trichothiodystrofi

Trichothiodystrophy (TTD) is a rare group of autosomal recessive genetic disorders characterized by sulfur-deficient brittle hair, intellectual disability, and ectodermal abnormalities. The brittle hair, a hallmark of the condition, has a reduced sulfur content, leading to its characteristic appearance and fragility. This hair often has a tiger-tail banding pattern when viewed under a microscope.

Beyond the hair abnormalities, individuals with TTD typically exhibit a range of developmental and physical challenges. These can include varying degrees of intellectual disability, short stature, skin issues such as dryness, scaling, and photosensitivity, and nail abnormalities. Ocular manifestations are also common, with some individuals experiencing problems with vision. The severity and specific combination of symptoms can differ significantly among affected individuals, even within the same family.

The underlying cause of TTD lies in mutations in genes involved in nucleotide excision repair (NER), a crucial DNA repair pathway. These mutations disrupt the normal functioning of NER, leading to cellular damage and the characteristic clinical features. Diagnosis is usually made based on clinical presentation, particularly the hair abnormalities, and can be confirmed through genetic testing. Currently, there is no cure for TTD, and management focuses on supportive care to address the various symptoms and improve quality of life. This may involve physical and occupational therapy, educational support, and dermatological care.