Herlitz Junctional Epidermolysis Bullosa Presenting at Birth with Anonychia: A Case Report and Review of H‐JEB

: A 15‐day‐old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. Biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. Hematoxylin and eosin staining along...

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Bibliographic Details
Published in:Pediatric dermatology 2001-05, Vol.18 (3), p.217-222
Main Authors: Parsapour, Kourosh, Reep, Michael D., Mohammed, Layla, Church, Annamaria, Shwayder, Tor
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biopsy, Needle
Bullous diseases of the skin
Dermatology
Epidermolysis Bullosa, Junctional - complications
Epidermolysis Bullosa, Junctional - diagnosis
Epidermolysis Bullosa, Junctional - pathology
Humans
Infant
Male
Medical sciences
Nails - pathology
Nails, Malformed
Skin - pathology
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Summary:: A 15‐day‐old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. Biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. Hematoxylin and eosin staining along with monoclonal antibody studies of a skin biopsy specimen revealed subepidermal bullae through the lamina lucida and a marked decrease in laminin 5. A diagnosis of junctional epidermolysis bullosa Herlitz variant was made. His course was complicated by multiple nonhealing wounds, oral pharyngeal involvement, sepsis, anemia, and poor nutrition, leading to his eventual death. This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis.
ISSN:0736-8046
1525-1470
DOI:10.1046/j.1525-1470.2001.018003217.x