A Case of Bullous Congenital Ichthyosiform Erythroderma, a Rare Pediatric Genodermatosis, in a Newborn

Case Report

Austin J Dermatolog. 2014;1(4): 1016.

A Case of Bullous Congenital Ichthyosiform Erythroderma, a Rare Pediatric Genodermatosis, in a Newborn

Millsop JW1*, Sivamani RK1, Lee DC2, Konia T1,3, Subramanian N2 and Fung MA1,3

1Department of Dermatology, University of California, USA

2Department of Pediatrics, University of California, USA

3Department of Pathology, University of California, USA

*Corresponding author: Millsop JM, Department of Dermatology, University of California, Davis, 3301 C Street, Suite 1400, Sacramento, CA 95816, USA

Received: July 10, 2014; Accepted: August 08, 2014; Published: August 13, 2014


Bullous congenital ichthyosiform erythroderma is a rare autosomal dominant genodermatosis that typically presents in newborn infants. Mutations primarily of keratin 1 or keratin 10 causes, defective keratinization, leading to skin fragility, blistering, and hyperkeratosis. This condition can be difficult to distinguish from other exfoliative and bullous conditions, including staphylococcal scalded skin syndrome. We report a case of bullous congenital ichthyosiform erythroderma in a 12-hour-old infant and discuss the approach to management of the disease as well as the differential diagnoses.

Keywords: Bullous congenital ichthyosiform erythroderma; Epidermolytic hyperkeratosis; Ichthyosis; Blisters; Newborn


BCIE: Bullous Congenital Ichthyosiform Erythroderma; ICU: Intensive Care Unit


Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis, is a rare autosomal dominant skin condition with a prevalence of 1 case per 200,000 to 300,000 individuals [1]. Up to 50 percent of cases can occur as sporadic mutations. BCIE is caused by mutations in keratin 1 or keratin 10, which are involved in suprabasilar keratinocyte differentiation [2- 6]. Mutations in keratin proteins lead to defective keratin formation and disruption of the keratin cytoskeleton. Furthermore, keratin mutations result in abnormal keratin filament clumping. These defects in the keratin protein network result in subsequent skin cell collapse and skin fragility. This clinically manifests as blistering, hyperkeratosis, and hyper proliferation.

Onset of BCIE typically occurs in newborns. At birth, patients present with generalized erythroderma, characterized by erythema and scaling, with or without edema over 90% of the skin [7]. Erosions, blisters, and peeling are typically present [7]. Although the blistering and erythema often improve over time, hyper keratotic scale becomes more prominent, most commonly over the neck, hands, feet, and joints. Other affected areas include the scalp and the infragluteal folds. An ichthyotic skin disorder persists throughout the lifetime of the patient.

BCIE can be difficult to distinguish from exfoliative skin diseases and bullous conditions. Herein, we present a case of BCIE in an infant, describe how the final diagnosis was obtained, and discuss management and treatment strategies for patients with BCIE.

Case Presentation

A 12-hour-old infant female presented with multiple erosions to the inpatient neonatal intensive care unit (NICU) at the University of California, Davis Medical Center after transferring from an outside facility. She was born by caesarean section at 36 weeks at the outside facility and was reported to be feeding well prior to her transfer. Blisters and erosions were noted at birth, at which point, the patient was transferred and she had been empirically started on vancomycin and gentamicin. There was no known history of bullous or ichthyosiform disease in her immediate family including two siblings; the extended family history was uncertain. Physical exam revealed an afebrile newborn with superficial erosions over the entire body, especially on the lower extremities and the groin (Figure 1). She had multiple bullae the left palm (Figures 2). These bullae and erosions were notably present on sites exposed to more friction such as the buttocks, thighs, posterior calves, palms, and soles. She was erythroderma with a fine white scale over the entire body. Her blood and wound cultures from the erosions were negative. Her blood chemistry and blood cell counts were within normal limits.