[A tricho-odonto-onychial subtype of ectodermal dysplasia]

Area of Science:

• Dermatology
• Genetics
• Pediatrics

Background:

• Uncombable hair syndrome (UHS) is a rare hair shaft disorder.
• It is characterized by stiff, unruly hair that cannot be flattened.
• UHS is typically inherited in an autosomal dominant pattern.

Observation:

• A case presenting with UHS and additional features including peripilar casts, periodic nail shedding, abnormal dentition, and nipple dysplasia.
• The patient also exhibited Scheuermann's disease and atopic disorders with specific IgE sensitization.
• Electron microscopy was used to examine pili trianguli et canaliculi and peripilar casts.

Findings:

• The hair shafts showed characteristic pili trianguli et canaliculi.
• Peripilar casts, a less common finding, were also observed and analyzed.
• The combination of symptoms suggests a broader spectrum of ectodermal dysplasia.

Implications:

• This case expands the known clinical spectrum of uncombable hair syndrome.
• It highlights the potential association between UHS and other ectodermal abnormalities.
• The findings support the classification of this presentation as a tricho-odonto-onychial subtype of ectodermal dysplasia.