| Summary: | Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A 7-year-old boy, presented with loose, sagging skin chiefly over the face, extremities, and skin folds since birth with recurrent respiratory and systemic complaints. The patient had a characteristic senile bloodhound appearance. Chest X-ray findings included emphysema, bronchopneumonia, and pulmonary hypertension. Ultrasonographic examination showed cystitis and bladder diverticula. Two-dimensional echocardiography showed primary pulmonary hypertension. Histopathological examination with Verhoeff-Van-Gieson stain showed markedly reduced elastic fibers. Serum amino acids, copper, and ceruloplasmin were normal. About sixty cases of autosomal recessive cutis laxa type 1 (ARCL-1) have been reported in literature. There is no definitive treatment available at present, and symptomatic management is the mainstay of treatment. Differential diagnosis includes Ehlers–Danlos syndrome, congenital disorders of glycosylation syndrome, and pseudoxanthoma elasticum. We report this case of ARCL-1 for its rarity and complex systemic involvement.
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