可变性红斑角化病1例

可变性红斑角化病是一种罕见的遗传病.我科收治1例典型病例,但无阳性家族史,现报告如下.患者男,22岁.因全身起红斑、脱屑伴瘙痒20年余,于2009年4月7日来我科门诊就诊.患者3个月大时于双上肢出现红斑,上覆少许鳞屑,伴明显瘙痒,于当地各医院就诊,给予治疗后(具体药物不详)无明显好转,并蔓延至四肢、面部,逐渐加重.     

可变性红斑角化病1例

1 病历摘要患者男,20 岁.因面部、四肢红斑伴瘙痒20 年于2011 年3月31 日至我院就诊.患者自出生后半年起,面部、四肢出现片状红斑脱屑,并逐渐扩大,部分红斑可在几天内自行消退,皮损形态、大小随季节发生变化,多在冬季加重,夏季可完全缓解.自觉中学时皮损最为严重,后随年龄的增长有所改善.一直按湿疹治疗,外用各种药物(具体不详)治疗效果不佳.父母非近亲结婚,患者系足月顺产,家族中无类似疾病.     

可变性红斑角化病1例

患者男,2岁。面部及腋下红斑1.5年。皮肤科情况:面部、颈部、双腋下及躯干部淡褐色角化过度性斑片,双手足角化过度,轻度脱屑。皮损组织病理示:表皮角化过度,棘层轻度肥厚,真皮浅层毛细血管周围少量以淋巴细胞为主的细胞浸润。诊断:可变性红斑角化症。     

阿维A治疗变异性红斑角化病一例

我们采用阿维A胶囊治疗变异性红斑角化病1例，取得很好的疗效。报道如下。 临床资料：患者女，27岁，因全身皮肤反复出现地图状角化过度性红斑26年，于2005年3月到我科就诊。患者于出生后10个月时，先于双胭窝摩擦部位出现绿豆大小红斑，渐波及臀部、会阴，其后躯干、四肢、面部也受累，无明显自觉症状，随着患者成长，皮损反复发作，天气炎热及情绪波动如紧张、焦虑、工作压力过大时病情均会加重，严重影响患者的心理和正常生活，曾在外院按银屑病治疗（具体不详），无明显疗效。患者否认有家族史。体检：各系统检查未见明显异常。     

可变性红斑角化症1例

患者女,24岁。四肢臀部斑片23年。查体:四肢及臀部可见边界清楚的棕红色角化过度性斑片,双手、足角化过度,轻度脱屑。皮损组织病理示:表皮角化过度,棘层肥厚,真皮非特异性炎症细胞浸润。诊断:可变性红斑角化症。     

阿维A酸治疗毛囊角化病2例

毛囊角化病是一种临床上较少见的皮肤病。我科曾于2002年用阿维A酸（商品名：新体卡松，上海罗氏制药有限公司）治疗2例毛囊角化病患者，并取得了满意疗效，现报告如下。     

可变性红斑角化症1例

患者男,39岁,出生1月后躯干部及四肢出现风团样红斑,后双膝、手足及臀部相继出现角化性斑块,天冷时皮损加重,无明显痒痛感。皮肤组织病理:表皮角化过度,轻度棘层增厚,真皮乳头层血管周围见稀疏单一核细胞浸润。诊断:可变性红斑角化症。     

可变性红斑角化症1例

患者男,39岁,出生1月后躯下部及四肢出现风团样红斑,后双膝、手足及臀部相继出现角化性斑块,天冷时皮损加重,无明显痒痛感。皮肤组织病理：表皮角化过度,轻度棘层增厚,真皮乳头层血管周围见稀疏单一核细胞浸润。诊断：可变性红斑角化症。     

可变性红斑角化症1例

患者女,13岁。全身出现红斑、无痛痒10年。皮损组织病理示表皮角化过度,颗粒层增生,棘层肥厚,皮突延长,真皮浅层血管、附属器周围散在淋巴细胞浸润,呈非特异性炎症改变。诊断:可变性红斑角化症。     

可变性红斑角化症1例

患者女,38岁,因下肢游走性角化性红斑20年,于2004年2月至我科就诊,患者20年前首先在左大腿仲侧出现红斑,偶痒,后皮疹逐渐增大,增厚,脱屑,由圆形变为不规则形,渐向下发展累及膝关节,夏重冬轻;2个月后,右小腿中段伸侧出现类似皮疹,逐渐增大,斑块由圆形变为不规则形,数年内部分皮疹消退,部分皮疹向下蔓延至踝关节背面,掌跖部皮肤干燥,粗糙,     

Haim Munk syndrome: report of two siblings of northern India treated with acitretin

Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed up over a period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis.     

