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Poikiloderma with neutropenia

rare

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.

Identifiers
MONDO:0011405 OMIM:604173Orphanet:221046
Causal genes
USB1
Part of
Constitutional neutropeniaHereditary poikilodermaHereditary skin disorder
Also known as
Clericuzio type poikiloderma with neutropenia · PN · poikiloderma with neutropenia Clericuzio type · poikiloderma with neutropenia, Clericuzio type

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