چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده | نفر چندم مقاله |
|---|---|
| ارمغان قره آغاجی زارع | اول |
| عنوان | متن |
|---|---|
| کلمات کلیدی | H syndrome, hyperpigmentation, hypertrichosis, hypogonadism, Coeliac disease, Rosai-Dorfman disease |
| خلاصه مقاله | Introduction: H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in SCL29A3 gene. The clinical characteristic of this syndrome consists of dermatological manifestations including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hypogonadism, and low height. Case presentation: This is the case of a 19-year-old girl from the northwest of Iran that was the fruit of a cousin marriage. The primary manifestations included low height, underdeveloped secondary sex characteristics, and typical dermatological manifestations. This patient had been examined mostly because of digestive and endocrine problems and thus she 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 on account of the clinical symptoms. Conclusion: 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 our patient, the endoscopic examination of the upper gastrointestinal tract was carried out due to the reports of anemia. The biopsy of the atrophic duodenum regions revealed the existence of coeliac disease. However, the comorbidity of coeliac disease and H syndrome had not been previously reported. |
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