Balloon cell naevus of the conjunctiva: clinicopathological features and management

A 7‐year‐old Caucasian girl presented with a pigmented lesion on the left bulbar conjunctiva that increased in size from 1 mm to 4 mm over a 12‐month period. She underwent excision biopsy and reconstruction of the ocular surface with amniotic membrane graft. Histopathology showed the naevus was composed of somewhat swollen naevus cells with clear cytoplasm and central nucleus. These vacuolated naevus cells were approximately 40 µm in diameter. Over 90% of the cells in the naevus were composed of these swollen cells. Immunohistochemical staining was positive for S100 and Melan‐A. This case illustrates that balloon cells may be observed in conjunctival naevi at a previously unreported pre‐pubescent age. Awareness of ballon cell naevus is important to avoid clinical and histological pitfalls in diagnosis.     

C02激光和调QNd：YAG激光单独或联合治疗鼻翼先天性色素痣．

目的鼻翼先天性色素痣的激光治疗方法的选择和疗效观察。方法根据治疗方法分为三组,A组CO2激光组,治疗患者10例;B组调Q Nd：YAG激光组,治疗患者9例;C组两种激光联合应用组,治疗患者8例。A组采用CO2激光治疗,功率3～5 W照射烧灼病灶,直至完全将病灶清除,并根据鼻翼及其周围组织的外观形态塑造伤口的形态。B组采用调Q Nd：YAG激光治疗,能量密度3～8 J/cm^2对病灶进行点状扫描照射使创面呈现灰白色并轻微渗血。结果本组27例病例末次治疗后随访1年。其中,A组平均治疗次数1.9次,B组平均治疗次数4.2次;C组平均治疗次数3.4次。27例患者,痊愈10例（占37.0%）;好转12例（占44.5%）;无效5例（占18.5%）。结论对发生在鼻翼及其周围组织的先天性色素痣,根据其自身形态特点适当选用CO2激光、Nd：YAG激光或两种激光联合应用的方法对病灶进行治疗,手术操作简单,术后鼻翼形态良好,是一种值得推广的治疗方法。     

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

BACKGROUND: White sponge naevus (WSN) is a rare autosomal dominant condition which is characterised by benign, white spongy plaques (oral leukokeratoses) affecting non-cornifying, wet mucosa. WSN shares several ultrastructural characteristics (eg, epithelial thickening, acanthosis, keratin filament aggregation) with a number of epithelial disorders caused by mutations in keratin genes and to-date two mutations, one in each of the mucosal specific keratins, K4 and K13, have been identified as the molecular basis of the disorder. OBJECTIVES: To identify the molecular basis of WSN in two families with a history of the disease. RESULTS: Two novel mutations were identified in helix initiation motif of K13. A T-to-C transition was found in the affected members of one family which is predicted to change leucine115 to proline. In the second family, a similar T-to-C transition was found in codon 108 which is predicted to change methionine to threonine in the protein sequence. These changes were not found in 50 unrelated, unaffected individuals. CONCLUSIONS: The mutations in the helix initiation motif of K13 are the cause of WSN in these families. These cases confirm mutations in the mucosal specific keratins as a significant cause of the disorder.     

母女同患颧部褐青色痣,女儿并发白癜风

报告1例颧部褐色痣并发白癜风，其母同患颧部褐青色痣。患儿女，5岁。自3岁开始双颧部出现多个褐青色斑，呈圆形，相互不融合，就诊前半年右眼内、外眦部皮肤出现色素脱失斑。其母36岁，自20岁开始双颧部出现对称柱褐青色圆形斑，并逐渐增多。     

Naevus comedonicus of the scalp

We report the case of a 3-year-old boy with naevus comedonicus, characterized by confluent clusters of dilated follicular orifices plugged with keratinous material that resemble open comedones, located on the scalp.     

A novel mutation in the keratin 4 gene causing white sponge naevus

BACKGROUND: White sponge naevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia, most commonly the buccal mucosa. Clinically, WSN manifests as thickened spongy mucosa with a white opalescent tint in the mouth and may be confused with other disorders that cause white lesions on oral mucosa. Recent studies have identified pathogenic mutations in KRT4 and KRT13, the genes encoding mucosa-specific keratins, in WSN. OBJECTIVES: To search for possible mutations in KRT4 and KRT13. METHODS: We report a case of WSN in a young man who presented with diffuse irregular whitish plaques involving the buccal and gingival mucosae and the tongue. Results Pathologically, the affected mucosa showed epithelial thickening, parakeratosis and extensive vacuolization of the suprabasal keratinocytes. Mutation analysis revealed a heterozygous missense mutation 1345G-->A in KRT4, predicting an amino acid change, E449K, in the 2B domain of the K4 polypeptide. CONCLUSIONS: We report the first mutation analysis of a Taiwanese patient with WSN. Potentially this novel mutation could disrupt the stability of keratin filaments and result in WSN.     

Schimmelpenning综合征

报告1例Schimmelpenning综合征.患者女,20岁.头面部出现棕褐色、棕红色斑块20年.眼科检查示左上眼睑近内眦外有一增生物,双眼视力下降,左眼视乳头发育畸形,脉络膜部分缺损.左上眼睑增生物组织病理检查显示为分化良好的脂肪细胞,无明显异形,未见核分裂象,瘤体内有不规则的小血管.头皮皮损组织病理检查显示表皮棘层肥厚,真皮乳头瘤样增生,皮脂腺小叶增生,腺体分化成熟,无皮脂腺导管.头颅CT示左额骨局限性受压膨隆,皮质变薄.