At birth (35 + 5 gestational weeks), a female neonate exhibited epidermal detachment of approximately 80% of the body surface area (Figure a). Intensive care monitoring with adequate hydration, disinfection measures, and paraffin gauze dressings was performed. Histology of the right upper arm was consistent with keratinopathic hyperkeratosis (Figure b, HE 200 ×, → orthokeratotic hyperkeratosis, *granular cell acantholysis). Electron microscopy found aggregated keratin filaments. Human genetic testing revealed a pathogenic keratin-1 gene mutation, thereby confirming the suspicion of epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma of Brocq). The disease has an incidence of 1: 200,000–500,000 and is inherited in an autosomal recessive manner or represents a de novo mutation. Ichthyosis is a group of genetic cutaneous keratinization disorders with (non-) syndromal and (non-) congenital forms. At 6 months following birth, the skin findings had improved with greasy topical preparations, with the exception of areas under mechanical stress. In addition to hereditary epidermolysis, exfoliation in the neonatal age should prompt consideration of neonatal pemphigus, pemphigoid gestationis, and bullous ichthyosis. Genetic counseling is recommended.
Figure.
Translated from the original German by Christine Rye.
Cite htis as: Cussigh C, Westhoff J, Streit E: Epidermolysis in a neonate.
Footnotes
Conflict of interest statement:
The authors declare that no conflict of interest exists.