Hypertrichosis cubiti, a case report and literature review

Abstract

Key Clinical MessageHypertrichosis cubiti is an uncommon congenital hypertrichosis with links to genetic syndromes, both autosomal dominant and recessive, with variable penetrance and expressivity. It may also present in sporadic cases with no phenotypic abnormalities or family history.

Developmental delay and autism with hypertrichosis cubiti: a clue to the diagnosis of Wiedemann-Steiner syndrome

“…Hypertrichosis cubiti has variable penetrance, expressivity and has also been reported in Weill-Marchesani syndrome and floating harbour syndrome. 4 Other features in WSS include feeding difficulties, failure to thrive, epilepsy, ophthalmologic, dental abnormalities, and visceral anomalies including vertebral anomalies, and immune dysfunction. 2 Behavioural concerns and autism are present in one fifth of the cases.…”

Localized hypertrichosis of intermammary cleft in monozygotic twins

“…Cases of localized hypertrichosis have been reported in the literature to involve such body areas as the anterior cervical neck, lumbosacral spine, and elbows . Congenital localized hypertrichosis may occur as an isolated finding in healthy individuals or as a syndromic finding in the setting of multiple congenital abnormalities, whereas acquired localized hypertrichosis is often secondary to trauma or circumscribed inflammation of the skin Overall, hypertrichotic conditions are rare, and their exact etiology is not always well understood.…”

“…Congenital localized hypertrichosis may occur as an isolated finding in healthy individuals or as a syndromic finding in the setting of multiple congenital abnormalities, whereas acquired localized hypertrichosis is often secondary to trauma or circumscribed inflammation of the skin Overall, hypertrichotic conditions are rare, and their exact etiology is not always well understood. It has been postulated that the majority of congenital cases have an autosomal‐dominant or ‐recessive inheritance pattern, although sporadic development of localized hypertrichosis due to a de novo genetic mutation is possible …”

Hipertricosis cubital en una paciente con pubarquia precoz. Caso clínico

“…La otra mitad asocian talla baja, y son estos los casos en que, habitualmente, se han descrito otras manifestaciones, como dismorfia facial, alteraciones psicomotoras y del lenguaje o anormalidades esqueléticas (Tabla 2), aunque la relación con la hipertricosis es discutida. 4,5 La benignidad del proceso en los casos sin manifestaciones asociadas hace improbable que las familias consulten por este motivo y, más aún, que sea reconocido como una patología por el profesional sanitario o que decida su comunicación científica, con lo que es posible que esta entidad sea mucho más frecuente de lo esperable por los escasos casos reportados. Sirve de ejemplo nuestro caso, en que la consulta inicial no estuvo motivada por el vello anormal en los codos (curiosamente, tampoco por el inicio precoz de vello púbico antes de los 8 años en niñas o pubarquia precoz).…”