title: Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.
abstract: Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67-1G>T probably led to in-frame skipping of exon 68 (36-basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.
authors.affiliation: National Skin Centre, 1 Mandalay Road, Singapore.
authors.forename: Qiping
authors.initials: Q
authors.lastname: Chen
authors.forename: Joyce Siong-See
authors.initials: JS
authors.lastname: Lee
authors.forename: Hong Liang
authors.initials: HL
authors.lastname: Tey
mesh_terms: D000686:Amyloidosis / Q000150:complications*; D024143:Collagen Type VII / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000150:complications / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed / Q000150:complications
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII