Hairy elbows syndrome

background

Hairy elbows syndrome (HES), or hypertrichosis cubiti, is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These genetic disorders can be inherited in an autosomal dominant or recessive manner.
Symptoms of HES include excessive congenital hair growth on the elbows. The hair usually appears symmetrically on the outer surface of the elbows at birth as soft, downy hair, then transforms into the type of hair typically found on the arms, and then becomes more pronounced in early childhood. The hair growth usually regresses partially or fully in adolescence. Onset of hypertrichosis cubiti as late as the age of five has also been reported. Abnormal hair growth may also occur on other parts of the body. Additional symptoms include facial abnormalities, short stature, and intellectual disabilities.
HES is an inherited genetic disorder (it is passed down among family members). The exact genetic mutation or defect that causes HES is unknown at this time. It is possible that there may be more than one gene defect that can lead to HES. It is not clear how HES is inherited. There are reports of both autosomal dominant and recessive inheritance, as well as cases of spontaneous mutation.
HES was first described in 1970. HES is extremely rare, with fewer than 30 known cases reported in the scientific literature. HES may be a pure physiological feature and not a medical problem needing treatment. Reports on the lifespan of individuals with HES are lacking. However, because the symptoms do not seem to be serious, it is unlikely that there would be a decrease in lifespan from this condition.

Related Terms

Ectodermal dysplasia, hairy elbows, hairy elbows dysplasia, hypertrichosis cubiti.