Goltz综合征一例

患者,女,9岁。生后即见面部、躯干和四肢有多个红褐色斑、斑片及斑块,无自觉症状。部分线状或色素性斑沿Blaschko线分布,左小腿见数个脂肪性疝,肛周见多个乳头瘤状皮损,耳廓和牙齿畸形。组织病理示：真皮胶原纤维和弹力纤维缺如。根据临床和组织病理学表现诊断为Goltz综合征。     

发育不良痣一家系

先证者男,13岁。全身散在性丘疹、结节9年,无自觉症状。皮损为直径2～7 mm的斑疹、丘疹、结节,呈褐色,以面部、上肢及躯干为主。其家族4代人中有类似患者16人。组织病理学检查符合混合痣。     

Epidermodysplasia verruciformis associated with isolated IgM deficiency

A 20 year-old man presented to our clinic with multiple warts on both hands and tumoral lesions on his face but otherwise healthy. On dermatological examination, numerous brown-black papular lesions, changing from 2 to 5 cm in diameter were found on his face along with multiple, flesh-coloured, flat-topped papules on the dorsa of his hands. A tumoral lesion, approximately 3 cm in diameter on the right side of his forehead and desquamated erythematous macules were also observed on the trunk. Laboratory investigations showed that serum immunoglobulin M (IgM) level was decreased. The histopathological examination of verrucous lesions on the hands was consistent with epidermodysplasia verruciformis and the histopathological diagnosis of the tumoral lesion was squamous cell carcinoma.     

Generalized lichen nitidus

Lichen nitidus is a rare chronic condition of unknown etiology. Generalized lichen nitidus is even rarer. We report here a 5-year-old girl who had multiple, asymptomatic, discrete, 1 to 2 mm flesh-colored, shiny, flat, papules on her face, upper limbs, and thighs with relative sparing of the trunk. Resolution of these papular lesions was followed by hyperpigmented macules in those areas. Histopathologic examination of a papular lesion revealed a localized granulomatous lymphohistiocytic infiltrate in an expanded dermal papilla with thinning of overlying epidermis and downward extension of the rete ridges at the lateral margin of the infiltrate, producing a typical "claw clutching a ball" picture, confirming our clinical diagnosis of lichen nitidus. The pigmented macules showed melanin pigmentation on histology. There was no response to oral astemizole treatment for 3 months. However, the lichen nitidus lesions resolved spontaneously without any further treatment over the next year, leaving behind a prominent pigmentary disturbance.     

发疹型扁平苔藓1例

  报告1例发疹型扁平苔藓。患者男,69岁。全身暗红斑、丘疹伴瘙痒5个月。血糖升高9年余。皮肤专科检查：头面部、躯干及四肢可见暗红斑,部分融合成片,部分苔藓样肥厚明显,伴扁平丘疹及斑块,上覆细薄鳞屑,头部皮肤脱屑明显,未见束状发。口腔颊黏膜可见Wickham纹,生殖器黏膜见白色斑疹。皮损组织病理：表皮缺损,真皮浅层见带状的淋巴组织浸润,见色素失禁。PAS染色阴性。诊断:发疹型扁平苔藓;2型糖尿病。予小剂量激素联合羟氯喹治疗1个月后,遗留色素沉着斑,无新发皮疹。     

急性髓细胞性白血病(M4型)

报告1例急性髓细胞性皮肤白血病(M4型).患者女,48岁.全身出现丘疹、红色结节14d,伴剧烈瘙痒.体格检查:全身泛发大小不等的红色丘疹、结节,质韧,无压痛.皮损组织病理检查:真皮内弥漫淋巴样细胞浸润,有明显异形及较多核分裂象.免疫组化组织病理检查:CD68阳性(灶性),MPO阳性(少量).骨髓穿刺:白血病细胞大量增生,免疫标记:CD68、CD11b、MPO及HLA-DR均阳性.诊断:急性髓细胞性白血病(M4型).患者经过2次DA(伊达比星、阿糖胞苷)方案化疗后,再次行骨髓穿刺示缓解,但皮损仍有复发.     

