对称性药物相关性间擦部及屈侧疹一例

48岁男性患者,左腋窝红斑、丘疹伴瘙痒3周.皮肤科情况:双侧腋窝、腹股沟可见对称性分布的粟粒至黄豆粒大小的红斑、丘疹,部分皮损表面可见黄褐色厚腻性鳞屑及浅溃疡,并拢双腿后皮损呈V形分布.肛周可见呈环形分布的米粒至绿豆粒大小的红色丘疹,部分丘疹表面可见黄褐色结痂.皮损组织病理示:角质层可见结痂、角化不全及角化过度,棘层灶...     

眉部瘢痕性红斑一例

患者男,12岁,眉、颊部红斑、毛囊性丘疹7年。以眉部红斑、毛囊性丘疹起病,渐蔓延至颊部、前额,后逐渐出现眉毛脱落,无瘙痒等不适。体检：眉部、前额、颊部暗红色斑片,边界尚清,其上有针头至米粒大小毛囊性丘疹,表面光滑,质稍硬,眉毛大部分脱落。皮损组织病理检查：毛囊口扩大,毛囊角栓,真皮浅层胶原纤维增粗、硬化,血管、毛囊周围少量淋巴组织细胞浸润。根据临床表现及皮肤组织病理,诊断为眉部瘢痕性红斑。治疗：口服维生素A 2.5万U每日1次,维生素E 100 mg每日1次,外用维生素E乳膏每日2次,0.025%维A酸软膏每晚1次。治疗2周后皮损改善。     

治愈糖尿病合并深在型须癣1例

患者男,59岁。3月前发现右面颊出现一贰分币大小的红斑,表面有簇集性小丘疹,自觉痒,皮疹渐向周围呈环状扩展。1月前皮疹累及胡须,在上唇及下颏胡须部出现小丘疹、脓疱,渐形成结节及斑块。曾行抗生素治疗未见好转,来我院以须癣、体癣收入院。入院前无明显多饮、多食及体重减轻。有狗接触史。入院后系统检查未见异常。皮肤科情况:面部尤其眉、须部可见大片红斑,界清,其上有多数小米粒至高粱粒大小丘疹,红斑边缘有鳞屑,双眉外侧及须部有红色毛囊性丘疹、炎性结节及脓肿,部分结节融合成斑块。患处胡须易拔出,部分胡须已脱落,拔出毛发可见脓样白…     

前额纤维化性脱发二例

例1女,44岁,额颞部发际线后移4年,面部多发性肤色小丘疹2年.皮肤科检查:额颞部发际线后移,局部皮肤光滑菲薄,可见残存的细小毛发;眉毛、腋毛和阴毛部分脱落;额颞部、双下颌角处可见弥漫性分布许多粟粒大小的肤色小丘疹.皮肤镜下可见毛囊开口数减少,毛发直径不一,瘢痕性白斑和毛囊周围红斑.例2女,55岁,额颞部毛发稀少2年.皮肤科检查:双侧额颞部发际线后移,眉毛、腋毛和阴毛部分脱落.2例患者的组织病理检查均可见毛囊周围以淋巴细胞为主的浸润,基底细胞液化变性,毛囊周围有板层状纤维化.2例患者的临床和组织病理表现均符合前额纤维化性脱发的诊断.     

误诊为Hailey-Hailey病的毛囊角化病

报告1例误诊为Hailey-Hailey病的毛囊角化病。患者女，31岁。乳房下红褐色丘疹19年，肛周红斑、糜烂4年。曾于外院多次诊断为湿疹、Hailey-Hailey病，因病情反复，近期有加重，遂至该院就诊。皮肤科检查：双侧乳房下多发红褐色丘疹，部分融合成斑块，肛周暗红色肥厚性斑块，伴皲裂，局部轻度糜烂。皮损组织病理检查：表皮部分糜烂，疣状增生，基底层上可见裂隙及棘层松解细胞，大量红染的角化不良细胞。基因检测：ATP2A2基因突变。结合患者基因检测结果，最终诊断为毛囊角化病。     

