Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report

The document presents a case of a five-year-old Indian child diagnosed with Trichothiodystrophies (TTD), specifically the PIBIDS subtype, which is characterized by photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature. This case is unique as it also involves autoimmune thyroiditis and autoimmune hemolytic anemia (AIHA), which have not been previously associated with TTD. The child exhibited symptoms such as severe dry skin, brittle hair, and intellectual disability. Blood tests revealed a hemoglobin level of 3 g/dL, positive anti-nuclear antibodies, and abnormal thyroid hormone levels, leading to the diagnoses of AIHA and autoimmune thyroiditis. The child was treated with topical emollients, sunscreen, levothyroxine supplementation, and intravenous immunoglobulin. The authors suggest that the novel autoimmune associations seen in this case may be due to mutations in genes responsible for repairing UV and oxidative agent induced DNA damage, and call for further research.