Autosomal recessive cutis laxa type-1 with complex systemic manifestations
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 sy...
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| Main Authors: | , , , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2018-01-01T00:00:00Z.
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| 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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| Item Description: | 2319-7250 10.4103/ijpd.IJPD_65_17 |