Case Report
Autosomal recessive Cutis laxa with an inguinal hernia: a rare inherited dis- order of connective tissue
Author Details
1. Assistant Professor, Dermatology & Venereology, Bangabandhu Sheikh Mujib Medical University
2. Professor, Dermatology & Venereology, Bangabandhu Sheikh Mujib Medical University
Abstract Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A 16-month-old boy, presented with loose, redundant skin chiefly below the chin, trunk, extremities since birth with scrotal swelling and difficulty in micturition. The patient had a characteristic senile bloodhound appearance. Histopathological examination showed markedly reduced elastic fibres in the dermis. There is no definitive treatment available at present. Differential diagnosis includes Ehlers–Danlos syndrome, congenital disorders of glycosylation syndrome, and pseudoxanthoma elasticum. That case is an important subject to report for its rarity and complex systemic involvement. Keywords: Cutis Laxa, Elastolysis, Autosomal recessive cutis laxa. |
Keywords: Cutis Laxa, Elastolysis, Autosomal Recessive Cutis Laxa