Epidermolytic Ichthyosis in a Neonate: A Case Study

A 2-week-old male infant presented for follow-up evaluation due to persistent dry and cracked skin, noted by his parents since birth. The neonate was born at term with an unremarkable prenatal and perinatal history, and had no prior medical conditions.

In the first few days of life, the infant developed shallow blisters following minor skin trauma, such as brief contact with a car seat. These blisters appeared predominantly over the knees, elbows, and ankles and resolved spontaneously without signs of pain or systemic involvement.

On physical examination, the infant had denuded erosions on the left areola and a tense blister on the posterior aspect of the right leg. Multiple erythematous macules, papules, and superficial erosions were observed on both lower extremities. Additionally, subtle hyperkeratosis was noted over friction-prone sites, including the elbows, knees, and ankles.

Genetic analysis confirmed a diagnosis of epidermolytic ichthyosis, associated with a KRT10 gene mutation.

The infant’s general development remained within normal parameters. Management included the use of topical petrolatum-based emollients applied to the affected areas. At one-month follow-up, notable clinical improvement was observed, including reduced skin fragility and decreased blistering. However, increased hyperkeratosis was evident in intertriginous areas such as the neck and axillae.

Conclusion:
This case highlights the classic early manifestations of epidermolytic ichthyosis and the importance of early diagnosis and supportive topical therapy. Recognition of trauma-induced blistering and genetic confirmation is key to guiding long-term dermatologic care.

Source:
Craiglow BG. Seminars in Perinatology. 2013;37(1):26–31.