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

• Published in: Pediatric dermatology Vol. 18; no. 3; pp. 217 - 222
• Main Authors: Parsapour, Kourosh, Reep, Michael D., Mohammed, Layla, Church, Annamaria, Shwayder, Tor
• Format: Journal Article
• Language: English
• Published: Boston, MA, USA Blackwell Science Inc 01.05.2001; Blackwell
• 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; Bullous dermatosis; Human; Case study; Skin disease; Association; Newborn; Malformation; Junctional epidermolysis bullosa; Nail disease; Anonychia; Genetic disease
• ISSN: 0736-8046; 1525-1470
• DOI: 10.1046/j.1525-1470.2001.018003217.x

: 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.