title: [Ambras syndrome--a form of generalised congenital hypertrichosis].
abstract: The frequency incidence of generalised congenital hypertrichosis is about 1 to billion of people. There are only 4 reported cases of this atavism in Poland from Middle Ages. Authors describe 8-months-old infant covered (from birth) with dark, delicate hair. The length of the hair ranged from a few millimetres on the abdominal region to 5 cm on the back and extremities and 20 cm on head. Eyelids, sub orbital regions, ridge and tip of the nose, palms, feet, palmar and lateral surfaces of fingers and distal phalanxes were hairless. Especially long hair covered pre-temporal and pre-auricular regions, shoulders, spine and extremities. Eyebrows were dense and concrescent. Nasal alae and holes were covered with lanugo. Ears were covered with long and auditory canals with short hair. The face was characterised by hypertelorism, wide nose with horizontal nasal holes. Hormonal metabolism was normal. There was no sign of dentition. Skeletal age was 2 months and psychomotor development--3 months delayed. Upon the basis of above-mentioned features the Ambras syndrome, which occurred due to a mutation, was diagnosed. It is probably the tenth case described since Middle Ages.
authors.affiliation: Katedra i Klinika Gastroenterologii, Alergologii i Zaburzeń Rozwojowych Wieku Dzieciecego, Zabrzu Slaskiej Akademii Medycznej.
authors.forename: Onufry
authors.initials: O
authors.lastname: Torbus
authors.forename: Franciszek
authors.initials: F
authors.lastname: Sliwa
mesh_terms: D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000175:diagnosis*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
vernacular_title: Zespół Ambras--postać uogólnionego wrodzonego nadmiernego owłosienia.