Poikiloderma with neutropenia

Definition:

Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections and chronic neutropenia. It has been reported mutations in USB1 cause this condition.

References:

[1]. A W Arnold, et al. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol. 2010 Oct;163(4):866-9. [Content Brief]

[2]. Amanda J Walne, et al. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. [Content Brief]

[3]. Johan L K Van Hove, et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A. 2005 Jan 15;132A(2):152-8. [Content Brief]

[4]. Rattanavalai Chantorn, et al. Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. Pediatr Dermatol. 2012 Jul-Aug;29(4):463-72. [Content Brief]

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