center from 1981 to 1999.
  • These pediatric tumors formed a very heterogeneous group, with a predominance of neurinomas and neurofibromas in older children and neuroblastomas or primitive neuroectodermal tumors in younger ones.
  • Extradural tumors included tumors such as aneurysmal bone cysts, Ewing's sarcoma, histiocytomas, chordomas and an angiofibroma.
  • Eighteen children underwent a combined treatment with chemotherapy and/or radiotherapy.
  • The spectrum of pathology is wide and requires multidisciplinary treatment.
  • [MeSH-minor] Adolescent. Antineoplastic Agents / therapeutic use. Child. Child, Preschool. Combined Modality Therapy. Decompression, Surgical. Female. Follow-Up Studies. Humans. Magnetic Resonance Imaging. Male. Recovery of Function. Retrospective Studies. Treatment Outcome

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  • [Copyright] Copyright 2001 S. Karger AG, Basel
  • (PMID = 11641619.001).
  • [ISSN] 1016-2291
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Antineoplastic Agents
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17. Micozkadioglu H, Koc Z, Ozelsancak R, Yildiz I: Rapamycin therapy for renal, brain, and skin lesions in a tuberous sclerosis patient. Ren Fail; 2010;32(10):1233-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rapamycin therapy for renal, brain, and skin lesions in a tuberous sclerosis patient.
  • Tuberous sclerosis complex (TSC) is an inherited multisystem disorder; it may involve kidney, brain, skin, lungs, and liver.
  • We report a 37-year-old female TSC patient presenting with skin lesions (angiofibromas, molluscum pendulum).
  • Treatment with rapamycin disclosed improvement in skin lesions.
  • The number and volume of angiofibromas and molluscum pendulum reduced progressively in 6 months.
  • During the ninth month of treatment, magnetic resonance imaging was repeated for renal and brain lesions.
  • Oral rapamycin therapy can improve renal, brain, and skin lesions in TSC disease.
  • Therefore, it may be an alternative therapy for TSC patients.
  • [MeSH-major] Brain Neoplasms / drug therapy. Immunosuppressive Agents / therapeutic use. Kidney Neoplasms / drug therapy. Sirolimus / therapeutic use. Skin Neoplasms / drug therapy. Tuberous Sclerosis / complications
  • [MeSH-minor] Adult. Angiofibroma / drug therapy. Angiofibroma / etiology. Facial Neoplasms / drug therapy. Female. Humans. Magnetic Resonance Imaging


18. Grieb S, Kruse R, Bruch-Gerharz D, Reifenberger J: [Tuberous sclerosis: diagnostic criteria and new treatment approaches]. Hautarzt; 2008 Oct;59(10):774-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Tuberous sclerosis: diagnostic criteria and new treatment approaches].
  • With a prevalence of 1 in 6,000 births, tuberous sclerosis is a relatively frequent hamartoma and tumor syndrome inherited as an autosomal dominant trait, which manifests primarily on the skin and in the central nervous system.
  • Treatment for many years consisted solely in using nonspecific symptomatic approaches; dermatological therapy comprised mainly laser or electroacoustic ablation of facial angiofibromas.
  • New models of therapy hinder the pathogenesis of tuberous sclerosis.
  • Synergistic effects were observed in combination therapy with the cytokine IFN-gamma.
  • [MeSH-major] Dermatologic Agents / therapeutic use. Interferon-gamma / therapeutic use. Skin Diseases / diagnosis. Skin Diseases / drug therapy. Tuberous Sclerosis / diagnosis. Tuberous Sclerosis / drug therapy

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  • [Cites] Am J Hum Genet. 1999 May;64(5):1305-15 [10205261.001]
  • [Cites] Pediatr Radiol. 2008 Sep;38(9):936-52 [18414839.001]
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  • (PMID = 18806968.001).
  • [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
  • [Chemical-registry-number] 0 / Dermatologic Agents; 0 / Recombinant Proteins; 82115-62-6 / Interferon-gamma
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19. Hofbauer GF, Marcollo-Pini A, Corsenca A, Kistler AD, French LE, Wüthrich RP, Serra AL: The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol; 2008 Aug;159(2):473-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis.
  • Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with an incidence of approximately one in 6000.
  • It arises from a genetic abnormality involving either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16.
  • Angiofibroma affects 70-80% of patients with TSC, typically on the face.
  • Immunosuppressive treatment with rapamycin, a specific mTOR inhibitor, initiated because of renal transplantation, reduced facial angiofibroma dramatically.
  • [MeSH-major] Angiofibroma / drug therapy. Facial Neoplasms / drug therapy. Sirolimus / therapeutic use. Skin Neoplasms / drug therapy. Tuberous Sclerosis / complications
  • [MeSH-minor] Adolescent. Antibiotics, Antineoplastic / therapeutic use. Female. Humans. Protein Kinase Inhibitors / therapeutic use. Protein Kinases / physiology. TOR Serine-Threonine Kinases


