H syndrome - A case report
A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family.

Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally.

Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies' titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein.

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