Are You Confident of the Diagnosis? What you should be alert for in the history Inherited dystrophic epidermolysis bullosa DEB, including dominant [DDEB] and recessive [RDEB] subtypes should be considered in any patient with a history of blistering present at or shortly after the time of birth, especially if there is a family history of lifelong blistering in any family members. DDEB patients almost always have a parent with similar or identical findings, since the rate of spontaneous mutation among DDEB patients is quite low. Characteristic findings on physical examination DEB should be at the top of any differential diagnosis in those patients having marked mechanical fragility of the skin, blisters, a generalized distribution of other cutaneous findings, to include atrophic scarring, milia, nail dystrophy, and mucous membrane involvement.
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Description Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals.
In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems.
Researchers classify dystrophic epidermolysis bullosa into major types based on the inheritance pattern and features of the condition. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene. Recessive dystrophic epidermolysis bullosa severe generalized RDEB-sev gen is the classic form of the condition and is the most severe.
Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma that occurs during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.
As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth.
Additional complications of ongoing scarring can include fusion of the skin between the fingers and toes, loss of fingernails and toenails, joint deformities contractures that restrict movement, and eye inflammation leading to vision loss. Additionally, people with RDEB-sev gen have a very high risk of developing a form of skin cancer called squamous cell carcinoma in young adulthood. In these individuals, the cancer tends to be unusually aggressive and is often life-threatening.
These forms of the condition are somewhat less severe than RDEB-sev gen and are distinguished by the affected regions of the body. Blistering is often limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases.
Rare forms affect specific regions of the body, such as the shins or the abdomen. Affected people often have malformed fingernails and toenails. The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen.
Another major type of this condition is known as dominant dystrophic epidermolysis bullosa DDEB. The signs and symptoms of this condition tend to be milder than those of the recessive forms, with blistering often limited to the hands, feet, knees, and elbows.
The blisters heal with scarring, but it is less severe than in recessive forms of this condition. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.
Epidermolysis bullosa dystrophica
Estimated reading time: 39 minutes Summary Clinical characteristics. Dystrophic epidermolysis bullosa DEB is a genetic skin disorder affecting skin and nails that usually presents at birth. Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring.
Dystrophic Epidermolysis Bullosa (EB hereditaria dystrophica)
The lesions often show lichenoid features Naeyaert et al. Kuske observed it in males of 3 successive generations. Garcia-Perez and Carapeto reported 2 kindreds with pretibial epidermolysis bullosa inherited in an autosomal dominant pattern. Onset occurred between 11 and 24 years of age. One affected individual in 1 family had albopapuloid skin lesions similar to those of the Pasini form of DEB see Lee et al.