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[Ambras syndrome--a form of generalised congenital hypertrichosis]
Onufry Torbus1, Franciszek Sliwa
1Katedra i Klinika Gastroenterologii, Alergologii i Zaburzeń Rozwojowych Wieku Dzieciecego, Zabrzu Slaskiej Akademii Medycznej.
Insights
Generalized congenital hypertrichosis, a rare condition, was diagnosed in an infant. This case of Ambras syndrome highlights a rare genetic mutation causing excessive hair growth.
Area of Science:
- Genetics
- Dermatology
- Human Biology
Background:
- Generalized congenital hypertrichosis is an extremely rare condition with an incidence of approximately 1 in a billion.
- Historical records indicate only four cases of this atavism in Poland during the Middle Ages.
Observation:
- An 8-month-old infant presented with congenital, generalized dark, delicate hair growth.
- Specific facial features included hypertelorism and a wide nose with horizontal nasal holes.
- Areas like palms, soles, and distal phalanges were hairless, while the head, back, and extremities had significant hair growth.
Findings:
- The infant exhibited dense, concrescent eyebrows and lanugo covering nasal alae and holes.
- Hormonal metabolism was normal, with no signs of dentition, and delayed skeletal age and psychomotor development.
- Diagnosis of Ambras syndrome was confirmed, likely due to a genetic mutation.
Implications:
- This case represents one of the few documented instances of Ambras syndrome globally since the Middle Ages.
- Further research into the genetic underpinnings of Ambras syndrome is warranted.
- Understanding such rare genetic conditions contributes to broader knowledge of human development and genetic diversity.
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.