| Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? | |
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MedLine Citation:
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PMID: 9450882 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Follicular atrophoderma is a rare anomaly observed mainly in the X-dominant form of chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) and in the X-linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4-18 years old, with normal stature, diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse non-scarring hypotrichosis, and marked hypohidrosis. Steroid sulfatase activity, assessed in the two boys, was found to be normal. Electron microscopic studies of ichthyotic skin did not show any specific abnormality. The association of congenital diffuse ichthyosis with follicular atrophoderma and hypotrichosis has not been reported before. The patients were reminiscent of Bazex syndrome; however, ichthyosis is not a component of Bazex syndrome. We conclude that this syndrome of congenital ichthyosis with follicular atrophoderma represents a new autosomal recessive genodermatosis. |
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Authors:
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G G Lestringant; W Küster; P M Frossard; R Happle |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 75 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Jan |
Date Detail:
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Created Date: 1998-03-24 Completed Date: 1998-03-24 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 186-9 Citation Subset: IM |
Affiliation:
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Tawam Hospital, Al Ain, United Arab Emirates. gglest@emirates.net.ae |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Adolescent Adult Arylsulfatases / metabolism Child Child, Preschool Consanguinity Female Humans Hypohidrosis / pathology* Hypotrichosis / pathology* Ichthyosis / pathology* Male Microscopy, Electron Pedigree Skin / pathology Skin Abnormalities / pathology* Steryl-Sulfatase |
| Chemical | |
Reg. No./Substance:
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EC 3.1.6.1/Arylsulfatases; EC 3.1.6.2/Steryl-Sulfatase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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