| Literature DB >> 28658971 |
Marisa G Ponzo1, Margot I Van Allen2, Linlea Armstrong2, Magdalena Martinka3, Jan P Dutz1,4.
Abstract
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.Entities:
Keywords: autosomal dominant; eruptive vellus hair cysts; genodermatosis; steatocystoma multiplex
Mesh:
Year: 2017 PMID: 28658971 DOI: 10.1177/1203475417719044
Source DB: PubMed Journal: J Cutan Med Surg ISSN: 1203-4754 Impact factor: 2.092