色素失禁症一例并文献复习

患儿,女,2个月。因躯干及四肢皮疹2个月就诊。皮肤科检查：躯干及四肢皮肤弥漫分布网状色素沉着斑。双股内侧、手腕部见暗红色大小不一丘疹、水疱,水疱壁厚,尼氏征阴性,部分水疱结痂。皮疹呈泼溅状分布。组织病理示：表皮角化过度,棘层增厚,表皮内见多房性水疱,疱液中可见大量嗜酸性粒细胞。真皮浅层毛细血管周围可见少量淋巴细胞及嗜酸性粒细胞浸润。诊断：新生儿色素失禁症。     

嗜酸性粒细胞增多综合征一例并文献复习

患者,男,79岁。全身皮肤弥漫性潮红、脱屑,咳嗽、气短3个月。多次外周血EC均>1.5×10⁹/L,皮肤活检示海绵水肿性浅层血管周围炎,浸润细胞为嗜酸粒细胞、淋巴细胞。支气管镜活检示支气管黏膜及肺泡间隔内可见少量嗜酸粒细胞浸润。结合临床表现、实验室检查及组织病理改变可明确诊断为嗜酸性粒细胞增多综合征伴皮肤和肺部受累。给予泼尼松75 mg/d,病情逐渐好转。     

变形综合征

报告1例变形综合征.患者男,42岁,具有偏侧肥大、巨趾、脊柱侧凸、线状表皮痣、淋巴管瘤等变形综合征的表现.文中对该病进行文献回顾性总结及对最新诊断标准进行讨论.     

Netherton syndrome: a case report and review of the literature

Netherton syndrome is a rare disorder inherited in an autosomal recessive pattern consisting of ichthyosiform dermatosis, hair shaft abnormalities (trichorrhexis invaginata), and an atopic diathesis. Patients with Netherton syndrome have been found to have a mutation on chromosome 5q32 in a gene named SPINK5 (serine protease inhibitor, Kazal type-5), which encodes an inhibitor of serine proteases called LEKTI. We report a female patient with previously undiagnosed Netherton syndrome who presented to participate in a clinical research trial investigating the benefit of topical tacrolimus 0.03% ointment [Protopic (Fujisawa Pharmaceutical Co. Ltd., Japan)] for the treatment of atopic dermatitis. This patient was confirmed to have a gene mutation in SPINK5. Current literature suggests a relative contraindication for use of topical tacrolimus in patients with Netherton syndrome owing to concern for increased systemic absorption of the drug. Our patient was not able to tolerate topical tacrolimus owing to local irritation, and did not derive any benefit from therapy. Though rare, when evaluating patients with a possible diagnosis of atopic dermatitis, an index of suspicion for Netherton Syndrome must be maintained. History and overall clinical findings, especially in regards to examination of the hair, will aid in diagnosis.     

Muir-Torre syndrome: a case report and review of the literature

The presence of sebaceous skin tumors with visceral neoplasms is known as Muir-Torre syndrome (MTS). It is a phenotypic subset of hereditary nonpolyposis colorectal cancer and is caused by mutations in genes encoding for mismatch repair (MMR) proteins. The presence of a sebaceous gland neoplasm should raise concern for a potential diagnosis of MTS. Immunohistochemical analysis of the sebaceous skin tumors can be helpful in screening for an MMR defect and preselecting patients who are at increased risk of a visceral malignancy. We report a case of MTS and show immunohistochemical analysis of the sebaceous neoplasm. We also review the literature on MTS and the effectiveness of immunohistochemical analysis in screening patients at risk for MTS.     

