EBS Dowling-Meara (EBS-DM) is another generalized form of EBS. It probably is the most severe form of EB simplex, but, as with all subtypes of EB, the severity is variable. Infants often are born with widespread blisters on the face, body and limbs. Congenital localized absence of skin (also known as aplasia cutis congenita and, historically, as Bart's syndrome) may be present at birth and usually affects the arms and/or legs. Often, with severely affected infants, parents report the occurrence of as many as 200 blisters per day. The widespread blistering of EBS-DM may lead to serious infection, along with feeding problems and the development of failure to thrive. Death rarely has been reported during infancy.
Blisters occur more frequently the weather is hot and humid. Increased physical and emotional stress also have been reported to cause an increase in blistering. Interestingly, some individuals with EBS-DM have reported an improvement in blistering when they have a fever. Blisters tend to decrease in number and severity for most patients as they grow older. Some people with EBS-DM even report having “grown out of it” by the time they begin grade school.
Thickening of the entire skin on the palms and soles (keratoderma) commonly occurs due to recurrent blistering. If the keratoderma is severe enough, it may cause difficulty walking and eventually lead to contractures of the toes, in which case surgical intervention (contracture release) may be required. Blisters may occur beneath the keratoderma and are very painful and difficult to drain, exacerbating problems with pain and walking. Fingernails and toenails may become thickened and dystrophic (abnormal in appearance) with recurrent blistering. Nail loss may occur. Milia (tiny superficial white cysts in the skin) may develop after blisters have healed. Blisters commonly occur in the mouth.
Affected children typically do not have poor growth, anemia, or problems with the trachea/respiratory tract, intestines/gastrointestinal tract, eyes, or genitourinary tract with the exception of chronic constipation and occasionally esophageal strictures. There is no increased risk of skin cancer.