Hypertrichosis Lanuginosa Congenita

Description

Congenital hypertrichosis lanuginosa is a rare disorder characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles (summary by De Raeve and Keymolen, 2011).

Clinical Features

Beighton (1970) observed a 6-year-old boy with extreme generalized hypertrichosis. He was born with double eyebrows. The father, grandfather, and great-grandfather had excessive hair over the entire body until about age 4. Other males in each generation escaped the excessive hairiness, and the trait may have been transmitted through an unaffected female. There was no gingival fibromatosis (135400) in this family.

De Raeve and Keymolen (2011) reported a 15-month-old boy who presented with a history of excessive hairiness since birth that increased progressively during infancy. At presentation, he had excess long, dark blond, silky hair on the face, ears, trunk, and limbs. There was accentuation of the hairiness over the lumbosacral spine and sacrum. His eyebrows were thick and coarse, and his eyelashes were very long. He had a coarse face and a sacral dimple. There were no additional clinical features, and extensive laboratory analyses were normal. His karyotype was normal. Family history revealed that his father had been unusually hairy during infancy. He was observed to have coarse eyebrows and long eyelashes at the time of his son's evaluation. The father also had severe dental caries and wore complete dental prostheses by age 27 years.

Inheritance

Felgenhauer (1969) described affected mother, son, and daughter and reviewed the literature exhaustively. Dominant inheritance was demonstrated by the family of Peter Gonzales who was born in the Canary Islands in 1556 and later lived in the court of King Henry II of France. He, 3 of his children, and some in the next generation were affected (Ravin and Hodge, 1969). Affected mother and son were described by Durand and Durand (1957).