Epidermolytic Ichthyosis in a Neonate

The parents of a two-week-old male reported dry and cracked skin of the neonate, noticed at birth. 

The baby had no prior medical history. Shortly after birth, he developed superficial bullae following minor skin trauma. These bullae occurred on the knees, elbows, and ankles, resolving quickly without apparent discomfort. 

Genetic testing confirmed a diagnosis of epidermolytic ichthyosis (EI) caused by a mutation in the KRT10 gene. The initial examination revealed raw erosions on the left areola and a single tense bulla on the right leg, among other skin abnormalities. 

At the one-month follow-up, topical petrolatum-based emollients significantly improved overall skin fragility and blistering.

Epidermolytic ichthyosis is part of the ichthyosis dermatoses family, characterized by abnormal cell turnover and epidermal dysfunction. It was formerly known as epidermolytic hyperkeratosis, a bullous congenital ichthyosiform erythroderma subtype. EI results from mutations in the KRT1, KRT2, and KRT10 genes, responsible for keratin intermediate filament formation. This patient exhibited a de novo mutation, as there was no family history of EI.

Diagnosing EI in neonates can be challenging, with differential diagnoses including epidermolysis bullosa and Staphylococcal scalded skin syndrome. Clinical features include diffuse erythroderma, superficial bullae, and erosions within the first week of life. As infants with EI are prone to electrolyte imbalances, sepsis, and complications, careful monitoring is essential. 

Protective measures such as gentle physical contact, moisturizing, and avoiding adhesive dressings are recommended. In childhood, treatments may include topical tretinoin, emollients, and keratolytics, with caution advised for oral retinoids due to potential adverse effects on epidermal fragility and lesion exacerbation.

Source: Pan S, Leszczynska MA, Parekh P, Hendrick SJ. The Journal of Pediatrics. 2023 Dec 1;263.