Focal dermal hypoplasia syndrome

Last revised by Daniel J Bell on 17 Nov 2019

Focal dermal hypoplasia syndrome, is also known as Goltz syndrome, and is not to be confused with the similar-sounding Gorlin-Goltz syndrome.

A rare disorder that follows an X-linked dominant inheritance pattern. More commonly seen in males than females. Worldwide only 200-300 cases have been reported, and the usual case presentation is at birth. 

Mainly due to a mutation in the PORCN gene located on the X chromosome at locus p11.23.

The disease was first described by American dermatologist Robert William Goltz (1923-2014) 3 in 1962 1.

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