Neonatal ichthyosis and hypotrichosis

Abstract

An infant boy was born at 36 weeks of gestation with a birthweight of 2650 g. Shortly after birth, extensive desquamation and hair alterations were noticeable. On physical examination, erythroderma, intense palmoplantar desquamation, and generalized scaling were seen (Figure 1). Hypotrichosis and high anterior hairline could be observed. Facial features were remarkable for low-set ears, birdlike facies, microcephaly, and micrognathia (Figure 2). On neurological exam, he was hypertonic, showing en-bloc movements, hyperreflexia, and flexural posturing of the limbs. He suffered from conjunctivitis and omphalitis in the first and second weeks of life. Blood tests showed anemia and neutropenia. Scanning electron microscopy (Figure 3) and polarized light (Figure 4) microscopy examination of the hair were performed.