Focal dermal hypoplasia (Goltz syndrome).

Abstract

Goltz et all reported three females in 1962 with a mesoectodermal condition which they called focal dermal hypoplasia (FDH); this rare, multisystem condition is now often referred to as Goltz syndrome. In an extensive review of published reports by Gorlin et a12 in 1963, 11 previously described cases were found, the first in 1921 by Jessner.3 Although the cutaneous features predominate in most reports and have given the condition its name, characteristic abnormalities are also frequently present in the nails, hair, skeletal system, and eyes. A total of 88% of reported cases has been female4 and X linked dominant inheritance with lethality in males has been proposed as the likely mode of inheritance.5