Congenital Generalized Hypertrichosis: The Skin as a Clue to Complex Malformation Syndromes

August 2015 in “ The Italian Journal of Pediatrics/Italian journal of pediatrics ”

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

congenital generalized hypertrichosis hypertrichosis hirsutism acquired hypertrichosis

TLDR Excessive body hair can signal complex health issues.

The document reviewed congenital generalized hypertrichosis, a rare condition characterized by excessive body hair growth, which could be isolated or part of complex malformation syndromes. It distinguished hypertrichosis from hirsutism and classified it based on onset, distribution, and association with other anomalies. While congenital hypertrichosis was rare, acquired hypertrichosis was more common and linked to various causes like drug side effects and metabolic disorders. The review highlighted that hypertrichosis often accompanied other clinical signs such as intellectual delay and epilepsy. A 20-year follow-up of a previously described patient was also discussed, emphasizing the condition's role as an indicator of complex syndromes.

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