Blau综合征一例

患儿女,4岁,全身皮肤弥漫性丘疹、红斑、脱屑,大关节处皮下结节伴进行性眼损害3年。患儿出生后3个月出现下肢丘疹,逐渐累及全身。一次高热后出现眼部病变,诊断为双角膜白斑,陈旧性虹膜炎,虹膜后粘连。体检：双角膜散在灰白色混浊,边界清,前房浅,虹膜斑不清,瞳孔不圆,有后粘连。全身浅表淋巴结不大。皮肤科检查：全身弥漫性丘疹、红斑、脱屑、表面粗糙,似鱼鳞病,皮肤皱纹增多,皮温较高,无汗。腕、踝、膝关节部位大小不等的包块,质软,可活动。无红肿疼痛等症状。双眼B超显示双玻璃体混浊,双玻璃体后脱离,玻璃体后界膜下渗出,眼压降低。背部、腰部及手背部皮损及腕部皮下结节活检示：表皮棘层增厚,真皮内可见大量组织细胞、泡沫细胞及多核巨细胞浸润。其余检查无明显异常。诊断：Blau 综合征。此病为常染色体显性遗传性疾病,目前无有效的治疗方法。     

Olmsted syndrome: a case report and review of literature

We report a case of an 18-month-old boy with slightly whitened fingernails and toenails since birth. At the age of 100 days, he progressively developed bilateral palmoplantar keratoderma which resulted in painful walking and disabled grasping. Perianal keratotic plaques and perioral hyperkeratotic erythema could also be observed. Both fingernails and toenails were dystrophic. Scalp hairs were sparse, but total alopecia was no present. The histopathologic changes of the biopsy from the inner side of the right foot showed nonspecific changes, which mainly showed highly hyperkeratosis and acanthosis with slight superficial perivascular inflammatory infiltration. A clinical diagnosis of Olmsted syndrome was established according to the typical feature of the lesions, which is the presence of symmetrical palmoplantar keratoderma with periorificial keratotic plaques. We review the literature and present a summary of all reported cases to date.     

Osteo-nevus of Nanta: a case report and review of the Japanese literature

We reported a 58-year-old Japanese male with osteo-nevus of Nanta on his right cheek. Histological examination revealed nests of nevus cells throughout the entire dermis. Just beneath the nevus in the lower dermis, several basophilic oval-shaped membranous structures were positive with Kossa stain. No inflammatory infiltrate or foreign-body granuloma were seen. We reviewed 28 cases of osteo-nevus of Nanta reported in the Japanese literature and discussed the pathogenesis of ossification in the lesions of nevus cell nevi.     

多重自身免疫综合征一例并文献复习

多重自身免疫综合征（multiple autoimmune syndrome, MAS）是指同一患者至少同时出现3种自身免疫性疾病,本文报道1例。患者,男, 67岁。患有IgA天疱疮、白癜风、斑秃、重症肌无力、胸腺瘤（已切除）、糖尿病,符合MAS诊断。给予长期口服泼尼松,IgA天疱疮病情得到控制。     

Generalized lentigines syndrome: a case report and literature review

报告1例泛发性雀斑样痣综合征.患者女,29岁.出生时即有泛发性雀斑样皮疹,家系3代中有7例该病患者,每代至少有1例患该病.患者心电图有轻度异常,大阴唇发育较差,左侧卵巢较右侧卵巢明显缩小,身材较矮小,智力稍差.该例患者皮疹典型,组织病理呈雀斑样痣改变,家系发病符合常染色体显性遗传模式.     

Elejalde syndrome: report of a case and review of the literature

Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6-year-old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak-Higashi syndromes.     

Wells' syndrome: report of a case and review of the literature

A 17‐year‐old woman presented with pruritic papules and plaque wheals on the upper and lower extremities, back, chest, and abdomen, which had appeared 4 months previously. Previous medical history revealed two surgical operations for ovarian cysts (the latter was 2 weeks prior to admittance to the hospital). There was family (brother) but no personal history of atopy, with no known drug allergies. A prior biopsy demonstrated urticaria. Physical examination revealed symmetric, widespread, pink‐red plaques with central clearing mostly on the buttocks, but also on the upper and lower extremities and trunk. With pressure, the lesions almost disappeared. Lymph nodes could not be palpated, and all other systems were normal ( Figs 1‐3 ).

