| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (31.0%) |
7810964 |
Release of acquired syndactylies in Kindler syndrome. Szczerba SM, Yokoo KM, Bauer BS. Ann Plast Surg. 1994;33(4):434-8. |
| 多形皮膚萎縮症 (ポイキロデルマ) 合指趾症 | ||
| ヒト 合指症 方法 水疱症 男 症候群 | ||
| 2 (28.5%) |
17034542 |
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, Mayosi BM, Bateman ED. Br J Dermatol. 2006;155(5):1057-61. |
| 多形皮膚萎縮症 (ポイキロデルマ) 足関節の異常 | ||
| rs587777236 | ||
| ヒト 中年 女 成人 拘縮 肺線維症 顔面皮膚疾患 | ||
| 3 (4.0%) |
9394379 |
Kindler syndrome: a rare cause of desquamative lesions of the gingiva. Ricketts DN, Morgan CL, McGregor JM, Morgan PR. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997;84(5):488-91. |
| 多形皮膚萎縮症 (ポイキロデルマ) | ||
| ヒト 光線過敏症 口腔衛生 女 成人 歯周病 歯槽骨喪失 歯肉疾患 水疱症 男 症候群 皮膚 紅斑 | ||
| 3 (4.0%) |
2664740 |
Kindler syndrome: report of two cases and review of the literature. Forman AB, Prendiville JS, Esterly NB, Hebert AA, Duvic M, Horiguchi Y, Fine JD. Pediatr Dermatol. 1989;6(2):91-101. |
| 多形皮膚萎縮症 (ポイキロデルマ) | ||
| Age Factors ヒト 光線過敏症 女 子供 子供（未就学） 男 疱疹 皮膚 粘膜 組織診 蛍光抗体法 鑑別診断 電子顕微鏡 | ||
| 3 (4.0%) |
1241699 |
[Hereditary acrokeratotic poikiloderma]. Pons S, Billene RN, Ortiz A. Med Cutan Ibero Lat Am. 1975;3(6):415-22. |
| 湿疹性皮膚炎 | ||
| ヒト 女 皮膚 | ||
| 3 (4.0%) |
150259 |
Congenital poikiloderma with features of hereditary acrokeratotic poikiloderma. Draznin MB, Esterly NB, Fretzin DF. Arch Dermatol. 1978;114(8):1207-10. |
| 多形皮膚萎縮症 (ポイキロデルマ) | ||
| ヒト 掌蹠角化症 男 色素性乾皮症 鑑別診断 |
合計: 47
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000230 | 歯肉炎 | Very frequent (99-80%) |
| HP:0000963 | 薄い皮膚 | Very frequent (99-80%) |
| HP:0000964 | 湿疹 | Very frequent (99-80%) |
| HP:0001025 | 蕁麻疹 | Very frequent (99-80%) |
| HP:0001053 | 低色素性皮膚斑 | Very frequent (99-80%) |
| HP:0001810 | 趾爪ジストロフィー | Very frequent (99-80%) |
| HP:0006323 | 早発性乳歯喪失 | Very frequent (99-80%) |
| HP:0007400 | 不規則な高色素 | Very frequent (99-80%) |
| HP:0008064 | 魚鱗癬 | Very frequent (99-80%) |
| HP:0008066 | 異常な皮膚水泡 | Very frequent (99-80%) |
| HP:0008391 | 指爪ジストロフィー | Very frequent (99-80%) |
| HP:0008404 | 爪ジストロフィー | Very frequent (99-80%) |
| HP:0010783 | 紅斑 | Very frequent (99-80%) |
| HP:0100585 | 皮膚毛細血管拡張 | Very frequent (99-80%) |
| HP:0200034 | 丘疹 | Very frequent (99-80%) |
| HP:0200039 | 膿疱 | Very frequent (99-80%) |
| HP:0000160 | 狭い口 | Frequent (79-30%) |
| HP:0000164 | 歯の異常 | Frequent (79-30%) |
| HP:0000217 | 口内乾燥症 | Frequent (79-30%) |
| HP:0000225 | 歯肉出血 | Frequent (79-30%) |
| HP:0000262 | 塔状頭 | Frequent (79-30%) |
| HP:0000929 | 頭蓋骨の異常 | Frequent (79-30%) |
| HP:0000972 | 掌蹠過角化症 | Frequent (79-30%) |
| HP:0002745 | 口腔ロイコプラキア | Frequent (79-30%) |
| HP:0010296 | 舌癒着 | Frequent (79-30%) |
| HP:0100587 | 包皮異常 | Frequent (79-30%) |
| HP:0100669 | 異常な口腔粘膜色素沈着 | Frequent (79-30%) |
| HP:0200042 | 皮膚潰瘍 | Frequent (79-30%) |
| HP:0000091 | 腎尿細管異常 | Occasional (29-5%) |
| HP:0000211 | 開口障害 (牙関緊急) | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000656 | 外反(眼瞼) | Occasional (29-5%) |
| HP:0000772 | 肋骨の異常 | Occasional (29-5%) |
| HP:0000795 | 尿道異常 | Occasional (29-5%) |
| HP:0000924 | 骨格の異常 | Occasional (29-5%) |
| HP:0001096 | 角結膜炎 | Occasional (29-5%) |
| HP:0001163 | 中手骨の異常 | Occasional (29-5%) |
| HP:0002860 | 基底細胞癌 | Occasional (29-5%) |
| HP:0003272 | 寛骨の異常 | Occasional (29-5%) |
| HP:0004322 | 低身長 | Occasional (29-5%) |
| HP:0005692 | 関節過伸展 | Occasional (29-5%) |
| HP:0006101 | 合指症 | Occasional (29-5%) |
| HP:0006740 | 膀胱の移行上皮癌 | Occasional (29-5%) |
| HP:0007759 | 角膜間質混濁形成 | Occasional (29-5%) |
| HP:0010807 | 開放咬合 | Occasional (29-5%) |
| HP:0011024 | 胃腸管の異常 | Occasional (29-5%) |
| HP:0100490 | 屈指 | Occasional (29-5%) |
合計: 1
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001029 | 多形皮膚萎縮症 (ポイキロデルマ) | 2 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|