Pseudosyndactyly and Musculoskeletal Contractures in Inherited Epidermolysis Bullosa: Experience of the National Epidermolysis Bullosa Registry, 1986–2002

Abstract

Mitten deformities of the hands and feet occur in nearly every patient with the most severe subtype (Hallopeau-Siemens) of recessive dystrophic epidermolysis bullosa, and in at least 40-50% of all other recessive dystrophic epidermolysis bullosa patients. Smaller numbers of patients with dominant dystrophic, junctional, and simplex types of epidermolysis bullosa are also at risk of this complication. Surgical intervention is commonly performed to correct these deformities, but recurrence and the need for repeated surgery are common. Higher numbers of epidermolysis bullosa patients also develop musculoskeletal contractures in other anatomic sites, further impairing overall function. Lifetable analyses not only better project the cumulative risk of mitten deformities and other contractures but also emphasize the need for early surveillance and intervention, since both of these musculoskeletal complications may occur within the first year of life.

Imunomapeamento nas epidermólises bolhosas hereditárias

“…Subclassification is important in determining the risk of mucosal involvement, the development of neoplasias and premature death, and in providing genetic counseling. [10][11][12][13][14] The most commonly requested laboratory test is anatomopathology, which is performed on biopsied material that includes the entire blister. Although this test is inconclusive for a diagnosis of epidermolysis bullosa, it is useful to differentiate it from other bullous dermatoses.…”

Limited Hand Surgery in Epidermolysis Bullosa

“…In both generalized forms of EBS the blisters are located throughout the whole body. The risk of pseudosyndactyly in Dowling -Meara (EBS-DM) is estimated at 3% at or after the age of 3 (Fine et al, 2005). In the, non-Dowling-Meara (EBS-nDM), the blisters, although generalized, tend to spare the hands and feet (Fine, 2010).…”

“…Their risk by the age of 20 is estimated at 98% (Fine et al, 2005). In time, they lead the hands to contract into a cocoon.…”

“…Hand procedures may become necessary in 61% of RDEB patients. In this group, 5 or more operations are presumed to be the norm (Fine et al, 2005). It is estimated that recurrences appear, on average, every 2.4 years (1 to 5 years) (Terrill et al, 1992).…”

“…The autosomal dominant form (generalized dominant dystrophic -DDEB) is characterized by symptoms of a slightly lower intensity. The risk of pseudosyndactyly is just 3% by the age of 40 (Fine et al, 2005). The forms with autosomal recessive inheritance have a more severe course.…”