Aggressive Squamous Cell Carcinoma in Kindler Syndrome: An Unusual Case

Abstract

A 57‐year‐old Hispanic man with a personal and family history of bullae and photosensitivity, presented with a fungating, ulcerated Squamous Cell Carcinoma (SCC) on his left hand. Physical exam showed conjunctival injection, urethral stricture, symblepharon, loss of teeth, short stature, nail dystrophy and extensive poikiloderma. Excision and lymph node dissection showed moderate to poorly differentiated deeply invasive SCC, necessitating an amputation. Two of three axillary lymph nodes were positive. A random biopsy of the trunk showed epidermal atrophy, telangiectasia and pigment laden macrophages consistent with poikiloderma. Electron microscopy (EM) illustrated extensive reduplication of the basement membrane with loops, curls and free extensions of the basal lamina in the superficial dermis, reduced numbers of hemidesmosomes and anchoring fibrils, and a basement membrane focally devoid of basal cells. On the basis of the clinical features and the characteristic basement zone changes, a diagnosis of Kindler Syndrome (KS) was rendered. KS is a rare autosomal recessive photosensitivity disorder which contains features of both congenital poikiloderma and dystrophic epidermolytic bullosa, and has unique EM features. Despite the photosensitivity, few cases of malignancy in KS have been reported.