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Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients
Author(s) -
VALAKI M.D.,
PHILLIPS R.J.,
LAKE B.D.,
HARPER J.I.
Publication year - 1995
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1995.tb02747.x
Subject(s) - junctional epidermolysis bullosa (veterinary medicine) , epidermolysis bullosa , medicine , pathological , disease , pathology , urinary system , monoclonal antibody , atresia , clinical significance , dermatology , antibody , immunology , biology , mutation , biochemistry , gene
Summary functional epidermolysis bullosa (JEB) associated with pyloric atresia (PA) is a distinct entity which is inherited as an autosomal recessive disorder. We describe five patients with this association: tour died in the neonatal period and one is still alive at 4 years of age. The cutaneous lesions in these patients are identical or similar to those in other JEB subtypes. Urinary tract involvement is part of the syndrome and presents a problem for long‐term survival. Using the monoclonal antibody GB3 we investigated skin biopsies from three of our patients and showed normal expression in all of them, unrelated to the outcome of their disease. This indicates that the GB3 monoclonal antibody is without prognostic significance in this syndrome. It is clear that JEB with PA is a distinct entity. The molecular basis as yet is unknown.