肘、膝部丘疹和脓疱:东方儿童皮肌炎的少见临床体征

该文报道 2例越南儿童皮肌炎患者 ,他们在出现肌无力和典型皮损之前相当一段时间 ,肘、膝部出现少见的毛囊性丘疹和小脓疱。例 1　患儿男性 ,7岁 ,两年前双肘突然出现群集性覆细薄鳞屑的红斑丘疹 ,膝部也有对称的毛囊角化过度性损害。在皮损持续的 3个月期间 ,曾有过诸如青少年局限性毛发红糠疹、毛囊性银屑病和丘疹性湿疹之类的诊断。两年后 ,因肌无力 4个月复诊。患儿难以从跪姿站起 ,爬楼梯也困难 ,总感觉疲乏和缺乏食欲。体格检查 :近端肌肉明显消瘦 ,典型的眶周紫色斑 ,手背鲜红色Ｇｏｔｔｒｏｎ丘疹 ,甲周毛细血管扩张。实验室检查 :…     

棘状秃发性毛发角化病

报告1例棘状秃发性毛发角化病.患者男,22岁.因头皮弥漫性毛囊角化性丘疹伴脱发10余年就诊.皮肤科检查:头皮弥漫性瘢痕性脱发和毛囊角化性丘疹,并可见散在分布细小和稀疏的头发.组织病理检查可见表皮毛囊角化过度和轻度的毛囊周围纤维化,毛囊和血管周围有少量慢性炎性细胞浸润.结合临床和组织病理检查,符合棘状秃发性毛发角化病的诊断.临床上,该病需与棘状秃发性毛囊炎、毛囊性鱼鳞病伴脱发和畏光综合征(IFAP)、角膜炎-鱼鳞病-耳聋综合征(KID综合征)和无萎缩脱毛性毛发角化病等病鉴别.     

新发MBTPS2基因突变致毛囊性鱼鳞病、秃发、畏光综合征一例

【摘要】 本文首次报道1例MBTPS2基因c.1165C>T突变致毛囊性鱼鳞病、秃发、畏光综合征。先证者主要临床表现为皮肤干燥、先天性无头发、毛囊角化性丘疹、畏光,伴癫痫,智力、运动发育落后。应用二代测序及一代测序验证显示,先证者和其母亲在MBTPS2基因第9外显子区域存在c.1165C>T（p.pro389Ser）突变。根据患儿临床表现和MBTPS2基因突变遗传学特点,确诊为毛囊性鱼鳞病、秃发、畏光综合征。     

小棘状毛壅病

报告2例小棘状毛壅病.2例患儿均为男性,因头部毛囊性丘疹及脱发就诊.皮肤科检查发现特征性皮损为毛囊性丘疹中央可见一黑色角栓,剥出角栓可见其内含有毳毛.组织病理检查示毛囊口角化过度,角化物质堆积,其内可见数个毛发横断面.根据临床表现和组织病理学检查结果诊断为小棘状毛壅病.     

单发于肛周的家族性慢性良性天疱疮1例

家族性慢性良性天疱疮又名Hailey-Hailey病,是不规则显性基因遗传性疾病,临床少见。现将所见１例单发于肛周的家族性慢性良性天疱疮报告如下。1 临床资料 患者女,３０岁,肛周红斑、丘疹伴瘙痒３年。３年前,无明显诱因肛周出现红斑、丘疹,伴瘙痒,搔抓后渗出明显,反复发作,局部皮肤渐增厚.曾多次到各地医院就诊,以“湿疹、乳房外paget病、鲍温样丘疹病、汗管瘤、尖锐湿疣”等病给予相应治疗,未见明显效果。无家族发病史,否认婚外性生活史。体检:系统检查未见异常。皮肤科情况：肛周红斑,表面有灰褐色、灰白色褶皱或角化性丘疹,…     

伴斑点状色素沉着的单纯性大疱性表皮松解症1例

患者女,20岁,出生后3 d头部及双侧手、足反复出现水疱及大疱,伴液性渗出,水疱愈合后未出现瘢痕。现全身泛发斑点状色素沉着及色素减退斑,双足及双手掌侧多发点状角化性丘疹。通过基因二代测序发现患者KRT5基因存在杂合突变位点:KRT5 c.74C>T,p.P25L。确诊为伴斑点状色素沉着的单纯性大疱性表皮松解症。     

