Focal dermal hypoplasia in a male
https://doi.org/10.4081/dr.2011.e7
Submitted: 12 June 2011
Accepted: 14 June 2011
Published: 1 July 2011
Accepted: 14 June 2011
Abstract Views: 862
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Focal dermal hypoplasia (FDH) is a rare mesoectodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft-tissue defects. An X-linked dominant mode of inheritance with lethality in male subjects has been proposed. Only around 30 cases of FDH have been reported in male subjects. Live born affected males are mosaic for mutations in PORCN gene . We present the mosaic pattern of FDH in a young boy.
Supporting Agencies
noneGeorge, L., Agrawal, N., & Hogan, P. (2011). Focal dermal hypoplasia in a male. Dermatology Reports, 3(1), e7. https://doi.org/10.4081/dr.2011.e7
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