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The document reviewed congenital generalized hypertrichosis, a rare condition characterized by excessive body hair growth, which could be isolated or part of complex malformation syndromes. It distinguished hypertrichosis from hirsutism and classified it based on onset, distribution, and association with other anomalies. While congenital hypertrichosis was rare, acquired hypertrichosis was more common and linked to various causes like drug side effects and metabolic disorders. The review highlighted that hypertrichosis often accompanied other clinical signs such as intellectual delay and epilepsy. A 20-year follow-up of a previously described patient was also discussed, emphasizing the condition's role as an indicator of complex syndromes.

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.