先天性厚甲症伴多发性皮角1例

患者男,18岁。甲及掌跖部皮损18年。皮损特征表现为:20甲高度增厚、掌跖部严重角化、毛囊角化,尤以肘膝部明显、乳头角化及面部多发性皮角样损害。皮肤活检示:表皮高度角化过度及灶性角化不全,真皮少量炎症细胞浸润。诊断:先天性厚甲症;多发性皮角。     

伴皮角样损害的先天性厚甲症

报告1例伴有皮角样损害的先天性厚甲症.患者男,17岁.因指、趾甲增厚伴全身出现泛发皮角样改变就诊.患者自3岁起逐渐出现20甲变黄、增厚、分离,伴发严重掌跖角化,以及多发性皮角样损害.患者角蛋白基因KRT6A、KRT6B、KRT16、KRT17以及连接蛋白基因GJB6编码区的全部外显子及其侧翼序列均未检测到致病性突变.     

先天性厚甲症

<正> 患儿女,9岁。主诉:指、趾甲增厚9年,手、足红斑和水疱6年。现病史:患儿出生后满月时指、趾甲变黄,开始为污黄色,随后变为褐黑色。甲板渐渐增厚,呈鹰爪样,质坚硬。3岁时,患儿躯干及四肢远端出现红斑,在红斑基础上出现大小不等的水疱,壁厚,不易破裂。水疱吸收或破裂     

先天性厚甲症1例

患者女,14岁。出生后2个月指(趾)甲开始增厚,随年龄增长甲增厚加重,至今已出现两次甲脱落,分别为左足的第2和第4趾。双足跖胼胝增厚很快,20 d左右就必须用刀削去,否则很快发生深在的皲裂,影响行走及穿鞋。2岁半时腹部和背部不明诱因出现米粒至蚕豆大水疱,伴剧痒,约3个月后治愈(具体治疗情况不详),至今未再复发。平时味觉较正常人迟钝,其余无异常。家族中无类似疾病患者。父母非近亲结婚,共育1子1女,其子正常。     

先天性厚甲症1例

患者女,19岁。因双手（足）指（趾）甲肥厚19年，于2007年5月25日就诊。患者出生后不久双手（足）指（趾）甲开始肥厚，逐年加重，出现远端上翘，呈黄褐色，无自觉症状。随着年龄增长双足跖摩擦后经常出现大疱，有时破溃，行走时疼痛，日久形成角化性斑块。腰背部及四肢伸侧皮肤出现干燥性丘疹，冬季加重。家族成员中无类似疾病史，父母非近亲结婚。患者智力正常，营养中等，     

先天性厚甲症1例

患者男,18岁。2岁时尢明显诱因指趾甲略增厚、发硬,随着年龄增长逐渐加重,甲颜色变成黄色至污褐色。3岁时患者掌跖出现角化．尤其是跖部受压处．约1个月左右就需将角化物用刀削去,否则易形成深在性皲裂,引起局部剧烈疼痛。平素手足多汗,但无水疱出现,夏重冬轻。10岁左右双肘和臀部出现角质性丘疹,无明显自觉症状。患者足月顺产,父母非近亲结婚．家族中无类似患者。     

先天性厚甲症2例

例1.男,14岁.因趾甲增厚13年于2008年10就诊.患儿1岁左右左侧拇趾甲板增厚,渐累及其他趾甲.8岁时肘部出现角化性丘疹,近2年双足跖出现角化性斑片.     

先天性厚甲症1例

患儿男,15岁.因自幼指(趾)甲变硬增厚,全身丘疹10 余年,于2010 年7 月6 日到我科就诊.患儿出生后2 个月即发现指(趾)甲对称性变硬、增厚呈褐色.2 岁后起每年天气炎热时,患儿自额部、颈项部起针头至绿豆大的灰白色小水疱,稍痒,继而蔓延到躯干、四肢,天气转凉后自愈.之后,双侧腰部、臀部、双膝关节伸侧逐渐起褐色角化性丘疹,部分有角栓,可自行脱落,残留褐色斑丘疹.     

一家族先天性厚甲二例

例1 先证者,男,18岁,因指、趾甲增厚变灰11年、面部小丘疹1年于2009年1月来我院诊治,患者自7岁起,指(趾)甲逐渐增厚、变灰,色浑浊.近1年来面部出现米粒大小的小丘疹.4个月前曾因面部小丘疹在我院拟"面部粟丘疹"给予"挤粟"治疗.近2个月来面部皮疹复发.     

KRT17基因c.263新生突变导致Ⅱ型先天性厚甲症

报告1例Ⅱ型先天性厚甲症.患儿女,3岁.指、趾甲增厚2年.皮肤科检查:指、趾甲由近端至远端逐渐呈楔形增厚并翘起,污褐色,不透明,表面粗糙,甲半月存在.基因检测:KRT17基因第1号外显子上存在错义突变(c.263T＞C)导致第88位氨基酸由Met变为Thr,先证者变异为新发突变.最终诊断:Ⅱ型先天性厚甲症.     

Pachyonychia congenita with candidiasis

Pachyonychia congenita in a mother and two siblings, with associated oral candidiasis, is reported. In the propositus lymphocyte stimulation by Candida and delayed hypersensitivity skin reactions to Candida were absent. All other parameters tested were within normal limits. Pachyonychia congenita is a dominantly inherited condition, first described by Jadassohn & Lewandouski in 1906, in which the most constant feature is gross thickening and discolouration of finger and toe nails. Other abnormalities may include palmar and plantar hyper-keratosis, leukoplakia of the tongue and buccal mucous membranes, hyperhidrosis, blistering of the feet and candidiasis. This latter association is described in a mother and two siblings.     

Pachyonychia congenita with laryngeal obstruction

Pachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2-year-old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstruction, which was felt to be secondary to pachyonychia congenita based on direct laryngoscopy and laryngeal biopsy. Leukokeratosis of her larynx was treated with CO(2) laser on three occasions, with improvement in her respiratory distress after each treatment. This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.     

Pachyonychia congenita tarda

Pachyonychia congenita is a distinct hereditary disorder of keratinization, in which dystrophy of all nails is associated with palmoplantar keratoderma and other hyperkeratoses. Recently a late-onset type has been reported. We report a second family with late-onset pachyonychia congenita, showing a remarkable clinical heterogeneity. Furthermore, one patient demonstrated a number of associated hyperkeratoses not previously recognized. Acitretin proved useful in the treatment of this late-onset form of pachyonychia congenita.     

Pachyonychia congenita tarda

A 42-year-old man presented with painful toenails which were overcurved transversely and onycholytic. Examination revealed that all toenails, the thumbs and index fingers were similarly affected. In addition, he had a small area of leukokeratosis in the mouth, epidermal cysts of the scrotal skin and a small area of hyperkeratosis on the ulnar borders of his hands. His characteristic nail changes began in the great toenails at the age of 20 years. After renal transplantation at age 39, the other nails changed and he developed the features described above. His sister has overcurvature of the fifth toenails. A diagnosis of pachyonychia congenita tarda was made. His case is compared with 14 other reported cases of this rare syndrome.