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Abstract
Epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder.1 Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT 1) or keratin 10 (KRT 10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues.
Keywords: epidermolytic ichthyosis; epidermolytic hyperkeratosis; bullous congenital; ichthyosiform erythroderma; management; family support; pathophysiology
Accepted for publication September 2015.
Epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis, although spontaneous mutations represent about half of all cases with no family history.1 EI presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder. Essentially, defective keratinization caused by mutations of keratin 1 (KRT 1) or keratin 10 (KRT 10) genes lead to skin fragility, blistering, and eventually hyperkeratosis.1 Throughout the literature, EI has many names, including bullous congenital ichthyosiform erythroderma, bullous congenital erythroderma ichthyosiformis of Brocq, bullous ichthyosiform erythroderma, and epidermolytic hyperkeratosis.1
Proper management with a multidisciplinary approach is critical for good outcomes, and it is undeniably one of the greatest challenges when dealing with EI. Reported in this case study is the hospital course of Baby G, a term infant with EI. The challenges associated with EI are addressed including pain management, nutrition management, skin care, and minimizing the risk of infections. This case study also includes discussions on the pathophysiology, complications, differential diagnosis, nursing/neonatal nurse practitioner (NNP) implications, and best approach to management of this rare skin condition in the newborn.
CASE SUMMARY
Baby G is a 20-day-old male infant born at 38 weeks gestation via cesarean section and transferred to a pediatric facility for a higher level of care on Day of Life (DOL)...