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| Fig. 6.5 Recessive dystrophic epidermolysis bullosa. Severe scarring resulting in loss of functional digits. |
In the recessive form of this condition, hemorrhagic blisters are typically present at birth. The blistered areas heal with scarring that can lead to the loss of functional digits in the hands (Fig. 6-5). Oral and esophageal involvement causes feeding problems with resultant esophageal stricture. The teeth are malformed, and multifactorial anemia is common. The dominant form of the disease is less severe and tends to be more localized. Atrophic scarring is still the rule over affected areas. A unique dominant dystrophic form exists (transient bullous dermolysis in the newborn) that is only transient. The blistering tendency decreases with age.
Christiano AM, Fine JD, Uitto J: Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene,
J Invest Dermatol 109:811–814, 1997.
Das BB, Sahoo S: Dystrophic epidermolysis bullosa,
J Perinatol 24:41–47, 2004.