Association of juvenile xanthogranuloma with café-au-lait macules.

A 2-year-old boy was referred to the dermatology services for the evaluation of yellowish-brown raised lesions over the face of 3 months' duration. In addition, he had multiple asymptomatic hyperpigmented spots over the trunk, which his parents had noticed at the time of birth. His physical and mental milestones of development were normal. Apart from the cutaneous lesions, the child was otherwise well and there was no history of seizures. He was the only child born to nonconsanguineous parents. No family history of similar lesions was available. The boy weighed 14 kg, had a height of 88 cm, and a head circumference of 48 cm. General physical and systemic examination was normal. Cutaneous examination revealed multiple, yellowish-brown papules over the forehead, sides of the face, and shoulders. The papules measured 0.5-0.8 cm in diameter, were discrete, well defined, oval and flat topped without any surface changes (Fig. 1). Multiple café-au-lait macules varying from 0.5 to 3.0 cm in diameter were present over the trunk (Fig. 2). There was no freckling in the axillary or the inguinal regions and no neurofibromas were present. A diagnosis of juvenile xanthogranuloma was considered. Complete blood counts, urine analysis, hepatic and renal function tests, and serum lipid levels were normal. A skin biopsy from a papule over the shoulder revealed a dense infiltrate in the dermis underlying a normal epidermis. The infiltrate was well demarcated and comprised lymphocytes, eosinophils, and foamy histiocytes along with Touton giant cells and proliferating fibroblasts. This confirmed the diagnosis of juvenile xanthogranuloma. The parents were informed about the benign and self-limiting nature of the disorder and were advised to bring the child for regular follow-up.     

Eruptive dermatosis papulosa nigra as a possible sign of internal malignancy

A 42-year-old black woman presented with dermatosis papulosa nigra lesions of 15 years' duration. Coincident with the diagnosis of symptomatic iron-deficiency anemia about 1 year ago, she reported an "explosion" in number and size of the lesions progressing from her face to her trunk and arms. Physical examination revealed numerous 1-5-mm, black, smooth, verrucous papules predominantly on the forehead, malar region of the face, neck, and upper trunk (Figs 1 and 2). The lesions on the back were situated in a "Christmas tree" pattern and included two 1-cm papules. She had multiple 1-mm papules on the upper arms. A biopsy confirmed the diagnosis of dermatosis papulosa nigra, showing parakeratosis, acanthosis, hyperpigmentation, thick interwoven tracts of epithelial cells, and horn cysts. Given the eruptive nature of her disease, the possibility of an underlying malignancy was entertained. Six weeks later, she went to the emergency room for severe weakness; a colonoscopy revealed an ascending colon adenocarcinoma with a negative metastatic work-up.     

HPV43／66感染致疣状表皮发育不良一例

患者男,37岁。因全身多发疣状丘疹、斑片20年,外阴和腹股沟糜烂、渗出2个月就诊。皮肤科检查：全身多发、蚕豆大疣状丘疹,部分融合成片。双侧腹股沟及外阴皮损处糜烂、渗液和结痂。外周血淋巴细胞亚群分析示：CD4＋T细胞37．2％,CD8＋T细胞43．6％,CD4＋／CD8＋细胞比值0．85。斑点杂交示：HPV43和66DNA阳性。皮损组织病理：角化过度,表皮疣状增生及假上皮瘤样增生,可见部分凹空细胞,真皮浅层中度淋巴细胞浸润。诊断为疣状表皮发育不良、皮肤感染和细胞免疫功能低下。治疗给予抗感染、肌内注射免疫增强剂和口服阿维A胶囊,治疗15d后外阴和腹股沟皮损表面干燥、变平,并有大量痂屑脱落,而躯干和四肢皮损无明显变化。目前患者仍在随访中。     

