| A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. | |
| | |
MedLine Citation:
|
PMID: 11907515 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with lethality for male embryos. Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome. The most striking clinical feature is an inflammatory nevus that usually shows a unique lateralization with strict midline demarcation. Ipsilateral defects involve all skeletal structures and internal organs such as the brain, the lung, the heart, or the kidney. As an exception to this rule, in some cases the CHILD nevus may occur in a more or less bilateral distribution. In 1997 Fink-Puches et al described a case of CHILD nevus with an almost symmetric arrangement. To test the correctness of the diagnosis, we now examined blood lymphocytes of this patient by single-strand conformation analysis and genomic sequencing. We identified a novel missense mutation in NSDHL that potentially may impair protein function. We conclude that a diagnosis of CHILD syndrome can be based on clinical features such as the highly characteristic morphology of the CHILD nevus. A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome, and this bilateral involvement should not mislead the clinician to any other diagnosis. Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations. |
| | |
Authors:
|
Arne König; Rudolf Happle; Regina Fink-Puches; Hans Peter Soyer; Dorothea Bornholdt; Hartmut Engel; Karl-Heinz Grzeschik |
Related Documents
:
|
1518845 - X chromosome-linked kallmann syndrome: stop mutations validate the candidate gene. 8123575 - Melanotic macules following blaschko's lines in mccune-albright syndrome. 8178815 - Imprinting mutations suggested by abnormal dna methylation patterns in familial angelma... 16050525 - The genetics of congenital diaphragmatic hernia. 5557915 - "complications" of the landry-guillain-barr?-strohl syndrome. 156485 - Kartagener's syndrome--a reappraisal. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Journal of the American Academy of Dermatology Volume: 46 ISSN: 0190-9622 ISO Abbreviation: J. Am. Acad. Dermatol. Publication Date: 2002 Apr |
Date Detail:
|
Created Date: 2002-03-21 Completed Date: 2002-05-03 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7907132 Medline TA: J Am Acad Dermatol Country: United States |
Other Details:
|
Languages: eng Pagination: 594-6 Citation Subset: IM |
Affiliation:
|
Department of Dermatology, Philipp University, Deutchhausstrasse 9, D-35033 Marburg, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
3-Hydroxysteroid Dehydrogenases
/
genetics* Abnormalities, Multiple / genetics* Adolescent Female Humans Limb Deformities, Congenital / genetics* Linkage (Genetics) Mutation, Missense* Nevus / genetics*, pathology Polymerase Chain Reaction Skin Neoplasms / genetics*, pathology Syndrome X Chromosome |
| Chemical | |
Reg. No./Substance:
|
EC 1.1.-/3-Hydroxysteroid Dehydrogenases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: George Cheyne Shattuck's dissertation on the skin.
Next Document: Methotrexate treatment for refractory subacute cutaneous lupus erythematosus.