| H00733 | |
| H番号 | H00733 |
| 名称 | 道化師様魚鱗癬 |
| 概要 | Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ABCA12 [HSA:26154] [KO:K05646] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC20.02 ICD-10: Q80.4 MeSH: C538424 OMIM: 242500 |
| 文献 | PMID:18341575 著者 Akiyama M, Shimizu H タイトル An update on molecular aspects of the non-syndromic ichthyoses. 雑誌 Exp Dermatol 17:373-82 (2008) DOI:10.1111/j.1600-0625.2007.00691.x PMID:16935789 著者 Oji V, Traupe H タイトル Ichthyoses: differential diagnosis and molecular genetics. 雑誌 Eur J Dermatol 16:349-59 (2006) PMID:16481150 著者 Akiyama M タイトル Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. 雑誌 J Dermatol Sci 42:83-9 (2006) DOI:10.1016/j.jdermsci.2006.01.003 |