Menu Close

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

Citation

Fine, Jo-David; Johnson, Lorraine B.; Weiner, Madeline; Stein, Amy; Cash, Sarah; DeLeoz, Joy; Devries, David T.; & Suchindran, Chirayath M. (2005). Pseudosyndactyly and Musculoskeletal Contractures in Inherited Epidermolysis Bullosa: Experience of the National Epidemolysis Bullosa Registry, 1986-2002. Journal of Hand Surgery [British and European Volume], 30B(1), 14-22.

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.

URL

http://dx.doi.org/10.1016/j.jhsb.2004.07.006

Reference Type

Journal Article

Year Published

2005

Journal Title

Journal of Hand Surgery [British and European Volume]

Author(s)

Fine, Jo-David
Johnson, Lorraine B.
Weiner, Madeline
Stein, Amy
Cash, Sarah
DeLeoz, Joy
Devries, David T.
Suchindran, Chirayath M.