抗生素联合阿维A治疗脓皮病一例

患者为23岁男性,右足背增生浸润性斑块2年余,组织病理检查示:假上皮瘤样增生和真皮混合性炎症浸润,皮损部位反复分离出表皮葡萄球菌,真菌学和分枝杆菌相关检查均为阴性.根据临床特征及检查诊断为芽生菌病样脓皮病.患者对多种抗生素及冷冻治疗无效,采用小剂量阿维A联合敏感抗生素口服治疗5个月获愈.停药后随访3个月无复发.     

Nodulocystic acne and hidradenitis suppurativa treated with acitretin: a case report

Nodulocystic acne is a dermatologic disease that can result in significant damage to the skin of the face, chest, and back. Hidradenitis suppurativa is a scarring disease of the skin that causes deep cysts and abscesses on the axillae and anogenital areas. We review a case of a patient with severe nodulocystic facial acne and hidradenitis suppurativa that was treated with 2 full courses of isotretinoin. Although the patient's condition improved, some draining cysts persisted on the face and groin. Because of the inability of isotretinoin to achieve long-term remission of the patient's condition, acitretin was considered as a possible maintenance drug. The patient was almost completely improved after 5 months' therapy with acitretin, which also was effectively used for ongoing maintenance. Acitretin may be a promising treatment for severe nodulocystic acne and hidradenitis suppurativa, which require long-term suppression when isotretinoin fails to give long-term remission.     

阿维A治疗火棉胶婴儿二例

目的 探讨阿维A治疗火棉胶婴儿的临床疗效、不良反应及对婴儿生长发育的影响,评估阿维A在婴幼儿患者中应用的安全性.方法 对2例火棉胶婴儿进行治疗与观察,阿维A治疗剂量为每天0.8 mg/kg,选择身高与体质量作为婴儿生长发育的指标,每个月随访1次,共随访9～10个月.结果 经过2～4周的治疗,2例火棉胶婴儿皮损基本恢复正常,达到临床治愈,无严重不良反应发生.持续随访未见对婴儿生长发育的影响.结论 使用阿维A治疗火棉胶婴儿是一种有效的治疗选择.     

可变性红斑角化症一例

正临床资料患者,男,10岁。因"周身干燥、起红斑10年"就诊。父母诉患者自出生起,躯干、四肢、臀部即出现大片淡红色斑片,伴边缘性脱屑,渐波及全身;部分皮损形状几天内可变化,扩大、消退同时存在;部分皮损持久存在,变化不明显;自觉病情冬季较夏季重,轻度瘙痒。父母否认家族类似患者,否认近亲婚配。平素身体良好,否认系统疾病。皮肤科查体:胸腹部、背部、臀部及四肢皮肤干燥,弥漫性淡红色斑或淡褐色斑,形态奇特如地图,边缘较清,皮损轻度脱屑;双下肢、腹     

阿维A治疗泛发型连续性肢端皮炎1例

报道1例泛发型连续性肢端皮炎患者，予阿维A 30mg/d治疗3周后，全身皮损基本消退，仅双手10指仍见脓疱。随后将阿维A减20mg/d，并加用PUVA治疗2周，患者痊愈。     

可变性红斑角皮症1例

患者女，1岁。出生后3个月面颊部开始出现对称性红斑，后躯干、四肢相继出现不规则红斑及角化过度性斑片，伴有脱屑。皮损对称分布，无自觉症状。组织病理改变符合“可变性红斑角皮症”诊断。     

Sneddon-Wilkinson disease treated with etanercept: report of two cases

Sneddon–Wilkinson disease (SWD), also known as subcorneal pustular dermatosis, is a rare, chronic eruption that is often difficult to treat, particularly in patients who do not respond to or cannot tolerate dapsone. Few case reports exist of patients with SWD treated with antitumour necrosis factor-α therapy. We report two patients with SWD refractory to numerous treatments, who responded to etanercept (in combination with low-dose acitretin in one case).     

Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3

Erythrokeratodermia variabilis (EKV) is characterized by migrating red patches resembling a geographical map, and by localized or generalized hyperkeratosis with scaling of the skin. The onset is usually at birth or during infancy, and the disease persists throughout life. EKV is mainly inherited as an autosomal dominant disease, although recessive transmission has occasionally been reported. Mutations associated with EKV have been identified in the connexin (Cx) genes GJB3 (Cx31) and GJB4 (Cx30.3), however, several cases of EKV have been tested negative for mutations in these two Cx genes. Here, we report our findings of the clinical, histological, and molecular examinations performed in two unrelated sporadic cases of EKV. The molecular screening involved bidirectional sequencing of the coding regions of the GJB3 and GJB4 genes and revealed the existence of a novel c.295G>A missense variant in the GJB4 gene found in homozygosity in one case. The substitution was found to result in a p.E99K change of the Cx30.3 protein, an alteration predicted to have a benign rather than a damaging effect on the protein function.