| H00793 | |
| H number | H00793 |
| 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 |
| Network | - |
| Gene | USB1 [HSA:79650] [KO:K23093] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Dyskeratosis congenita (H00507) and Rothmund-Thomson syndrome (H00296) display clinical overlap with this disease. |
| Other DBs | ICD-11: EC10 ICD-10: L81.6 MeSH: C565820 OMIM: 604173 |
| Reference | PMID:21967010 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 PMID:20618321 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 PMID:20817924 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 PMID:15558713 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 |