| CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. | |
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MedLine Citation:
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PMID: 19906044 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia. PATIENTS AND METHODS: A 9-month-old female infant presented with skin and limb defects involving the right side of her body. Clinical and laboratory evaluation was performed, including DNA sequence analysis of the NSDHL gene. RESULTS: Our patient presented with some of the typical clinical characteristics of CHILD syndrome, i.e. two large erythematous plaques with sharp borders, covered with yellow, wax-like scaling, on the right axilla and on the right groin, dysplastic right hand and alopecia of the right occipital area. The diagnosis was confirmed by DNA screening analysis, that detected a missense mutation c.314C-->T;p-A105V, in the coding region of the NSDHL gene (exon4) of our patient. CONCLUSIONS: This is the first report of CHILD syndrome ever reported in Greece. We suggest that the diagnosis of the syndrome is important for patient information and genetic counselling. |
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Authors:
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G P Avgerinou; A P Asvesti; A D Katsambas; V A Nikolaou; E C Christofidou; K H Grzeschik; R Happle |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-11-02 |
Journal Detail:
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Title: Journal of the European Academy of Dermatology and Venereology : JEADV Volume: 24 ISSN: 1468-3083 ISO Abbreviation: J Eur Acad Dermatol Venereol Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-06-22 Completed Date: 2010-10-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9216037 Medline TA: J Eur Acad Dermatol Venereol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 733-6 Citation Subset: IM |
Affiliation:
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1st Department of Dermatology, A Sygros Hospital, University of Athens, Greece. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/300275; 308050 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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3-Hydroxysteroid Dehydrogenases
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genetics* Erythema / ethnology, genetics* Female Greece Humans Infant Limb Deformities, Congenital / ethnology, genetics* Mutation, Missense / genetics Nevus / ethnology, genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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EC 1.1.-/3-Hydroxysteroid Dehydrogenases; EC 1.1.1.170/Nsdhl protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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