Summary

46 Barber say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). it has been described in less than 20 patients in the medical literature. barber say syndrome has a variable presentation, with reports of both mild and severe cases. inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. a recent study suggests that at least some cases of barber say syndrome are caused by dominant mutations in the twist2 gene. treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach

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