Other Recessive Dystrophic Subtypes

Non-Hallopeau-Siemens RDEB also presents at birth with generalized blistering, and milia, scarring, alopecia, and other scalp abnormalities and nail dystrophy are common; however, other manifestations, including blistering of the mouth, anemia, growth failure, pseudosyndactyly, gastrointestinal and eye problems appear milder. Squamous cell carcinoma of the skin still may occur in early adulthood.

Other subtypes of RDEB include acral DDEB, pretibial RDEB, RDEB inversa and RDEB centripetalis.

Acral RDEB typically presents during infancy with blistering that is confined mostly to the hands and feet. Milia, scarring and nail dystrophy occur commonly, but systemic complications are not observed.

Pretibial DDEB presents at birth or during infancy with blisters that occur predominantly on the hands, feet, nails and lower legs and develop at birth or during infancy. Milia, scarring, nail dystrophy, increased frequency of dental caries and constipation occur commonly, but other systemic complications are not seen.

RDEB inversa presents at birth with blistering typically confined to intertriginous areas such as the axillae (under the arms), under the breasts, the neck and in the groin areas, and hands and feet, the chest and the lower back. Milia, scarring and nail dystrophy are common. Oral (mouth) blisters may be severe and may result in scarring with microstomia. Although dental enamel is normal, dental caries are common. Anemia and growth failure may occur, and involvement of the intestines/gastrointestinal tract and genitourinary tract may be severe with the development of esophageal, anal and urethral strictures. Females with RDEB inversa report vaginal scarring. Stenosis (narrowing) of the external auditory (ear) canal has been reported. Involvement of the eyes and the trachea/respiratory tract does not occur. Partial pseudosyndactyly may occur. Predisposition to skin cancer does not occur in association with RDEB inversa.

RDEB centripetalis presents at birth or in infancy with blistering confined to the lower legs, fingers and toes. Milia, scarring and nail dystrophy are common, and oral blisters may occur, but, otherwise, there are no associated systemic complications.