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

Piero Pavone,Marcella Zollino,Raffaele Falsaperla,Martino Ruggieri,Giovanni Corsello,Andrea D Praticò,Giovanni Neri

doi:10.1186/s13052-015-0161-3

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.

Highlights

In the normal individual, hair follicles are enclosed in the skin with the exception of the palms, soles, and lips
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 [1]
The aim of the present study is to offer a clinical survey of generalized congenital hypertrichosis (CGH) and the most common malformation syndromes in which

Summary

Introduction

Hair follicles are enclosed in the skin with the exception of the palms, soles, and lips. 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 [1]. The term hirsutism is usually reserved for patients, mainly female, who show extensive hair growth in androgen-dependent areas and with male pattern distribution [2]. The clinical pattern of hypertrichosis can vary in individuals, ranging from lanugo to vellous and terminal hairs. Hypertrichosis is classified in different subgroups according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved (elbow, neck, lumbosacral region) and to whether isolated or associated with various abnormalities [8, 9]. The acquired circumscribed form may be secondary to local pressure, inflammatory lesions, inappropriate use of cosmetics, and to hormonal or steroid stimulation of the skin [7]

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