Poikiloderma with neutropenia is an autosomal recessive genetic disorder characterized by poikiloderma and chronic, noncyclic neutropenia. It is often associated with recurrent respiratory tract infections, typically occurring in the first two years of life. Since 2010, mutations in the USB1 gene (C16orf57) have been identified as the cause of this disease. The study aims to raise awareness of this rare condition and promote early diagnosis to prevent complications.
This study reports seven cases, the first four of which were diagnosed in Morocco. All patients presented with poikiloderma, palmoplantar keratoderma, pachyonychia, and neutropenia, accompanied by recurrent infections. Homozygous mutations in the USB1 gene were found in six of the cases, while the investigation of the last case is still ongoing.
Although rare, poikiloderma with neutropenia is an important condition to consider in the differential diagnosis, despite the challenges in recognizing it. Early diagnosis is crucial for ensuring proper follow-up and preventing complications.
