Focal dermal hypoplasia [Goltz syndrome]

ABSTRACT

Focal Dermal Hypoplasia [FDH] is a condition of multiple features. It is important to recognize on clinical grounds, as it may show life threatening complications that need to be dealt with by properly timed interventions. A seven year old girl presented with a skin lesion that was present since birth It was distributed on the forehead, chest, upper abdomen, and buttocks .All four limbs were also involved .It consisted of linear areas of thinning of the skin, in which there was herniation of fatty tissue in the form of yellow papules, together with dyspigmentation and telangiectasia. The nails were dystrophic. There was complete syndactyly of the left second and third toes, and partial fusion of the right second and third toes. The teeth were all defective and many were carious. There are between 200-300 cases reported in literature, so it is not a rare condition. They are mostly females, as affected males do not usually survive. Papillomas in different sites may be symptomatic and require surgical intervention. It is a sex linked dominant condition associated with mutation of PORCN gene mapped to locus Xpll.23