Figure 1 Open in figure viewer PowerPoint Edematous plaques of Wells' syndrome are seen on the chest and abdomen     

Muir-Torre syndrome: case report and review of the literature

Muir-Torre syndrome (MTS), a subtype of Lynch syndrome II, presents as at least one internal malignancy associated with at least one sebaceous skin tumor. This autosomal-dominant genetic disorder is thought to arise from microsatellite instability. Although not all patients with sebaceous tumors have MTS, even a single biopsy-proven sebaceous adenoma may warrant evaluation for MTS. We report the case of a 76-year-old man with a marked family history of colon cancer; a personal history of colon cancer status post-partial resection of the colon; and multiple cutaneous neoplasms including sebaceous adenomas, sebaceous gland hyperplasia, and basal and squamous cell carcinomas. We review the literature describing MTS and highlight the important role of dermatologists and dermatopathologists in the potential early detection and initial diagnosis of this familial or hereditary colon cancer in patients presenting with cutaneous sebaceous adenomas. Correct diagnosis may be lifesaving in patients with MTS and their at-risk relatives who would benefit from earlier colonoscopy, tumor surveillance, and potential early cancer detection. Muir-Torre syndrome represents yet another dermatologic symptom of an internal disease.     

水痘-带状疱疹病毒相关性噬血细胞综合征一例并文献复习

目的:总结水痘-带状疱疹病毒相关性噬血细胞综合征(varicella zoster virus associated hemophagocytic syndrome, VZV-HPS)的临床特点。方法:收集本院1例VZV-HPS患者的病历资料,通过检索相关的国内外文献数据库,筛选并提取17个病例进行分析。结果:18例VZV-HPS患者中男女比例3.5∶1,12例(66.7%)≤17岁。18例患者均出现皮疹和血细胞减少,17例(94.4%)发热,15例(83.3%)查见噬血细胞,13例(72.2%)ALT或Fer升高,11例(61.1%)LDH升高。治疗上主要是应用抗病毒药物、糖皮质激素、人免疫球蛋白。治疗中位周期28(5～56)天。15例患者噬血症状完全缓解,2例死亡,1例放弃治疗。结论:VZV-HPS好发于17岁以下男性,以皮疹、发热、血细胞减少、肝损害为主要表现,病情复杂凶险但治愈率高。     

Cardio-facio-cutaneous syndrome: report of a case with a review of the literature

A sporadic case of cardio-facio-cutaneous syndrome occurring in an 18-year-old girl is reported, with a brief review of pertinent literature, for its rarity and clinical interest. She had a characteristic cranio-facial appearance, a wide range of ectodermal defects, dystrophic nails and teeth, palmo-plantar keratoderma, typical short, coarse, unruly hair, pulmonic stenosis and mild mental retardation. She had no history of consanguinity and genetic studies did not reveal any abnormality.     

Neu–Laxova syndrome: a case report and review of the literature

Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby lived for 9 weeks. This case is one of the longest living cases of NLS and the fourth case reported from Turkey.     

The Russell-Silver syndrome: a case report and brief review of the literature

The Russell-Silver syndrome's phenotypic features consist of musculoskeletal abnormalities, genitourinary malformations, craniofacial dysmorphy and cutaneous dyschromia, which is usually reported as café au lait spots. We present the first instances of a large, unilateral, achromic patch as an additional cutaneous manifestation of the Russell-Silver syndrome.     

Unilateral nevoid telangiectasia syndrome: a case report and review of the literature

We report on a 43-year-old Caucasian female who presented with bright red macules in a unilateral distribution in the left C5-8 and L3-5 dermatomes. Histopathologic examination showed superficial papillary dermal telangiectasia with minimal chronic inflammation. Immunohistochemical stains for estrogen and progesterone receptors (ER/PR) were negative. A diagnosis of unilateral nevoid telangiectasia syndrome (UNTS) was given. UNTS is an uncommon disorder first described by Alfred Blaschko in 1899. It is comprised of telangiectasias occurring in a predominantly unilateral dermatomal distribution and often affecting the trigeminal, cervical, and upper thoracic dermatomes. It can be either congenital or acquired and has a 2:1 female:male ratio. UNTS has been reported in relation to hyperestrogenic states, with half of the reported cases related to pregnancy, puberty, or liver disease. However, the vast majority of cases show no increase in estrogen and progesterone receptors in lesional skin. UNTS may be more common than previously believed, and shows some response to vascular laser therapy. Differential diagnoses include hemangioma, angioma serpiginosum, and rarely, nevus flammeus.