A 7-year-old girl has a history of acral blistering since infancy, progressive poikeloderma, and severe photosensitivity. She also has gingival bleeding and esophageal strictures. The underlying defect is in which protein?

• A Collagen VII
• B Keratin 5
• C Kindlin-1 ✓
• D Integrin α6β4

Explanation

Kindler syndrome is a rare autosomal recessive genodermatosis caused by mutations in the FERMT1 gene encoding Kindlin-1, a cytoplasmic protein involved in actin-extracellular matrix adhesion. It is unique among epidermolysis bullosa subtypes because the defect is in a non-structural protein. The clinical picture includes acral blistering, photosensitivity, progressive poikeloderma, and mucosal involvement. Collagen VII defects cause dystrophic EB, Keratin 5 causes EB simplex, and integrin α6β4 defects cause junctional EB with pyloric atresia.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.