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Pyloric atresia with junctional epidermolysis bullosa(PA‐JEB) syndrome: absence of detectable β4 integrin and reduced expression of epidermal linear IgA dermatosis antigen
Author(s) -
Kim Jeong Nyun,
Namgung Ran,
Kim SooChan,
Lee Min Geol,
Lee Jin Sung,
Lee Chul
Publication year - 1999
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1046/j.1365-4362.1999.00708.x
Subject(s) - junctional epidermolysis bullosa (veterinary medicine) , hemidesmosome , epidermolysis bullosa acquisita , medicine , pathology , lamina lucida , monoclonal antibody , anchoring fibrils , type iv collagen , epidermolysis bullosa , fibrin , skin biopsy , laminin , bullous pemphigoid , antibody , basement membrane , biopsy , immunology , biology , extracellular matrix , basal lamina , ultrastructure , microbiology and biotechnology
A newborn girl with pyloric atresia with junctional epidermolysis bullosa (PA‐JEB) developed vomiting and blisters after birth. Radiography revealed pyloric atresia, and a resection of atretic segment and gastroduodenostomy were carried out at 4 days after birth. Physical examination revealed multiple bullae on the trunk and extremities ( Fig. 1). Light microscopy of a skin biopsy specimen showed subepidermal bullae with few inflammatory cells. Electron microscopy showed separation in the lamina lucida and rudimentary hemidesmosomes ( Fig. 2). A direct immunofluorescence (IF) mapping study was negative for immunoglobulin G (IgG), IgA, IgM, C3, and fibrin. To determine the cleavage level, an IF mapping study was performed on 6 μm cryostat sections of a frozen skin biopsy specimen, using bullous pemphigoid (BP) antibody, monoclonal antibody against type IV collagen (Dako, Copenhagen, Denmark), monoclonal antibody (LH 7.2) against type VII collagen (Serotec, Oxford, UK), and epidermolysis bullosa acquisita (EBA) serum. The staining for BP was identified on the epidermal side. The staining for monoclonal antibody against type IV collagen, type VII collagen, and EBA was identified on the dermal side. This pattern was compatible with the diagnosis of JEB. We also performed an IF mapping study using GB3 monoclonal antibody (Sera Laboratory, Cambridge, UK), which recognizes laminin 5 monoclonal antibody against β4 integrin (Chemicon, Los Angeles, CA), and linear IgA dermatosis (LAD) antibody, which binds to the epidermal side of salt‐split skin substrate ( Fig. 3). The patient’s skin has normal laminin 5 expression, but an absence of detectable β4 integrin and reduced epidermal LAD antigen expression. Despite nutritional support with parenteral nutrition and special formula feeding, chronic diarrhea and bloody mucoid stools persisted and malnutrition was not improved. 1Photograph of the patient with pyloric atresia with junctional epidermolysis bullosa (PA‐JEB). Multiple bullae are seen on the trunk, shoulder, and areas exposed to pressure and minor trauma. The operation scar for pyloric atresia is seen on the abdomen2Electron microscopic findings: reduced number of hemidesmosomes were found at basal cells3Immunofluorescence analysis of the patient (right column) compared with normal skin (left column), A, B, GB3 Ab; C, D, β4 integrin; E, F, LAD serum. The skin of the patient has normal laminin 5 expression, but an absence of detectable β4 subunit at reduced LAD antigen expression