Rothmund-Thomson syndrome: a report of two patients and a review of the literature

Two siblings with poikiloderma, short stature and other abnormalities are described. They were originally reported as having Morquio syndrome; subsequently, mucopolysaccharidosis was excluded biochemically and they were classified as 'a newly recognized syndrome of connective tissue dysplasia'. It is now clear that their disorder is the Rothmund-Thomson syndrome (RTS).     

家族性高胆固醇血症伴弥漫性扁平黄瘤1例并文献复习

报告1例发生于青年男性的家族性高胆固醇血症伴弥漫性扁平黄瘤。16岁男性患者,全身泛发橙黄色斑块、结节10年。专科情况:右眼睑、颈部、双手背、双侧肘、膝关节伸侧皮肤大小不一的橙黄色斑块。皮损组织病理检查:真皮浅层血管周围少量淋巴细胞及组织细胞浸润,真皮浅中层大量泡沫细胞浸润,可见多核巨细胞。血脂检查:总胆固醇(TC)16.49mmol/L;低密度脂蛋白(LDL)12.46mmol/L。患者父母亦存在血脂异常升高情况。诊断为家族性高胆固醇血症伴弥漫性扁平黄瘤。给予降脂药物口服治疗,右上眼睑斑块因影响容貌,予以手术切除。     

无水疱性类天疱疮二例并文献复习

报道2例无水疱性类天疱疮并复习以往相关文献。例1，男，72岁，因全身皮肤红斑、丘疹伴瘙痒20天就诊，查体未见水疱。实验室检查血嗜酸性粒细胞升高，直接免疫荧光示基底膜带线状C3沉积，间接免疫荧光示抗基底膜带抗体阳性，抗BP230抗体、抗BP180抗体阳性。例2，女，79岁。因全身皮肤散在分布丘疹伴严重瘙痒20天就诊，查体见躯干四肢皮肤抓痕明显，未见水疱。血清中抗BP180抗体阳性。2例均诊断：无水疱性类天疱疮。予以小剂量糖皮质激素治疗后，控制病情，目前在随访中。     

带状疱疹后假性腹壁疝二例并文献复习

带状疱疹后假性腹壁疝是带状疱疹发生的一种罕见的与腹壁疝相似的神经系统并发症,所引起的腹壁隆起性肿物实际上是病毒引起节段性腹肌瘫痪或无力的结果,大多数可完全恢复,预后良好。本文报道2例带状疱疹后假性腹壁疝并对10年国内外文献报道病例进行分析。共分析27例患者,平均年龄68.2岁,63.0%为男性,常受累的神经是T11（31.4%）。25例腹壁假疝发生在皮肤症状之后,平均时间为23天。行肌电图检查3例,异常2例; 影像学检查15例,其中异常5例。27例中,14例(51.9%)腹壁假疝完全自然康复,平均时间为3.4个月(范围1~8个月);3例(11.1%)部分恢复,平均随访时间2.3个月。7例患者恢复时间不详,1例失访。     

毛囊黏蛋白病二例并文献复习

报道2例毛囊黏蛋白病并进行文献复习.患者1,男,44岁,颈项部局限性浸润性红斑伴疼痛2个月,组织病理示:真皮毛囊水肿,毛囊内外淋巴组织细胞浸润,个别嗜酸粒细胞.阿新蓝染色:毛囊黏蛋白阳性.患者2,男,32岁,左面部浸润性暗红斑45天,组织病理示:表皮大致正常,毛囊上皮水肿,淡蓝色黏液样物质沉积,毛囊内及毛囊周围较多嗜酸...     

Cutaneous nocardiosis: report of two cases and review of the literature

Background Cutaneous nocardiosis is an uncommon infectious disease that presents as a primary cutaneous infection or as a disseminated disease. It is often misdiagnosed because of its rarity and nonspecific clinical picture. Methods We report a case of each type. The first case is an immunocompetent patient who was infected by Nocardia while gardening and developed a superficial skin infection – one of the three clinical manifestations of primary cutaneous nocardiosis. The second case is an immunocompromised patient with pulmonary nocardiosis that extended to the skin as part of a disseminated disease. Results The immunocompetent patient with primary cutaneous nocardiosis had the classical features of a superficial skin infection. He had a nodular–pustular lesion on the right arm, which appeared 7 days after gardening with bare hands. Nocardia was identified in a skin culture taken from a pustule, unfortunately not to the species level. Treatment with minocycline for 3 months resulted in full remission of the lesion. The immunocompromised patient with disseminated nocardiosis had high fever, productive cough, hemoptysis, and erythematous nodules and pustules on the extremities. N. brasiliensis was isolated from bronchial samples and skin. Treatment with a high dose of trimethoprim and sulfamethoxazole for five months resulted in full recovery from cutaneous and pulmonary complaints. No relapse of the infection was found on follow‐up in either patient. Conclusion These cases demonstrate the need for a high degree of suspicion, focused clinical search, and appropriate laboratory procedures in the diagnosis and management of cutaneous nocardiosis.     

