Extensive proliferative nodules in a case of giant congenital naevus

The rare presence of proliferative nodules in cases of giant congenital naevus can, in some cases, be potentially misdiagnosed as neonatal melanoma. We report here a case of multiple, proliferative nodules found in a giant congenital naevus lesion in a female neonatal patient diagnosed with neurocutaneous melanosis. Our initial clinical observations of this case suggested the possibility of primary cutaneous neonatal melanoma or skin metastasis from a melanoma in the meninges or elsewhere in the central nervous system. However, histological examination revealed no sign of melanoma, abnormal mitosis, necrosis or any malignant change. Pagetoid arrays of naevus cells in the junctional zone and myxoid changes present in a significant portion of the dermis led to the diagnosis of proliferative nodules. Distinct histological patterns seen in the proliferative nodules in our neonatal patient were useful to differentiate between benign pigmented nodular lesions in a giant congenital naevus and malignant melanoma, and reduced the chance of misdiagnosis.     

一例皮肤Rosai-Dorfman病及皮损超微结构观察

患者男,45岁.因背部结节、肿块半年于2008年4月11日来我院就诊.患者半年前发现背部皮肤有甲盖大的暗红色结节,高出皮肤,以后皮疹逐渐增大增多,出现多个大小不等的暗红色结节、肿块,无破溃.     

棘层松解角化不良性表皮痣并发色素性毛表皮痣

报告1例单侧棘层松解角化不良性表皮痣并发色素性毛表皮痣。患者男,40岁。10岁时左侧胸部出现片状多毛区,其间有许多淡红色小丘疹。10年前同侧肢体出现红色疣状丘疹,部分融合。皮损冬轻夏重,伴有轻度瘙痒。皮损组织病理学检查可见表皮乳头瘤样增生,基底层上方棘层松解和裂隙,类似Darier病样改变。     

Klippel-Trénaunay-Weber syndrome—report of a case associated with an incomplete form of Sturge-Weber syndrome

A 23-year-old man with angiomatous lesions on the left half of the body, varicose veins and hypertrophy of soft tissue and bone of the left upper limb is reported. Of particular interest was the association with angiomatous lesions on the left half of the face with visual disturbance. The combination of Klippel-Trénaunay-Weber syndrome and an incomplete form of Sturge-Weber syndrome could suggest a nosological relationship.     

泛发性皮脂腺痣1例

1临床资料 患儿女, 4个月。生后即发现头面、躯干及上肢多数淡红色斑片,表面尚光滑。 2个月后皮损逐渐高起皮面,头面部分叶明显,躯干部表面粗糙,有瘙痒感 (患儿以头磨擦衣被 ),于 1996年 12月就诊。患儿系第 1胎第 1产,足月顺产,其母孕期无特殊疾病及用药史。父母非近亲结婚,家族中无类似疾病患者。体格检查：患儿一般情况好,系统检查无异常。皮肤科情况：头面部 3处近圆形斑块,直径约 3cm,淡红色,高起皮面约 1mm,边缘整齐,表面稍粗糙,呈分叶状,无毛发生长。后枕部皮损处另有一花生米大皮赘。右侧肩部、上肢及躯干部皮损呈…     

Extensive naevus comedonicus in a child with Alagille syndrome

Naevus comedonicus is a rare condition, thought to be a hamartoma in which cells of the pilosebaceous unit fail to develop appropriately.¹ Although it is usually an isolated phenomenon, it has been associated with other defects, including those of the skeletal, ocular and central nervous system.² A girl with this condition is described who also had Alagille syndrome (arteriohepatic dysplasia), a previously unreported association.     

Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus,epidermal naevus syndrome and hypophosphataemic rickets

The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and elevated fibroblast growth factor 23 levels is known as cutaneous–skeletal hypophosphataemia syndrome (CSHS), and can be caused by somatic activating mutations in RAS genes. We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids. An activating mutation Q61R in the NRAS gene was found in affected skin and ocular tissue but not blood, implying that the disparate manifestations are due to a multilineage activating mutation (mosaic RASopathy). We speculate on the apparently rare association of CSHS with CMN compared with EN. We also report the favourable outcome of this patient at the age of 8 years after extensive neonatal curettage of the giant CMN and use of vitamin D and phosphate supplementation.     

The inflammatory linear verrucous epidermal naevus–a case report

A 32-year-old woman is described who showed widespread papular, warty or linear lesions which have remained unchanged over a period of 9 years observation. Clinically and histo-logically we consider the diagnosis to be inflammatory linear verrucous epidermal naevus. Unusual features were the relatively late onset and the widespread and bilateral distribution.     

Phenytoin–induced toxic epidermal necrolysis: a case report

We present a case of phenytoin-induced toxic epidermal necrolysis resulting in 60–70% skin involvement. Systemic corticosteroids and prophylactic antibiotics used initially were discontinued, and subsequent management concentrated on intensive supportive treatment. The patient survived, but is left with disabling ocular complications.