poikiloderma with neutropenia

A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.

Signs and symptoms

• Nasolacrimal duct obstruction
• Poikiloderma
• Carious teeth
• Recurrent bronchopulmonary infections
• Decreased total leukocyte count
• Skin rash
• Plantar hyperkeratosis
• Palmoplantar keratoderma
• Decreased total neutrophil count
• Elevated circulating creatine kinase activity

Also known as: poikiloderma with neutropenia, Clericuzio type