1 Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.
2 Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
J Cutan Med Surg. 2017 Nov/Dec;21(6):564-567. doi: 10.1177/1203475417719044. Epub 2017 Jun 28.
Eruptive vellus hair cysts (EVHCs) often occur on the trunk and limbs. Facial involvement is uncommon. Autosomal dominant inheritance has been described, but associated extracutaneous anomalies have not. We describe a 4-patient kindred presenting with multiple facial EVHCs and an association of preauricular pits, lipomas, joint hypermobility, and cardiac defects. Histopathologic examination confirmed the diagnosis of EVHCs in 3 affected individuals. We propose that facial EVHCs may indicate the presence of an inherited autosomal dominant disorder with extracutaneous manifestations. Extracutaneous manifestations noted in the kindred have been sporadically described in association with steatocystoma multiplex (SM), a condition occasionally noted in the presence of EVHCs, further supporting an association between these disorders.
爆发性毳毛囊肿（EVHCs）常发生于躯干和四肢。面部受累并不常见。已描述常染色体显性遗传，但无相关的皮肤外异常。我们描述了一个有 4 位患者的家系，他们表现为多发性面部 EVHCs，伴耳前凹、脂肪瘤、关节过度活动和心脏缺陷。组织病理学检查在 3 位受累个体中证实了 EVHCs 的诊断。我们提出，面部 EVHCs 可能提示存在一种具有皮肤外表现的遗传性常染色体显性疾病。该家系中观察到的皮肤外表现曾偶尔与多发性皮脂囊瘤（SM）相关联，后者在 EVHCs 存在时也有报道，这进一步支持了这些疾病之间的关联。
