| Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito. | |
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MedLine Citation:
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PMID: 17314448 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child. |
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Authors:
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K Muhammed; Jenny Mathew |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian journal of dermatology, venereology and leprology Volume: 73 ISSN: 0973-3922 ISO Abbreviation: Indian J Dermatol Venereol Leprol Publication Date: 2007 Jan-Feb |
Date Detail:
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Created Date: 2007-02-22 Completed Date: 2007-03-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7701852 Medline TA: Indian J Dermatol Venereol Leprol Country: India |
Other Details:
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Languages: eng Pagination: 43-5 Citation Subset: IM |
Affiliation:
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Department of Dermatology and Venereology, Medical College, Kozhikode, Kerala, India. drmuhammedk@rediffmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Angiofibroma
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complications Brain / pathology Child, Preschool Epilepsy / complications Facial Neoplasms / complications Humans Hypopigmentation / complications*, diagnosis Magnetic Resonance Imaging Male Mental Retardation / complications Tuberous Sclerosis / complications*, diagnosis |
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