雄秃样纤维性秃发一例

【摘要】 报道1例雄秃样纤维性秃发（FAPD）及其临床病理、皮肤镜和TrichoScan特征,以提高对FAPD的认识。患者男,23岁,前额及头顶部进行性脱发10年,伴局部头发变细、软,偶有头皮瘙痒。皮肤科检查：前额至头顶部头发弥漫性稀疏,前额发际线后移,局部发质细软,脱发区可见部分毛囊角化性丘疹、毛囊周围红斑,未见明显鳞屑。TrichoScan检查：毛发密度明显降低,毳毛比例增加。皮肤镜检查：部分毛囊开口消失,融合性白点征。头皮组织病理检查：毛囊漏斗部、峡部淋巴细胞苔藓样浸润,毛囊周围同心层状纤维化,毛囊结构破坏,毛囊性微瘢痕形成,残留毛囊直径变异度明显增加,可见部分毳毛。诊断：FAPD。FAPD临床易误诊为雄激素性秃发,需及早诊断并治疗。     

Frontal fibrosing alopecia: clinical presentations and prognosis

Background  Frontal fibrosing alopecia is an uncommon condition characterized by progressive frontotemporal recession due to inflammatory destruction of hair follicles. Little is known about the natural history of this disease.
Objectives  To determine the clinical features and natural history of frontal fibrosing alopecia.
Methods  We studied the cases notes of patients diagnosed with frontal fibrosing alopecia from 1993 to 2008 at the Royal Hallamshire Hospital, Sheffield.
Results  There were 18 patients aged between 34 and 71 years. Three were premenopausal. All had frontotemporal recession with scarring. This was associated with partial or complete loss of eyebrows in 15 patients while four had hair loss at other sites. One had keratosis pilaris-like papules on the face, and one had follicular erythema on the cheeks. Three patients had oral lichen planus, of whom two also had cutaneous lichen planus affecting other sites of the body. Treatments given included intralesional triamcinolone acetonide, 0·1% tacrolimus ointment and oral hydroxychloroquine. Progression of frontotemporal recession was seen in some patients, but not all. In one patient the hair line receded by 30 mm over 72 months, whereas in another patient there was no positional change in the hair line after 15 years.
Conclusions  Frontal fibrosing alopecia is more common in postmenopausal women, but it can occur in younger women. It may be associated with mucocutaneous lichen planus. Recession of the hair line may progress inexorably over many years but this is not inevitable. It is not clear whether or not treatment alters the natural history of the disease – the disease stabilized with time in most of the patients with or without continuing treatment.     

Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression

Monilethrix is a rare autosomal dominant disease characterized by hair fragility and hyperkeratotic papules. Mutations in type-II hair specific keratins hHb6 and hHb1 have recently been reported. We describe a large family with a E410D mutation in the evolutionary conserved helix termination motif of keratin hHb6 that was variably expressed among 12 heterozygous members, and severely expressed among 3 homozygous members. These 3 patients had essentially complete lack of scalp hair since the age of 2 months with no improvement over time as well as follicular keratotic involvement extensively expressed over the scalp and large body areas. The variability seen in heterozygous patients, along with seasonal and pregnancy-related improvement suggest that other genetic or environmental factors may modify keratin gene expression. This represents the first report of a co-dominant keratin hHb6 mutation resulting in severe disease.     

A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis,Atrichia, and Photophobia Syndrome

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; thus, it mostly affects male. The disease severity varies, ranging from mild cases limited to the skin to the severe variant involving multiple extracutaneous features. A 7-year-old boy presented with scanty hair on scalp and eyebrows at birth. On physical examination, scaly patches were observed on the whole body and spiky follicular hyperkeratotic papules were observed on the face and trunk. He also suffered from severe photophobia. Histopathological examination of the scalp showed miniaturized hair follicles without perifollicular fibrosis. Genetic analysis revealed a novel mutation in the MBTPS2 gene which was a homozygous missense mutation of c.245T>C leading to an amino-acid substitution from phenylalanine to serine (p.Phe82Ser). We diagnosed this patient with IFAP syndrome. To date, 25 pathogenic MBTPS2 gene mutations have been identified. To our knowledge, c.245T>C is a novel homozygous missense mutation in the MBTPS2 gene, which has not been reported in Human Gene Mutation Database, ClinVar Database, and Leiden Open Variation Database. Previous reports suggested genotype-phenotype correlations in the MBTPS2 gene mutations. Supported by a previous notion that genotype correlates with phenotype, this novel mutation can be a predictive factor for the mild form of IFAP syndrome, restricted to the classic symptom triad.     

