| Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions. | |
| | |
MedLine Citation:
|
PMID: 11531972 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fabry disease (FD) is an X-linked recessive inborn error of glycosphingolipid metabolism. Among clinical symptoms, maculopapular skin lesions, known as angiokeratoma, most often appear on the lower abdomen, scrotum, and thighs, with a tendency toward bilateral symmetry. A 30-year-old male patient was referred to us for evaluation of a complex vascular and cutaneous malformation. Skin examination showed numerous angiokeratoma, which had developed only on the right part of the body, with a sharp delineation in the midline of the trunk. The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA). This mutation was also demonstrated in DNA extracted from fibroblast cultures established from both affected and unaffected skin areas, thus excluding the hypothesis of somatic mosaicism or revertant mosaicism. Interestingly, the diagnosis of Klippel-Trénaunay-Weber syndrome (KTWS) was also made, through clinical and radiological investigations. This is the first report on the association between FD and KTWS. Karyotype analysis was normal. It is likely that the mixed vascular malformations of KTWS affecting capillary and venous systems have contributed to the unusual angiokeratoma distribution pattern observed in the patient. |
| | |
Authors:
|
D P Germain |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Clinical genetics Volume: 60 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 2001 Jul |
Date Detail:
|
Created Date: 2001-09-04 Completed Date: 2001-09-27 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
|
Languages: eng Pagination: 63-7 Citation Subset: IM |
Affiliation:
|
Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, F-75015 Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Base Sequence Fabry Disease / complications, genetics, pathology* Humans Karyotyping Klippel-Trenaunay-Weber Syndrome / complications, genetics, pathology* Male Mutation, Missense Skin Diseases / complications* alpha-Galactosidase / genetics |
| Chemical | |
Reg. No./Substance:
|
EC 3.2.1.22/alpha-Galactosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
Next Document: Hemochromatosis mutations C282Y and H63D in 'cis' phase.