Endocrine Abstracts

Introduction: The H syndrome, an autosomal recessive genodermatosis, is characterized by cutaneous and systemic manifestations resulting from mutations in the SLC29A3 gene (10q22.2), leading to histiocytic infiltration of multiple organs. This study presents a new observation of H syndrome.

Observation: We report the case of a 33-year-old patient, born of consanguineous parents, with a history of diabetes diagnosed at the age of 28 and treated with oral antidiabetic drugs (OAD). Hospitalized for an acidocetotic decompensation associated with acute pyelonephritis and an abscess of the anal margin, she exhibited poorly controlled diabetes (HbA1c=11.7%) under OAD. Clinical examination revealed a pronounced dysmorphic syndrome, characterized by bilateral, symmetrical, hyperpigmented, and thickened plaques present for five years, with hypertrichosis. These lesions were observed not only on the inner thighs but also in the pubic and lumbar regions. The patient also presented buttock lipodystrophy, swelling with hyperpigmentation of the labia majora, camptodactyly, hallux valgus, and dental deformity. Erythematous, annular, and figurate lesions, slightly keratotic without atrophy, were present on the cheeks and nose. Dermoscopy revealed multiple telangiectasias forming a reticulated network. A 4mm punch biopsy showed a lymphocytic and histiocytic infiltrate, with positive immunohistochemistry for CD68. The patient had a short stature (1.53m) of familial origin, hepatomegaly associated with bicytopenia (leukoneutropenia and hypochromic microcytic anemia at 5.8 g/dl), elevated ferritin levels (273.3 ng/ml), and low serum iron (2.1 umol/l) persisting even after sepsis resolution. An osteomedullary biopsy revealed grade 2 medullary fibrosis, excluding neoplastic infiltration. The diagnosis of H syndrome was confirmed through histological and immunohistochemical examinations. Echocardiography was normal, and the patient was referred to an Ear, Nose, and Throat (ENT) specialist for hearing loss screening. Follow-up since insulin initiation demonstrated good glycemic control.

Conclusion: This case highlights the importance of considering H syndrome in diabetic patients with atypical cutaneous, hematological, and skeletal manifestations. The management of this complex condition requires a multidisciplinary approach involving specialists in dermatology, endocrinology, hematology, and genetics. This observation contributes to enhancing the understanding of the links between H syndrome and diabetes, emphasizing the need for a comprehensive evaluation for optimal management of this rare pathology.