Trichothiodystrophy Without Associated Neuroectodermal Features in Two Siblings

This document described a case of trichothiodystrophy (TTD) in two sisters who exhibited only the characteristic brittle hair without any associated neuroectodermal features, which is unusual for this condition. TTD is typically marked by sulfur-deficient brittle hair and can include a range of neuroectodermal symptoms, but in this case, the sisters showed no signs of photosensitivity, intellectual impairment, or other common symptoms. The diagnosis was confirmed through clinical examination and microscopy, which revealed specific hair shaft abnormalities. This case added to the limited number of reported instances of "mild" TTD, emphasizing the need for regular follow-up to monitor for potential development of other symptoms.