| Ectodermal dysplasia-skin fragility syndrome. | |
| | |
MedLine Citation:
|
PMID: 21727700 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India. |
| | |
Authors:
|
Vijay S Adhe; Atul M Dongre; Uday S Khopkar |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Indian journal of dermatology, venereology and leprology Volume: 77 ISSN: 0973-3922 ISO Abbreviation: Indian J Dermatol Venereol Leprol Publication Date: 2011 Jul-Aug |
Date Detail:
|
Created Date: 2011-07-05 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7701852 Medline TA: Indian J Dermatol Venereol Leprol Country: India |
Other Details:
|
Languages: eng Pagination: 503-6 Citation Subset: IM |
Affiliation:
|
Department of Dermatology, Seth GS Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Generalized eruptive histiocytosis mimicking leprosy.
Next Document: Spontaneous regression of a congenital melanocytic nevus.