[Skip to Content]
[Skip to Content Landing]
July 1978

Focal Dermal Hypoplasia Syndrome: The Second Known Case in Japan

Author Affiliations

From the Department of Dermatology, Nagoya City University School of Medicine, Japan.

Arch Dermatol. 1978;114(7):1078-1079. doi:10.1001/archderm.1978.01640190062021

Almost 50 cases of focal dermal hypoplasia syndrome1 have been reported. About one third are of Mexican origin,2 while there is only one report from Japan,3 which suggests a racial predisposition to this congenital disorder. We add the second Japanese case to the literature.

Report of a Case  The patient was the product (2,800 g; 47 cm) of a normal pregnancy. She was the second daughter of healthy parents who were born of the same mother but who had different fathers. Neither family history of congenital disorder nor miscarriage by her mother was noted.At the age of 10, she weighed 23 kg, was 130.5 cm tall (Japanese average: 32 kg, 137.6 cm), was mentally well developed, and showed no neurological disturbances. Her right lower leg was shorter than the left and shows oligosyndactyly caused by the absence of the fibula and several foot bones. She had