20. Peces R, Peces C, Cuesta-López E, Pérez-Dueñas V, Vega-Cabrera C, Azorín S, Selgas R: Low-dose rapamycin reduces kidney volume angiomyolipomas and prevents the loss of renal function in a patient with tuberous sclerosis complex. Nephrol Dial Transplant; 2010 Nov;25(11):3787-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • A 40-year-old man with sporadic TSC and a history of spontaneous bleeding from his left kidney AMLs received low-dose rapamycin for 12 months, and this was associated with a reduction in bilateral kidney AML volume, stabilization and even improvement of renal function.
  • There was also a reduction of facial angiofibromas, improvement of blood pressure control and absence of AML bleeding over this time period.
  • To the best of our knowledge, this is the first report of a case of reduction in renal AML volume together with preservation of renal function in a patient with TSC receiving low-dose rapamycin.
  • [MeSH-major] Angiomyolipoma / drug therapy. Kidney Neoplasms / drug therapy. Sirolimus / therapeutic use. TOR Serine-Threonine Kinases / antagonists & inhibitors. Tuberous Sclerosis / drug therapy

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  • (PMID = 20663789.001).
  • [ISSN] 1460-2385
  • [Journal-full-title] Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
  • [ISO-abbreviation] Nephrol. Dial. Transplant.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.1.1 / TOR Serine-Threonine Kinases; W36ZG6FT64 / Sirolimus
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21. Gil Z, Constantini S, Spektor S, Abergel A, Khafif A, Beni-Adani L, Leonor TL, DeRowe A, Fliss DM: Skull base approaches in the pediatric population. Head Neck; 2005 Aug;27(8):682-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Eighteen cases (27%) involved malignant tumors, and 49 (73%) involved benign tumors.
  • The most common benign tumors were craniopharyngioma (n = 10) and juvenile nasopharyngeal angiofibroma (n = 8).
  • Twenty-two children underwent adjuvant therapy (chemotherapy, radiation, or both).
  • RESULTS: No severe postoperative complications (ie, meningitis, cerebrospinal fluid leak, tension pneumocephalus) and no perioperative mortality occurred.
  • Five children, two with optic glioma and one each with squamous cell carcinoma, ependymoma, and germinoma, have died of their disease.
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Cohort Studies. Female. Humans. Infant. Male. Retrospective Studies. Survival Rate. Treatment Outcome

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  • [Copyright] Copyright 2005 Wiley Periodicals, Inc.
  • (PMID = 15957193.001).
  • [ISSN] 1043-3074
  • [Journal-full-title] Head & neck
  • [ISO-abbreviation] Head Neck
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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22. Bordel-Gómez MT, Monteagudo-Sánchez B, Alvarez-Fernández JC: [Multiple unilateral facial angiofibromas: description of a new case]. Actas Dermosifiliogr; 2008 Dec;99(10):824-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Multiple unilateral facial angiofibromas: description of a new case].
  • [Transliterated title] Angiofibromas faciales múltiples unilaterales: aportación de un nuevo caso.
  • [MeSH-major] Angiofibroma / genetics. Facial Neoplasms / genetics. Tuberous Sclerosis / diagnosis
  • [MeSH-minor] Adult. Calcium Phosphates / therapeutic use. Female. Glycopeptides / therapeutic use. Humans. Immunocompromised Host. Multiple Sclerosis / complications. Multiple Sclerosis / drug therapy

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  • (PMID = 19091228.001).
  • [ISSN] 0001-7310
  • [Journal-full-title] Actas dermo-sifiliográficas
  • [ISO-abbreviation] Actas Dermosifiliogr
  • [Language] spa
  • [Publication-type] Case Reports; Letter; Review
  • [Publication-country] Spain
  • [Chemical-registry-number] 0 / Calcium Phosphates; 0 / Glycopeptides; 87139-86-4 / Immunoferon
  • [Number-of-references] 16
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23. Haemel AK, O'Brian AL, Teng JM: Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis. Arch Dermatol; 2010 Jul;146(7):715-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis.
  • [MeSH-major] Angiofibroma / drug therapy. Facial Neoplasms / drug therapy. Immunosuppressive Agents / administration & dosage. Sirolimus / administration & dosage. Tuberous Sclerosis / complications

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  • [CommentIn] JAMA Dermatol. 2013 Feb;149(2):203 [23426474.001]
  • [CommentIn] Arch Dermatol. 2011 Sep;147(9):1116-7 [21931059.001]
  • (PMID = 20644030.001).
  • [ISSN] 1538-3652
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Immunosuppressive Agents; W36ZG6FT64 / Sirolimus
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24. Türkmen M, Ertam I, Unal I, Dereli T: Facial angiofibromas of tuberous sclerosis: successful treatment with podophyllin. J Eur Acad Dermatol Venereol; 2009 Jun;23(6):713-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Facial angiofibromas of tuberous sclerosis: successful treatment with podophyllin.
  • [MeSH-major] Angiofibroma / drug therapy. Face. Podophyllin / therapeutic use. Tuberous Sclerosis / complications

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  • (PMID = 18785889.001).
  • [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] 9000-55-9 / Podophyllin
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