Hypertrichosis Cubiti: Another Case of a Well-Recognized but Under-Reported Entity

Abstract

Hypertrichosis cubiti, also named hairy elbows syndrome, is an uncommon variety of congenital, circumscribed hypertrichosis with a remarkable amount of long vellous hair localized on the extensor surfaces of the upper extremities. It may appear both as a familial or sporadic form. In most patients, it is not associated with any other physical anomalies, although short stature and other development disorders have been described. We report a case occurring sporadically in a 5-year-old girl without associated abnormalities, and with a negative family history.

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome

“…Hypertrichosis cubiti (“hairy elbow”) is a well‐recognized but under‐reported entity [Martinez de Lagran et al, ]. This may be associated with genetic syndrome like WSS or nonspecific systems involvement.…”

“…WSS was defined as the presence of hypertrichosis cubiti with variable additional features [Flannery et al, ; MacDermot et al, ]. As Martinez de Lagran et al [] highlighted, the phenotypic spectrum of WSS may, therefore, be much broader if hypertrichosis cubiti is not a universal finding. Both twins reported here had the hypertrichosis cubiti.…”

Hypertrichosis cubiti, a case report and literature review

“…A number of reports link hypertrichosis cubiti to short stature and/or developmental delay [1,2,8,9,11,12,[15][16][17][18][19], but this so far has been reported only in cases which were thought to have a possible link to a syndrome [1,9,16,20]. In the sporadic cases, endocrine and chromosomal studies have been normal [13,[21][22][23][24] and are not linked to mental or physical abnormalities. The excess hair often resolves by adolescence [7,8,13,21,22], except for one case that persisted into adulthood [10].…”

“…In the sporadic cases, endocrine and chromosomal studies have been normal [13,[21][22][23][24] and are not linked to mental or physical abnormalities. The excess hair often resolves by adolescence [7,8,13,21,22], except for one case that persisted into adulthood [10]. It has also been suggested that this condition is far more prevalent but under-reported, for instance in male chil- dren of dark-haired races, and in some of these cases it may be considered part of the range of physiological difference, instead of a pathological problem [22,25].…”

“…The excess hair often resolves by adolescence , except for one case that persisted into adulthood . It has also been suggested that this condition is far more prevalent but under‐reported, for instance in male children of dark‐haired races, and in some of these cases it may be considered part of the range of physiological difference, instead of a pathological problem . These are summarized in Table .…”