\r\n\r\nIntroduction: H Syndrome is an autosomal recessive dis-order characterized by cutaneous hyperpigmentation, hy-pertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which enc-odes the human equilibrative transporter 3 (hENT3). H syndrome is a rare autoinflammatory syndrome with pleio-tropic manifestations that affect multiple organ systems. We are presenting first possible case of H syndrome re-ported in Iraq up to our knowledge. Clinical Case: A 14 year old Iraqi boy presented with abnormal lower limb hyperpigmentation, and symmetrical, indurated plaques with marked hypertrichosis over medial aspect of thighs and legs. The skin hyperpigmentation was not itchy and did not involve the feet and knees. This hyperpigmentation had been present for several months. The patient was known to have type 1 diabetes mellitus (DM) since 5 years of age and was treated with insulin with fair control, although without features of advanced microvascular diabetic complications. The patient had deafness and he was wearing a hearing aid device recently. Laboratory analysis showed normal kidney and liver function and normal blood counts but with subclinical hypo-thyroidism and surprisingly positive serology for celiac dis-ease and this feature was not reported in the few documented cases in the literature. Conclusion: This rare syndrome of skin hyperpigmentation, diabetes and deafness may represent the first reported case of H syn-drome in Iraq and occurrence of celiac disease is another manifestation that could be part of this syndrome.\r\n
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January 2025
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