This 52-year-old woman had a lifelong history of generalized skin fragility and blistering with resultant chronic erosions, many of which have healed with atrophic scarring. She had mild oral disease, but her teeth were lost as a result of poor dentition and enamel defects. She also complained of hair and nail loss. She was 1 of 11 children, and 2 additional siblings were similarly affected. A brother died at age 5 from complications of his skin disease. A 50-year-old brother had similar problems with hair, nails, skin, and dentition. The patient had 2 children who were healthy and unaffected. In recent years treatment included episodic oral antibiotics, topical antibiotics and wound care products. Dentures and wigs have been used for cosmetic correction of dental abnormalities and alopecia, respectively. : Junctional EB is characterized by blister formation in the lamina lucida of the basement membrane zone, as part of the hemidesmosomes or anchoring filaments. There is a spectrum of phenotypes, depending on the molecular defects. There are two broad subtypes: Herlitz with severe disease and premature death and “non-Herlitz” with more benign course and better prognosis. All are inherited in an autosomal recessive fashion.
GABEB is a relatively mild form of junctional EB in which the molecular defect is in BP180 (collagen XVII). It is a non-lethal form that presents at birth with generalized skin involvement. Most patients survive into adulthood. Blisters heal without milia but with atrophy and pigmentation. There are typically dental caries due to enamel hypoplasia and tooth pitting. Non-scarring alopecia is also common, beginning in childhood resulting in a loss of scalp hair, eyebrows, and a sparse distribution of body hair. Nail dystrophy is also seen. Mucosal disease is minimal. The teeth and hair abnormalities worsen in adulthood while the skin fragility and blistering can improve somewhat with age.
At this time, there are no specific therapies for inherited epidermolysis bullosa. Care of these patients centers on trauma prevention, infection control and treatment and wound healing through advanced wound care products. Gene therapy may provide some promise in the future.
References:
Fine JG. Epidermolysis Bullosa. In Bolognia, JL, Jorizzo JL, Rapini RP eds. Dermatology. Mosby 2003: 491-501.
Marinkovich MP et al. Inherited Epidermolysis Bullosa. In Freedberg IM , Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SA eds. Fitzpatricks’s Dermatology in General Medicine, sixth edition. McGraw-Hill 2003: 596-609.
Mazzanti C et al. 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. British Journal of Dermatology 1998; 138:859-866.
Description
multiple generalized .2-1.0 cm areas of full thickness skin erosions, some with reepithelialization as well as areas of violaceous atrophic scarring
