clinical features

Last reviewed 01/2018

Characteristic early cutaneous features are small blisters and erosions on the backs of the hands, the forearms and the face following minor trauma, and primarily on light-exposed skin. The bullae are thin-walled and rupture easily, resulting in ulcerated skin lesions that heal slowly (1). The skin is more fragile especially on the dorsa of the hands but also occasionally on the feet. There may be numerous small milia particularly on the fingers and hands; these present as yellowish white, spherical keratin containing cysts, 1 to 5 mm in diameter.

Additionally, there may be areas of hyper- and hypo- pigmentation which may resemble chloasma. The central part of the face, particularly the periorbital areas, may be purplish red as in polycythaemia rubra vera.

Hypertrichosis may be evident. Women often present because of hair growth on the cheeks and on the forehead between the eyes; men complain of increasing difficulty to shave.

Sclerodermoid plaques may develop on both light exposed and less covered body areas. These tend to be scattered, waxy yellow to white, indurated plaques. Photodamage of conjunctival sclerae may be seen (2).

Reference:

• (1) Kuwahara RT et al. Glowing teeth. AFP 2005;71(1):123-4
• (2) Poulin V et al. 80-year-old man with anemia and blistering skin lesions. Mayo Clin Proc. 2004;79(9):1181-4