[Goltz-Gorlin syndrome without focal dermal hypoplasia]

An unusual type of pigmentary disturbance is described in a 24-year-old man. The skin lesions consisted of patchy hyperpigmentation and hypopigmentation intermingled with teleangiectasias. They were distributed in a nevoid pattern following the lines of Blaschko. The patient had, in addition, multiple skin-colored papules in the cranial area of the gluteal fold, a fovea coccygea, and mild clinodactyly of both hands. Histopathologically, the dermis was of normal thickness and herniation of subcutaneous adipose tissue was absent in all five biopsies. This phenotype can be best explained as a case of Goltz-Gorlin syndrome without focal dermal hypoplasia. If this holds true, focal dermal hypoplasia in terms of a reduced thickness of the dermis is no longer a prerequisite for the diagnosis of the Goltz-Gorlin syndrome.