毛囊性扁平苔藓1例

患者男,60岁。双小腿散在分布红斑和丘疹伴瘙痒1年余。皮肤科情况:双小腿见散在分布绿豆至胡豆大淡紫红色扁平斑块和丘疹,上覆少许鳞屑,部分可见Wickham纹。皮损组织病理示:表皮显著角化过度,毛囊口扩张,毛囊角栓,毛囊漏斗部基底细胞液化变性、颗粒层增厚,其下方真皮层大量淋巴细胞和组织细胞浸润。诊断:毛囊性扁平苔藓。口服阿维A20mg,1次/d。现随访中。     

角膜炎、鱼鳞病、耳聋综合征一例

患儿女,10岁.出生后1个月头皮、口周、颈部、躯干、臀部及掌跖出现红斑,皮肤干燥粗糙,头发细软、稀疏,易折断.随着年龄增长,红斑基础上出现明显的角化过度和增厚.5岁时出现畏光、视力下降;8岁开始听力逐渐下降.体检:身高109 cm,体重19 kg.皮肤科检查:头发稀少细软,易断;头皮、口周、颈部、躯干、臀部大片棕褐色斑块、结痂;其上可见疣状增生,伴有皲裂、溢脓,有恶臭.四肢皮肤散在黑褐色角化性斑块.掌跖弥漫性角化过度.指(趾)甲增厚,浑浊变白,远端分离、变形.眼科检查:畏光,视力左眼0.5,右眼0.2;双侧球结膜充血,角膜浑浊、角膜血管增生.耳鼻喉科检查:双耳中度感音性耳聋.口腔科检查:牙釉质发育不全,牙间隙明显增宽.GJB2基因检测发现,患儿GJB2基因2号外显子c.C50T杂合突变.诊断:角膜炎、鱼鳞病、耳聋综合征.经口服阿维A治疗,症状明显缓解.     

朗格汉斯细胞组织细胞增生症1例

患儿6个月,生后2个月开始腹部,头皮,腹股沟部出现浅红色丘疹,头皮有脂溢性结痂。腹股沟、会阴区出现糜烂,局部发生溃疡。经病理及免疫组化检查证实为朗格汉斯细胞组织细胞增生症。     

Phrynoderma and acquired acrodermatitis enteropathica in breastfeeding women after bariatric surgery

Background and objectives: Women who have undergone bariatric surgery are susceptible to nutritional deficiencies in subsequent pregnancies. We highlight the importance of dermatologists in the early recognition of cutaneous signs of malnutrition occurring in this specific clinical setting. Patients and methods: We compare clinical characteristics of two young women with dermatological signs of combined post‐gestational nutritional deficiencies following Roux‐en‐Y gastric bypass surgery. Results: Patient 1 exhibited follicular papules on the extremities, perianal eczema, perlèche, alopecia, and depigmentation of hair. Patient 2 showed erythematous plaques in genitoanal and acral areas, perlèche, diffuse alopecia, and depigmentation of hair. Based on clinical and histopathological findings, decreased vitamin A (patient 1) and zinc levels (patient 2), we diagnosed phrynoderma and acquired acrodermatitis enteropathica, respectively. Comparison of the two patients revealed that both (i) were lacking follow‐up after gastric bypass surgery, (ii) developed skin lesions as primary symptoms with (iii) mixed clinical manifestations due to combined deficiencies, and (iv) experienced initial symptoms during lactation suggesting a causal relationship. Conclusions: Our observations highlight the potentially increased risk of women to develop post‐gestational dermatological manifestations of malnutrition following bariatric surgery. The awareness of dermatologists with respect to this emerging, susceptible patient group may help avert damage to mother and child.