D'Alessandro Mariella, Coats Stephanie E, Morley Susan M, Mackintosh Lorna, Tessari Gianpaolo, Turco Alberto, Gerdes Anne-Marie, Pichert Gabriella, Whittaker Sean, Brandrup Flemming, Broesby-Olsen Sigurd, Gomez-Lira Macarena, Girolomoni Giampiero, Maize John C, Feldman Ron J, Kato Naoko, Koga Yukiko, Ferguson-Smith Malcolm A, Goudie David R, Lane E Birgitte
Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, Dundee, UK.
J Invest Dermatol. 2007 Oct;127(10):2336-44. doi: 10.1038/sj.jid.5700914. Epub 2007 Jun 7.
Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith Disease, is a rare cancer-associated genodermatosis with an autosomal dominant inheritance. Affected patients suffer from recurrent skin lesions, which clinically and histologically resemble keratoacanthomas or well-differentiated squamous cell carcinomas, but which, if left, undergo spontaneous regression, leaving pronounced scarring. The majority of MSSE cases previously described were of Scottish ancestry and all shared the same at-risk haplotype, suggesting that this disorder was caused by a founder mutation. The candidate locus for MSSE lies in a region of <4 cM in chromosome 9q22, between the markers D9S197 and D9S1809. We recently investigated MSSE families of non-Scottish origin. For every patient of these families, we obtained a detailed clinical history, with particular attention to the age of onset, distribution, and clinical course of their skin lesions. Once confirmed that they were really affected by MSSE, we performed haplotype analysis on them and their families. The haplotypes for polymorphic markers segregating with MSSE in non-Scottish and Scottish families differ, suggesting that MSSE is not caused by a founder mutation and might be more common than originally thought.
多发性自愈性鳞状上皮瘤（MSSE），也称为弗格森 - 史密斯病，是一种罕见的与癌症相关的遗传性皮肤病，呈常染色体显性遗传。受影响的患者会反复出现皮肤病变，这些病变在临床和组织学上类似于角化棘皮瘤或高分化鳞状细胞癌，但如果不进行处理，会自发消退，留下明显的疤痕。先前描述的大多数MSSE病例都有苏格兰血统，并且都共享相同的风险单倍型，这表明这种疾病是由一个奠基者突变引起的。MSSE的候选基因座位于9号染色体q22区域中小于4 cM的区域，在标记D9S197和D9S1809之间。我们最近对非苏格兰血统的MSSE家族进行了调查。对于这些家族中的每一位患者，我们都获取了详细的临床病史，特别关注其皮肤病变的发病年龄、分布和临床过程。一旦确认他们确实患有MSSE，我们就对他们及其家族进行了单倍型分析。在非苏格兰和苏格兰家族中，与MSSE共分离的多态性标记的单倍型不同，这表明MSSE不是由奠基者突变引起的，并且可能比最初认为的更常见。