CREST综合征2例

目的:探讨CREST综合征的临床特点及诊治方法.方法:报告2例CREST综合征患者,2例均为女性,年龄分别为45岁和58岁,将其临床表现、实验室检查及组织病理改变的资料,结合相关文献作回顾性分析.结果:2例患者中,1例表现为双上肢皮肤变硬20余年,伴鼻根部两侧、左肩部、左臀部皮下结节及吞咽困难1年;另1例表现为面部、双手、下肢皮肤变硬,伴吞咽困难20年,部分手指萎缩、坏死伴右手背、左小趾背皮下结节5年.结合各项实验室检查结果和病史确诊为CREST综合征.结论:CREST综合征临床较为少见,对于硬皮病患者,除做组织病理、自身抗体检查外,建议仔细进行体格检查、食管钡餐造影、胸部X线片及肺功能检查,以明确诊断,同时坚持长期治疗.     

Accessory tragus: report of two cases and review of the literature

Accessory tragus is a fairly common congenital malformation of the external ear. In the vast majority of cases it is an isolated developmental defect not associated with other abnormalities. However, the remote possibility exists that it could be associated with other abnormalities of the first and second branchial arch. Accessory tragus is a consistent feature of the oculoauriculovertebral syndrome (Goldenhar syndrome). When correctly identified, surgical excision of accessory tragus is quite simple and rarely results in any complications.     

Verrucous hemangioma: report of two cases and review of the literature

Verrucous hemangiomas are usually congenital lesions which typically present as warty, bluish, vascular papules, plaques, or nodules, mainly on the lower limbs of children. They show no tendency to spontaneous resolution, and tend to spread and recur after inadequate treatments. We report two instances of verrucous hemangioma, one in an adult and one in a child, discuss the clinical, histopathologic, and therapeutic aspects of this entity, and review the literature.     

肉芽肿性蕈样肉芽肿二例并文献复习

报道2例以局部浸润性斑块为主要表现的肉芽肿性蕈样肉芽肿并复习相关文献.2例患者均表现为红斑、斑块,皮损组织病理检查见真皮内淋巴样细胞及巨细胞浸润,患者1免疫组化示CD2、CD3、CD5、CD7阳性,患者2 CD2、CD3、CD4阳性及CD68组织细胞阳性.诊断:肉芽肿性蕈样肉芽肿.患者1口服阿维A及肿块局部浅层X线照射...     

海分枝杆菌感染二例并文献复习

报道2例海分枝杆菌感染并复习相关文献.患者1,男,25岁.右侧拇指红肿破溃伴疼痛1个月.患者2,女,54岁.左侧大拇指及手背手腕红斑结节伴疼痛2个月.2例患者均有鱼扎伤病史,常规抗感染治疗无效,最终诊断为游泳池肉芽肿,给予抗分枝杆菌感染治疗3个月后痊愈.     

播散性带状疱疹二例报道并文献复习

带状疱疹（HZ）皮损通常限于单个皮区,而涉及两个或更多个皮区的非邻近HZ比较少见,我们报道2例播散性HZ患者并回顾相关文献。病例1,男,77岁。右臀部簇集性丘疹、水疱伴疼痛6天,全身皮疹2天,治疗上给予抗病毒、营养神经和对症治疗,病情得到控制,未见新发皮疹,仍有神经疼痛。病例2,女,32岁。左侧胸背部簇集性丘疹、水疱伴疼痛4天,全身皮疹伴痒1天,因患者处于哺乳期,未使用抗病毒药物,局部涂抹炉甘石洗剂,2周后自愈。     

Olmsted syndrome: report of two new cases and literature review

Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, and ultrastructural findings suggest that this disease is related to epidermal hyperproliferation. We present herein a review of the twenty cases published so far and discuss the major clinicopathological and genetic features of this disease.     

Verrucous hemangioma: a report of two cases and review of the literature

Verrucous hemangioma represents a rare congenital vascular proliferation that may be mistaken for angiokeratoma. Histopathological examination of a deep biopsy is necessary to confirm the diagnosis of verrucous hemangioma based on its involvement of the deep dermis and subcutaneous tissue. We present two cases of verrucous hemangioma and discuss the clinicopathologic and immunohistochemical findings.     

Ichthyosiform erythroderma and cardiomyopathy: report of two cases and review of the literature

We report two children with ichthyosiform erythroderma who at the ages of 9 weeks and 8 years, respectively, developed dilated cardiomyopathy, which was fatal in one and required heart transplantation in the other. A link between these conditions is considered likely, either as a primary genetic syndrome or secondary to micronutrient deficiency and/or infection. Owing to its insidious onset, cardiomyopathy may be overlooked, or symptoms attributed to the other conditions such as severe infections and failure to thrive that are common in these patients. We therefore recommend that children with congenital erythroderma are monitored closely, clinically and with echocardiography, for cardiomyopathy.     

Primary cutaneous ganglioneuroma: a report of two cases and literature review

Primary cutaneous ganglioneuroma is a rare neoplasm first described by Collins et al. in 1972. Eight cases have been reported in the English literature to date. We report two cases of solitary cutaneous ganglioneuroma, one constituting, to our knowledge, the first reported case of this entity occurring on the face. Clinically, both lesions were firm flesh-colored papules and asymptomatic, being removed primarily for cosmesis. Neither patient had any significant past medical history. Histologically, both neoplasms consisted of relatively well-circumscribed spindle cell proliferations of axons and Schwann cells with interspersed mature ganglion cells. There was also focal myxoid change. The spindle cell component stained positively for S-100 protein, and the ganglion cells stained positively for glial fibrillary acidic protein and neurofilaments by routine immunohistochemistry.