Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: A Case Report

This case report described a six-year-old boy with congenital generalized hypertrichosis terminalis, a rare condition characterized by excessive growth of pigmented terminal hair, gingival hyperplasia, and a coarse face. The boy, born to non-consanguineous parents, also had congenital hydronephrosis and a heterozygous deletion on chromosome 17q12. Despite normal intellectual development, he exhibited shyness and dependency on his mother. Laboratory tests showed normal results, and a right-sided nephrectomy was performed due to severe hydronephrosis. The report highlighted the need for regular follow-ups with endocrinologists and nephrologists due to potential risks of diabetes mellitus and renal issues. Laser hair removal was initiated and proved effective. The study suggested a possible genetic link involving chromosome 17q but noted that a specific molecular abnormality had not been identified.