Department of Dermatology, James Paget University Hospital, Gorleston-on-Sea, United Kingdom.
Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
J Am Acad Dermatol. 2023 Oct;89(4):764-773. doi: 10.1016/j.jaad.2020.12.082. Epub 2021 Feb 12.
Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Based on this study, we propose to rename PPK phacomatosis spilosebacea (PSS). Mosaic mutations of the HRAS gene are the only proven cause of PSS. The extracutaneous abnormalities of PSS result from various degrees of intermingling of Schimmelpenning syndrome and papular nevus spilus syndrome. PSS seems to be a condition at particularly high risk of developing basal cell carcinoma, urogenital malignancies, and vitamin D-resistant hypophosphatemic rickets. Extracutaneous abnormalities were detected in approximately 75% of PSS cases.
色素性角化斑痣病（PPK）的定义为棘皮状丘疹斑痣呈旗帜样排列，以及沿着巴氏线分布的皮脂腺痣。通过对全球文献的系统检索，共检索到 95 例明确的 PPK 病例。另有 30 例因多种原因被排除在外。基于这项研究，我们建议将 PPK 重新命名为棘皮状多发性皮脂腺痣（PSS）。HRAS 基因突变是 PSS 的唯一已知病因。PSS 的皮肤外异常是由于 Schimmelpenning 综合征和棘皮状丘疹斑痣综合征的不同程度混合所致。PSS 似乎是一种基底细胞癌、泌尿生殖系统恶性肿瘤和维生素 D 抵抗性低磷血症性佝偻病风险特别高的疾病。大约 75%的 PSS 病例存在皮肤外异常。
