Trichothiodystrophy: Case Report
January 2007
in “
Revista del Centro Dermatológico Pascua
”
TLDR A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
Trichothiodystrophy was described as an autosomal recessive neuroectodermal defect characterized by fragile hair on the scalp, eyebrows, and eyelashes, with hair showing a distinct pattern of alternating clear and dark bands under polarized microscopy. Chemical analysis revealed low cystine levels, a sulfur-containing amino acid. Patients also exhibited intellectual impairment, reduced fertility, and short stature. The document reported a case of a 2-year-old male patient diagnosed with this condition.
