Poikiloderma with neutropenia

Poikiloderma with neutropenia (PN), also known as Clericuzio-type poikiloderma with neutropenia or dyskeratosis congenita-like syndrome, is a rare autosomal recessive genodermatosis caused by biallelic mutations in the USB1 (formerly known as C16orf57) gene. This gene encodes a protein involved in U6 small nuclear RNA processing, which is essential for proper RNA splicing. The disease primarily affects the skin, immune system, and skeletal system. The hallmark feature is poikiloderma — a combination of skin atrophy, abnormal pigmentation (both hyper- and hypopigmentation), and telangiectasia (small dilated blood vessels) — which typically appears in infancy or early childhood, often beginning on the limbs and later spreading to the face and trunk. Chronic neutropenia (low levels of neutrophils, a type of white blood cell) is a defining feature and leads to recurrent and sometimes severe bacterial infections, particularly of the skin, respiratory tract, and ears. Patients may also develop nail dystrophy, palmoplantar hyperkeratosis (thickened skin on palms and soles), short stature, and skeletal abnormalities. Some patients are at increased risk for myelodysplastic syndrome (MDS) and certain cancers, particularly squamous cell carcinoma. There is no cure for poikiloderma with neutropenia. Management is supportive and multidisciplinary, focusing on infection prevention and treatment with antibiotics, granulocyte colony-stimulating factor (G-CSF) to boost neutrophil counts, dermatologic care, and regular surveillance for malignancies and hematologic complications. Genetic counseling is recommended for affected families. The condition was initially described in Navajo populations but has since been identified in diverse ethnic groups worldwide.

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