Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa

Scott Wexelblatt, MD; Nancy Howard, RN, NNP; and Amy Nathan, MD

Cincinnati Children’s Hospital Medical Center

Urethral Prolapse

A baby boy born at 39 weeks’ gestation to a 26-year-old mother (gravida 1, para 0) after normal vaginally delivery was noted to have peeling and absence of skin on the right hand and feet at birth. Prenatal history was unremarkable. The mother took no medications except for prenatal vitamins. The parents are first cousins.

On detailed examination, the infant was also found to have pustules and milia on the right ear. In the special care nursery after brief pacifier use and one bottle feeding, oral mucosal erosion developed.

Although the circumferential absence of skin on the right foot could be indicative of amniotic band syndrome or aplasia cutis congenita, the peeling skin on the right hand and the development of new mucosal lesions were more suggestive of epidermolysis bullosa (EB). Skin biopsy confirmed the diagnosis of recessive dystrophic EB.

EB is a group of genetic disorders caused by mutations that alter or eliminate structural proteins important for maintenance of epidermal integrity. The 4 major types and more than 30 subtypes of EB are characterized by skin breakdown and blisters that occur in response to minor trauma. The condition affects 1 in every 50,000 live births in the United States, with 92% of cases being EB simplex, 5% dystrophic EB, 1% junctional EB, and 2% remaining unclassified.1 In this patient, the presence of lesions at birth and their generalized location are typical of dystrophic EB. Dystrophic or absent nails are also common with this type of EB.

Urethral ProlapseWound care and limitation of skin trauma is currently the only therapy for EB. Affected newborns have increased nutritional and fluid requirements, and gastrostomy tube placement is recommended if early feeding becomes problematic,2 as was the case in this patient.

EB is a lifelong disorder, with significant morbidity and mortality. Scarring of mucosal surfaces can lead to esophageal strictures, and repeated blister formation of the extremities results in pseudosyndactyly or mitten deformities.3 Mitten deformity of this patient’s left foot had begun to develop within a month of discharge. Ocular involvement can range from mild conjunctival irritation to severe cicatrization of the eyelids, cornea, and conjunctiva. The risk for ocular complications in recessive dystrophic EB is as high as 10% to 18% in the first year of life.4

Mortality is most commonly caused by overwhelming sepsis from skin breakdown, malnutrition, or later development of squamous cell carcinoma. Advocacy groups such as Dystrophic Epidermolysis Bullosa Research Association of America (www.debra.org) are invaluable resources for patients and families living with EB.


1. Fine JD, Bauer EA, McGuire J, Moshell A, eds. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins University Press; 1999.

2. MacDonald MG, Mullet MD, Seshia MM. Avery’s Neonatology Pathophysiology & Management of the Newborn. 6th ed. Philadelphia: Lippincott, Williams & Wilkins; 2005:1493-1494.

3. Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatol Clin. 2010;(28):107-114.

4. Figueira EC, Murrell DF, Coroneo MT. Ophthalmic involvement in inherited epidermolysis bullosa. Dermatol Clin. 2010;(28):143-152.