先天自愈性朗格汉斯组织细胞增生症一例

患儿,女,1个月。头面部红色丘疹、结痂,逐渐增多1个月。皮肤科查体：头皮、额头、躯干、四肢散在黄豆至豌豆大红褐色至黄褐色丘疹、丘疱疹、结痂,部分皮疹少量鳞屑,不易刮除。皮损组织病理示：表皮细胞间水肿,单一核细胞移入,基底细胞液化变性,真皮浅中层较多单一核细胞浸润,细胞核大、胞浆丰富。DIF:表皮细胞间及基底膜带IgG、C3、IgM、IgA阴性。免疫组化：CD1a、S100、CD68弱阳性,Langerin+。未予治疗,随访1个月皮疹基本消退,无新发皮疹。     

Skin metastases in prostatic cancer. Immunohistologic indications of the primary tumor

Prostatic carcinoma accounts for about 1% of all cancers that metastasize to the skin. The regions most frequently involved are the genital region, the head and the trunk. Clinically the lesions present as nodules; less often diffuse infiltrates, red macules and papules or tumors of an angiomatous appearance occur. Histopathological examination of skin biopsy specimens can reveal gland-like, epithelial or anaplastic differentiation of tumor cells. Prostatic origin can be proven by the immunohistological demonstration of acid prostatic phosphatase or prostatic specific antigen in paraffin-embedded specimens taken for routine histological examination.     

特发性多发性斑状色素沉着症1例

患者男,21岁。躯干、四肢近心端褐色斑2月。皮损首先发生在腹部,无自觉症状,病程中无红斑期。查体见躯干、四肢近心端泛发性褐色斑,上无明显鳞屑。背部皮损组织病理示:表皮下部色素轻度增多,真皮乳头层散在嗜色素细胞。诊断:特发性多发性斑状色素沉着症。     

母细胞性浆细胞样树突细胞肿瘤一例

患者男,51岁,全身皮肤散在暗红色斑丘疹、结节1年余。皮损逐渐增多,初发时无明显不适,逐渐出现触痛。体检：头面、躯干、四肢可见散在分布的暗红色斑丘疹、浸润性斑块、皮下结节,边界尚清,部分有触痛,右腹股沟可触及一樱桃大小淋巴结,余浅表淋巴结未触及。骨髓穿刺结果显示,淋巴系统占32.5%,其中幼稚淋巴细胞占10%,此类细胞大小不等,形态多不规则,细胞质量中等,色蓝,核形不规则,核染色质呈颗粒状。皮损组织病理检查：真皮浅层及脂肪组织大量中等大小异型肿瘤细胞弥漫性浸润,肿瘤细胞染色质细颗粒状,稀疏,核仁不明显,核分裂相易见。免疫组化：CD4、CD56、CD43强阳性;CD68及TdT少量细胞阳性;L26、CD3、CD38、颗粒酶B、MPO均阴性。根据临床资料、实验室检查、皮肤组织病理及免疫组化结果,诊断为母细胞性浆细胞样树突细胞肿瘤。     

Abnormal nevoblast migration mimicking neurofibromatosis

A patient appeared to have von Recklinghausen type I neurofibromatosis, but her numerous cutaneous tumors were intradermal nevi and not neurofibromas. The patient had hundreds of 1- to 3-cm firm, flesh-colored, dome-shaped papules and pedunculated nodules on her buccal mucosa, eyelids, face, extremities, and trunk as well as a large, confluent, cerebriform tumor extending from the 12th thoracic vertebra to the sacrum. No cafe au lait macules, freckles, or Lisch nodules were present. Several hundred lesions were removed using the carbon dioxide laser. Histopathologic examination of all of the lesions revealed all of them to be intradermal nevi. Our patient's skin disease was clinically very similar to neurofibromatosis. We suggest our patient represents a distinct clinical entity that is related to environmental factors or a mutation that affected nevoblasts or melanoblasts and their derivatives during early embryo development.     

Case of sequentially occurring lesions of facial lichen sclerosus following the lines of Blaschko

Extragenital lichen sclerosus (LS) is usually asymptomatic and appears as ivory- or porcelain-white macules, papules and plaques. It is most common on the neck, shoulders and upper portion of the trunk. To date, the linear form of extragenital LS corresponding to the lines of Blaschko on the trunk or limbs has been rarely reported. We describe a 25-year-old Korean woman with sequentially occurring lesions of extragenital LS confined to the face following the lines of Blaschko.     

