KEGG DISEASE: Poikiloderma with neutropenia

KEGG

DISEASE: Poikiloderma with neutropenia

Entry

H00793                      Disease

Name

Poikiloderma with neutropenia

Description

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.

Category

Skin disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetic syndromes affecting the skin
    EC10  Genetic syndromes with poikiloderma
     H00793  Poikiloderma with neutropenia

Gene

USB1 [HSA:79650] [KO:K23093]

Comment

Dyskeratosis congenita (H00507) and Rothmund-Thomson syndrome (H00296) display clinical overlap with this disease.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Chantorn R, Shwayder T

Title

Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.

Journal

Pediatr Dermatol 29:463-72 (2012)
DOI:10.1111/j.1525-1470.2011.01513.x

Reference

Authors

Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C

Title

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.

Journal

Br J Dermatol 163:866-9 (2010)
DOI:10.1111/j.1365-2133.2010.09929.x

Reference

Authors

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I

Title

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Journal

Hum Mol Genet 19:4453-61 (2010)
DOI:10.1093/hmg/ddq371

Reference

Authors

Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M

Title

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.

Journal

Am J Med Genet A 132A:152-8 (2005)
DOI:10.1002/ajmg.a.30430

LinkDB

» Japanese version

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