Armaghan Gharehaghaji Zare; Afsaneh Radmehr; Faranak Ghasemi
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, ...
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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. 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 from the clinical symptoms. 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.
Armaghan Gharehaghaji Zare; Faranak Ghasemi; Asal Sadri; Ghazal Sadri
Abstract
Progeroid syndromes, one of which is metageria, are characterized by signs of premature aging with multiple systemic and skin symptoms. Here we describe an 8-year-old girl with no historyof specific underlying disease in her family, no hair growth at the scalp since she was born, and taller ...
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Progeroid syndromes, one of which is metageria, are characterized by signs of premature aging with multiple systemic and skin symptoms. Here we describe an 8-year-old girl with no historyof specific underlying disease in her family, no hair growth at the scalp since she was born, and taller and thinner than her peers. We noticed diffuse subcutaneous fat atrophy. The patientwas referred to Sina Hospital, Tabriz because of the appearance of pseudomilia lesions throughout the body following pulse corticosteroid therapy. Proper and timely diagnosis of progeroid syndromes is important in preventing undesirable side effects. Introducing this case is important as it prevents other patients from undergoing corticosteroid therapy due to misdiagnoses, such as alopecia areata.