[Type IV Ehlers-Danlos syndrome of acrogeria type]

A familial case of acrogeria, occurring in a mother and her daughter, is reported. A 12-year old mentally retarded girl was seen with a history of repeated ecchymoses despite normal hemostasis. On clinical examination, the skin was diffusely atrophic with atrophy and wrinkling most pronounced on the extremities. The venous pattern was noticeable on the upper aspect of the anterior trunk and the extremities. The feet were small and the nose was pinched. "Cigarette paper" scars and molluscoid pseudotumors were seen over the elbows and the knees. Some skin hyperextensibility was noted and loose-jointedness of the fingers was demonstrated. The fingernails, hair, dentition, and bone roentgenograms were normal. The mother, a 34-year old woman, presented with the same abnormalities and reported the same condition in her mother. A younger brother was normal and there was no history of consanguinity. In both cases, the skin biopsy specimens showed dermal atrophy with irregular increase of the elastic staining material in the mid dermis. Ultrastructural studies showed a widened endoplasmic reticulum within the fibroblasts. Biochemical studies, performed in the daughter, showed complete lack of collagen III in the dermis. This, together with the visceral complications occurring in the mother and in previously reported patients, suggests that acrogeria represents a clinical variant of Ehlers-Danlos type IV. Its association with phenylketonuria in the daughter is considered to be coincidental.