Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa.
We describe two siblings with late-onset junctional epidermolysis bullosa (JEB) (formerly called epidermolysis junctionalis progressiva). This is a subtype of autosomal recessive JEB characterized by late onset of the symptoms, between the ages of 5 and 8 years. The symptoms are mechanobullous lesions preferentially situated on hands and feet, nail dystrophy, loss of dermatoglyphic pattern, tooth enamel abnormalities and hyperhidrosis. In most forms of JEB a reduction or absence of a specific hemidesmosomal component can be demonstrated by means of immunohistochemical analysis. In this family, all known involved hemidesmosomal components, including uncein, recognized by the monoclonal antibody 19-DEJ-1, appeared to be normally expressed.
Stouthamer
A
A
Department of Dermatology, University Hospital Vrije Universiteit, PO Box 7057, 1007 MB Amsterdam, The Netherlands. astouthamer@hotmail.com
Nieboer
C
C
van der Waal
R I
RI
Jonkman
M F
MF
D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal / Q000276:immunology; D000941:Antigens / Q000276:immunology / Q000378:metabolism*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009679:Nuclear Family; D012867:Skin / Q000648:ultrastructure
C089136:19-DEJ-1 antigen; D000911:Antibodies, Monoclonal; D000941:Antigens