Non-herlitz junctional epidermolysis bullosa.
Non-Herlitz junctional epidermolysis bullosa (nH JEB) is characterized by generalized blisters that predominate in sites exposed to friction, trauma, or heat. Whereas infants and children with nH JEB often appear to resemble patients with other forms of EB, adults with this disorder typically display atrophic scars, hypopigmentation, or hyperpigmentation at sites of healed blisters as well as incomplete alopecia, dystrophic nails, mucous membrane involvement, and dental abnormalities. Mild (or severe) disease early in life may be characterized by the opposite phenotype in adults with nH JEB. Although nH JEB is generally less severe than Herlitz disease, fatalities (especially in neonates) are not uncommon among patients with the former diagnosis.
Yancey
Kim B
KB
Department of Dermatology, University of Texas Southwestern Medical Center in Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75390-9069, USA. kim.yancey@utsouthwestern.edu
Hintner
Helmut
H
D001768:Blister / Q000473:pathology*; D004817:Epidermis / Q000473:pathology*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D009154:Mutation