| H00793 | |
| H番号 | H00793 |
| 名称 | 好中球減少を伴う多形皮膚萎縮症 |
| 概要 | 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. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | USB1 [HSA:79650] [KO:K23093] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Dyskeratosis congenita (H00507) and Rothmund-Thomson syndrome (H00296) display clinical overlap with this disease. |
| リンク | ICD-11: EC10 ICD-10: L81.6 MeSH: C565820 OMIM: 604173 |
| 文献 | PMID:21967010 著者 Chantorn R, Shwayder T タイトル Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. 雑誌 Pediatr Dermatol 29:463-72 (2012) DOI:10.1111/j.1525-1470.2011.01513.x PMID:20618321 著者 Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C タイトル Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. 雑誌 Br J Dermatol 163:866-9 (2010) DOI:10.1111/j.1365-2133.2010.09929.x PMID:20817924 著者 Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I タイトル Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. 雑誌 Hum Mol Genet 19:4453-61 (2010) DOI:10.1093/hmg/ddq371 PMID:15558713 著者 Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M タイトル Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. 雑誌 Am J Med Genet A 132A:152-8 (2005) DOI:10.1002/ajmg.a.30430 |