Focal dermal hypoplasia

Definition:

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly, polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are frequently reported. Mutations in the PORCN gene have been shown to cause the disease.

References:

[1]. Diane Maalouf, et al. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Arch Dermatol. 2012 Jan;148(1):85-8. [Content Brief]

[2]. Maria Paola Lombardi, et al. Mutation update for the PORCN gene. Hum Mutat. 2011 Jul;32(7):723-8. [Content Brief]

[3]. P Leoyklang, et al. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet. 2008 Apr;73(4):373-9. [Content Brief]

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