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Marie Unna hereditary hypotrichosis
G Argenziano1, E Sammarco, A Rossi
1Department of Dermatology, Federico II University of Naples, via Pansini 5, 8013 Napoli, Italy. argenziano@tin.it
European Journal of Dermatology : EJD
|August 28, 1999
Summary
Marie Unna hypotrichosis is a rare genetic condition causing sparse hair from birth. This study details a large Italian family affected by this autosomal dominant pilar dysplasia, characterized by hair shaft abnormalities.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Hereditary congenital hypotrichosis, specifically Marie Unna hypotrichosis, is an autosomal dominant pilar dysplasia.
- This condition is characterized by a diffuse hair defect, often presenting as an isolated phenomenon.
Observation:
- Ultrastructural examination of affected hair shafts reveals characteristic abnormalities.
- These abnormalities include both torsion and longitudinal grooving of the hair shaft.
Findings:
- A significant pedigree of Marie Unna hypotrichosis was identified in an extended Italian family.
- The pedigree spans 6 generations and includes 20 affected individuals.
Implications:
- This detailed pedigree provides valuable data for understanding the inheritance patterns of Marie Unna hypotrichosis.
- Further research into the genetic basis of this pilar dysplasia can inform diagnostic and therapeutic strategies.
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