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[Pili torti et canaliculi in ectodermal dysplasia]
R M Trüeb1, M A Spycher, F Schumacher
1Dermatologische Klinik, Universitätsspital Zürich.
Summary
Uncombable hair syndrome, a genetic condition, requires diagnosing associated abnormalities and hair microscopy. Specific hair shaft defects like pili torti et canaliculi are key indicators in rare ectodermal dysplasia syndromes.
Area of Science:
- Dermatology and Genetics
- Medical Diagnostics
Background:
- Uncombable hair syndrome presents as a heterogeneous symptom with a partial genetic basis.
- Accurate diagnosis necessitates identifying associated abnormalities, conducting pedigree analyses, and performing hair shaft examinations.
Observation:
- Scanning electron microscopy revealed pili torti et canaliculi, helicotrichia, and cuticular dystrophy in patients with ectodermal dysplasia syndromes.
- These findings were observed in ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and familial tricho-odonto-onychial ectodermal dysplasia with syndactyly.
Findings:
- Congenital pili torti et canaliculi are distinct from pili torti and pili trianguli et canaliculi (uncombable hair).
- These conditions can manifest in hypotrichosis congenita hereditaria of Marie-Unna or complex ectodermal dysplasia syndromes with cleft lip/palate and limb defects.
Implications:
- Differentiating congenital pili torti et canaliculi is crucial for diagnosing various ectodermal dysplasia syndromes.
- Syndromes like Hay-Wells (AEC) and Rapp-Hodgkin may share etiological links with these hair shaft abnormalities.