Epidermolytic Ichthyosis in a Neonate: A Case Study

A 2-week-old male infant visited for a follow-up appointment regarding dry and cracked skin – that his parents had observed since his birth. The neonate had no medical history.

Within the first few days of life, the infant developed shallow blisters shortly after experiencing minor skin trauma, such as contact with the car seat for a brief period. These blisters appeared on his knees, elbows, and ankles and resolved quickly without causing noticeable discomfort. 

Physical examination showed raw, denuded erosions on the left areola and a single tense blister on the right posterior leg. Several small erythematous macules, papules, and erosions were also noted––on the lower legs. These presented with subtle hyperkeratosis on the elbows, knees, and ankles.

Genetic testing was conducted, which confirmed epidermolytic ichthyosis – attributed to a mutation in KRT10. 

The infant's development has since been progressing normally. The parents were advised to apply topical emollients containing petrolatum on the lesions. 

After one month of this intervention, a substantial improvement in overall skin fragility and blistering could be appreciated. The baby showed increased hyperkeratosis in intertriginous areas such as the neck and axillae.

Source:Craiglow BG. InSeminars in Perinatology 2013 Feb 1 (Vol. 37, No. 1, pp. 26-31). WB Saunders.