Epidermolysis bullosa hereditaria letalis. Clinical and histological manifestations and course of the disease

Junctional epidermolysis bullosa in two siblings: clinical observations, collagen studies and electron microscopy

“…In common with many of the reported JEB cases, our patients had iron deficient anaemia (Hruby & Esterly, 1973;Pearson et al, 1974). Pearson concluded that anaemia in longer surviving patients could not be explained by iron deficiency alone or blood loss but appeared to be due to bone marrow dysfunction which he presumed to be secondary to the disease itself.…”

Applicability of 19–DEJ‐l monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa

“…The results of each study are summarized in Table 2. Three of the four fetuses were shown to have intra-lamina lucida cleavage, diagnostic of junctional EB (Pearson, 1962;Pearson et al, 1974), b y both transmission EM (Figures 3b and 3c) and immunofluorescence mapping techniques (Figure 1 a), the latter utilizing antibodies to three BMZ antigens (bulloils pemphigoid antigen, laminin, type IV collagen) known to be normally expressed in junctional and dystrophic forms of EB. In addition, hypoplasia or absence of hemidesmosomes, and complete absence of sub-basal dense plates, which represent the specific ultrastructural abnormalities of junctional EB, were noted in cases 1-3, respectively (Figures 2a, 2b and 3a) (Anton-Lamprecht and Schinyder, 1979;Anton-Lamprecht, 1984;Anton-Lamprecht and Arnold, 1987;Hashimoto et al, 1976;Pearson, 1985).…”

Tracheolaryngeal Complications of Inherited Epidermolysis Bullosa: Cumulative Experience of the National Epidermolysis Bullosa Registry

“…The first documentation of laryngeal disease activity in inherited EB was reported in 1978 by Ramadass and Thangavelu, 13 although a previous publication 14 in 1974 cited “mild pneumonitis” in one JEB patient, which in retrospect most likely instead represented tracheolaryngeal involvement. In this first publication, one of the two patients, a 27 year old with a history consistent of having an autosomal recessive form of EB, was reported as having dysphonia, dysphagia, and nasal regurgitation.…”