Familial Occurrence of Eruptive Vellus Hair Cysts

A 15-year-old white male had an extensive skin eruption that had been present since age 2 years. Physical examination revealed flesh-colored, rough-textured papules surrounded by faint erythema. These lesions were present diffusely over the upper trunk, arms, thighs, face, ears, and neck. Evaluation of four immediate family members revealed a similarly affected brother and father. A biopsy of the papules showed the presence of a mid-dermal epithelial cyst containing numerous vellus hairs.     

Successful treatment of generalized eruptive histiocytoma with PUVA

Generalized eruptive histiocytoma (GEH) is a rare benign skin disease mainly affecting adults which belongs to the family of non‐Langerhans‐cell histiocytoses. A 32‐year‐old Caucasian woman developed disseminated, monomorphic papules of the trunk after a common cold with sinusitis. Mucous membranes, palms and soles were spared. She also suffered from arthralgia without fever or night sweats. After one month, the patient noticed progression of the reddish papules involving the trunk, extremities and face. Clinical as well as histological examination and immunohistochemistry led to the diagnosis of GEH. The clinical examination and laboratory testing were normal, except for eosinophilia in the peripheral blood and bone marrow. No neoplastic diseases were found during thorough examinations. Systemic PUVA therapy produced rapid regression of the skin lesions. After 10 treatments the lesions began to regress leaving slight papules and multiple brown hyperpigmentations. The lesions resolved completely after 20 PUVA treatments. No relapses occurred. Systemic PUVA therapy represents a promising option for the treatment of GEH.     

银屑病样表现的移植物抗宿主病1例

患儿男,5岁。躯干、四肢皮疹伴瘙痒1周。7个月前,因患"急性B淋巴细胞白血病"行异基因造血干细胞移植术,术后发生两次急性移植物抗宿主病,临床表现为绿豆大鲜红色丘疹,压之退色,疹间皮肤正常,曾予糖皮质激素或免疫抑制剂治疗,丘疹可消退。皮肤科情况:面、颈、躯干及四肢伸侧可见散在分布大小不一的圆形或椭圆形干燥性红斑,上覆白色鳞屑,指/趾甲无受累,Auspitz’s征阴性。皮损组织病理示:表皮不规则增厚,浆痂形成,灶性海绵水肿,灶性基底细胞液化,表皮内可见个别坏死角质形成细胞,真皮浅中层血管周围可见稀疏的单一核细胞浸润。诊断:银屑病样表现的慢性移植物抗宿主病。     

褶皱部网状色素异常1例并家系调查

患者女,52岁,胸腹部棕褐色丘疹斑片29年。既往体健,系统检查无异常。皮肤科情况:颈部、腋窝、乳房下等褶皱部密集分布棕褐色扁平丘疹或斑片,相互融合成网状。皮损组织病理示:表皮突呈鹿角状向下延长,真皮浅层血管周围少量淋巴细胞及组织细胞浸润,有散在噬色素细胞。家系调查显示家族4代中6人有类似皮损,男女各3人。诊断为褶皱部网状色素异常。     

Congenital cutaneous candidiasis: a rare and unpredictable disease

Congenital cutaneous candidiasis (CCC) is an extremely rare disorder that presents within the first 6 days of life. The manifestations ranges from diffuse skin eruption without any systemic symptoms to respiratory distress, hepatosplenomegaly, sepsis, and death. We report a neonate who presented with generalized skin eruptions at birth, characterized by erythematous macules and papules. The eruption involved head, face, neck, trunk, and extremities. Candida albicans was demonstrated on direct KOH smear, skin biopsy. The disease implies a congenital intrauterine infection and is different from neonatal candidiasis, which manifests as thrush or diaper dermatitis. The infection is acquired from the maternal genital tract in an ascending fashion. Clinical features, direct smear examination of specimen, and appropriate cultures are useful in differentiating the lesions from other more common dermatoses of the neonatal period. Topical antifungal therapy is sufficient unless systemic candidiasis is present. Prognosis for congenital cutaneous candidiasis is good.