Poikiloderma With Neutropenia due to Novel USB1 Mutation

Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder characterized by skin abnormalities, chronic neutropenia, and an increased risk of infections and malignancies. Patients typically present with poikiloderma, which includes hypopigmented and hyperpigmented macules, telangiectasia, atrophy, as well as nail thickening and palmoplantar hyperkeratosis. The condition is caused by pathogenic variants in the USB1 gene, which affects neutrophil function and immune response. Endocrine involvement, such as hypogonadism, may also occur. We present a 17-year-old male with a novel USB1 gene mutation (c.368T>C [p.Leu123Pro]), who exhibited typical dermatological features, including poikiloderma, nail thickening, and calcinosis cutis, in addition to hypogonadism. This case highlights the broad clinical spectrum of PN and the need for comprehensive care and surveillance.