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01.12.2015 | Review | Ausgabe 1/2015 Open Access

Italian Journal of Pediatrics 1/2015

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

Italian Journal of Pediatrics > Ausgabe 1/2015
Piero Pavone, Andrea D. Praticò, Raffaele Falsaperla, Martino Ruggieri, Marcella Zollino, Giovanni Corsello, Giovanni Neri
Wichtige Hinweise

Competing interest

None of the authors have any competing interests in the manuscript.

Authors’ contributions

PP and ADP conceived of the study and wrote the manuscript; RF and MR performed the revision of the literature; MZ revised the part regarding the genetic; GC and GN revised the entire manuscript. All authors read and approved the final manuscript.


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.
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