A young girl with H syndrome and coeliac disease

Abstract

H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hypogonadism, and low height.<br /> This is the case of a 19-year-old girl from the northwest of Iran who was born of a cousin marriage. The primary manifestations included low height, underdeveloped secondary sex characteristics, and typical dermatological manifestations. This patient was examined mostly because of digestive and endocrine problems and thus had not been subject to extensive dermatological examinations until the skin biopsies mirrored manifestations similar to histiocytoses (e.g., Rosai-Dorfman disease and granuloma annulare). The patient was eventually diagnosed with H syndrome by a dermatologist<br /> from the clinical symptoms.<br /> H syndrome is an autosomal recessive genodermatosis that affects different organs and is diagnosed by a set of typical and systemic cutaneous symptoms and biopsies. In this patient, an endoscopic examination of the upper gastrointestinal tract was carried out due to reports of anemia. A biopsy of the atrophic duodenum region revealed the existence of coeliac disease. However, the comorbidity of coeliac disease and H syndrome has not been previously reported.<br />