Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

Abstract

Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

“…H may be generalized or circumscribed, congenital or acquired where congenital is loosely interpreted as that seen in early infancy (1,2,3). Th e clinical pattern of hypertrichosis varies, ranging from lanugo, to vellous and terminal hairs (4).…”

“…Th ere are more than 29 diff erent terms in the literature: "bear man", "dog man", "ape man"; "wild man", human Skye terriers, werewolves, and Homo sylvestris. Idiopathic CGH is assumed to be related to an excess of stimulation of the hair follicles with normal levels of androgen-like hormones and it may be a classical example of an atavistic reversion of a suppressed ancestral gene (4). Although it is now believed that most people with CGH have an unknown genetic defect, up to date, a clear specifi c molecular abnormity has not been established (4).…”

“…Idiopathic CGH is assumed to be related to an excess of stimulation of the hair follicles with normal levels of androgen-like hormones and it may be a classical example of an atavistic reversion of a suppressed ancestral gene (4). Although it is now believed that most people with CGH have an unknown genetic defect, up to date, a clear specifi c molecular abnormity has not been established (4). However, specifi c molecular defects have been reported in well-known syndromes presenting with hypertrichosis (4).…”

Cutaneous Lesions Indicating Occult Spinal Dysraphisms: A Review

“…1) that impacts the entire body, or more focal patches of hair growth (Pavone et al, 2015;; Schropp et al, 2006). Hypertrichosis can further be defined based on the age of onset (as congenital or acquired), pattern of distribution, site(s) involved, and whether it exists as an isolated anomaly or is associated with other abnormalities (Pavone et al, 2015).…”

“…Hypertrichosis can further be defined based on the age of onset (as congenital or acquired), pattern of distribution, site(s) involved, and whether it exists as an isolated anomaly or is associated with other abnormalities (Pavone et al, 2015). Acquired hypertrichosis is known to occur more commonly than the congenital form, however congenital hypertrichosis is associated with OSD and other spinal anomalies (Pavone et al, 2015). It has been established that anomalies such as spinal dysraphism are more commonly associated with focal hairy patches as opposed to diffuse hypertrichosis (Kriss and Desai, 1998;; Schropp et al, 2016).…”