Introduction

Lipoid proteinosis, or Urbach–Wiethe syndrome, is a rare autosomal recessive neurocutaneous disorder characterized by deposits of amorphous hyaline-like material in the skin and mucous membranes (Navarro et al., 1999). Over 300 cases have been reported. Urbach and Weithe have been credited with the first report of lipoid proteinosis (Barthelemy et al., 1986; Newton et al., 1971), but Seibenmann described a 19-year-old girl in 1908 who probably had the same condition (Muda et al., 1995).

Although the disease is rare, it is perhaps more common than was initially suspected because patients with few clinical features sometimes go unrecognized. The disorder is probably more common in people of South African or European descent but occurs in all groups (Hofer, 1973; Botha & Beighton, 1983; Bohme & Wahlgren, 1996; Nagasaka et al., 2000; Nanda et al., 2001).

Clinical manifestations

In most age groups, lipoid proteinosis results in characteristic skin (Figs. 40.1–40.3) and oropharyngeal mucous membrane lesions (Barthelemy et al., 1986; Newton et al., 1971; Muda et al., 1995; Staut & Naidich, 1998). Oral lesions appear before puberty and progress throughout life (Farolan et al., 1992; Barthelemy et al., 1986).

Skin lesions are usually first noted on the face and extremities as erythematous or yellowish papulovesicular eruptions. These skin lesions heal slowly and leave hyperpigmented acne-like scars (Muda et al., 1995). Areas subject to friction (e.g. elbows, heels, knees, and buttocks) become hyperkeratotic (Fig. 40.3) (Emsley & Paster, 1985; Hofer, 1973; Muda et al., 1995; Nanda et al., 2001).