Poikiloderma with neutropenia
Poikiloderma with neutropenia
Definition
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
Also known as poikiloderma with neutropenia, poikiloderma with neutropenia, Clericuzio type — per MONDO