Blinkenberg Ellen O, Brendehaug Atle, Sandvik Arne K, Vatne Oystein, Hennekam Raoul C M, Houge Gunnar
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Eur J Hum Genet. 2007 May;15(5):543-7. doi: 10.1038/sj.ejhg.5201800. Epub 2007 Mar 7.
We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. All affected family members are females, there is no increased miscarriage rate, and X-inactivation in affected females is highly skewed, compatible with X-linked dominant inheritance with very early in utero lethality in males. In the family, 11 informative meioses were available to study the segregation of X-chromosome markers. Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere.
我们报告了一个四代家族，其出现沿布拉斯科线分布的局限性表皮下毛细血管扩张（匐行性血管瘤）。血管条纹在出生时即存在，此后缓慢进展。在几名家族成员中，发现整个食管的乳头瘤病是该病症的一部分。轻度的指甲和毛发营养不良增加了与戈尔茨-戈林综合征（局灶性真皮发育不全）的相似性，提示当前病症可能是一种轻度变异型。所有受影响的家族成员均为女性，流产率未增加，且受影响女性的X染色体失活高度偏斜，符合X连锁显性遗传，男性在子宫内极早期致死。在该家族中，有11个可提供信息的减数分裂用于研究X染色体标记的分离情况。发现与标记DXS8026和DXS106侧翼的一个区域存在显著连锁（LOD分数为3.31）（距Xpter 44 - 67 Mb），该区域包括着丝粒。
