Case 1

Abstract

A 22‐year‐old man presented with progressive skin and mucous membrane changes since early childhood. He had multiple warty papules on the dorsum of the hands and similar lesions on the trunk, buttocks and eye‐lid margins (Fig. 1). Most papules were skin‐coloured. Scarring was also evident. The inside of his cheeks and lips felt pebbly in places and his voice had gradually become more hoarse. He also had occasional episodes of frontal headache but no history of seizures, visual disturbance or hearing loss. He was born of nonconsanguineous parents and had two brothers and two sisters who were clinically normal. ... Skin biopsy (axilla) showed extensive hyperkeratosis, acanthosis and papillomatosis. Extensive deposition of amorphous material was seen in the papillary dermis around capillaries and sweat glands extending to the deep dermis. The hyaline material was Periodic–Acid Schiff (PAS) positive and resistant to diastase digestion (Fig. 2). ... What is your diagnosis?