Literature DB >> 8491876

Focal dermal hypoplasia: four cases with widely varying presentations.

S L Kilmer1, A W Grix, R R Isseroff.   

Abstract

We describe four patients with focal dermal hypoplasia (FDH): a girl with classic FDH, a boy with cutaneous findings, an infant with severe multisystem disease, and the infant's mother, who had previously undiagnosed FDH. These patients illustrate the classic cutaneous manifestations of FDH and the variations that can exist within a family.

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Year:  1993        PMID: 8491876     DOI: 10.1016/0190-9622(93)70113-8

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  1 in total

1.  Angioma serpiginosum is not caused by PORCN mutations.

Authors:  Rudolf Happle
Journal:  Eur J Hum Genet       Date:  2009-04-01       Impact factor: 4.246

  1 in total

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