Focal dermal hypoplasia syndrome

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.

Clinical presentation



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

Differential diagnosis

History and etymology

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