Poikiloderma with neutropenia

MONDO:0011405

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: Prurigo Nodularis, poikiloderma with neutropenia, poikiloderma with neutropenia, Clericuzio type, Clericuzio type poikiloderma with neutropenia, PN, poikiloderma with neutropenia Clericuzio type, poikiloderma with neutropenia, Clericuzio-type

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