| Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. | |
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MedLine Citation:
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PMID: 20635335 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion. |
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Authors:
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Marco Castori; Michele Valiante; Marco Ritelli; Nicoletta Preziosi; Marina Colombi; Mauro Paradisi; Paola Grammatico |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2043-7 Citation Subset: IM |
Affiliation:
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Medical Genetics, Department of Experimental Medicine, Sapienza - University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it |
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