Tirado Mariantonieta, Ständer Sonja, Metze Dieter
Department of Dermatology, University of Münster, Münster, Germany.
Am J Dermatopathol. 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081.
Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.
戈尔茨-戈林综合征除了有其他表现外，还伴有多发性基底细胞癌、牙源性角化囊肿和皮肤囊肿。皮肤囊肿被描述为表皮样囊肿和角化囊肿，但未进一步明确其特征。对4例与戈尔茨-戈林综合征相关的患者位于四肢、面部、躯干、手掌和足底的23个皮肤囊肿进行了光镜检查，并与非综合征性毳毛囊肿、皮脂腺囊肿和混合性囊肿进行了比较。21个综合征性囊肿显示出不同比例的交替出现的漏斗状和皮脂腺囊肿样鳞状上皮。囊肿内衬光滑和波纹状鳞状上皮。角质层由薄的、板层状和致密嗜酸性角蛋白交替区域组成。只有2例显示出与牙源性角化囊肿非常相似的单纯皮脂腺囊肿样上皮类型。皮脂腺和毛囊结构缺失。掌跖囊肿与其他解剖部位的囊肿之间没有差异。综合征性囊肿的超微结构发现证实了透明角质颗粒的可变表达。6例非综合征性混合性囊肿中只有3例表现出与综合征性囊肿重叠的特征。对综合征性囊肿中角蛋白、内披蛋白、丝聚蛋白、兜甲蛋白和BCL-2表达的免疫组化分析显示K19呈特异性阳性，BCL-2呈连续染色。总之，戈尔茨-戈林综合征的特征性皮肤囊肿有2种类型，与其解剖位置无关，即皮脂腺囊肿样和更常见的混合样。每当漏斗状和皮脂腺囊肿样分化交替和重叠时，应考虑诊断为综合征性混合样囊肿。上皮囊肿的这些发现可能会使人怀疑戈尔茨-戈林综合征是潜在病因。
