https://doi.org/10.1177/1203475417719044 Journal of Cutaneous Medicine and Surgery 1–4 © The Author(s) 2017 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/1203475417719044 jcms.sagepub.com Eruptive vellus hair cysts (EVHCs) are small, asymptomatic monomorphic skin-colored papules classically distributed on the chest and limbs but can be found in other areas that also have pilosebaceous and apocrine units. 1 EVHCs may rarely present on the face, and a familial inheritance pattern has been reported in the literature. 2-7 We report a kindred with biopsy-proven facial EVHCs, cardiac defects, preauricular pits, joint hypermobility, and other extracutaneous manifestations. EVHCs have been described in association with steatocystoma multiplex (SM); however, SM but not EVHCs has been described to be associ- ated with extracutanous features. 1 To our knowledge, no other syndrome presenting with white-yellow papules on the face in association with systemic manifestations has been previ- ously reported. In particular, Cowden (and PTEN hamartoma tumor syndrome), Birt-Hogg-Dubé, Schöpf-Schulz-Passarge, and Brooke-Spiegler syndromes present with multiple facial papules but with a different constellation of systemic involve- ment 8 and facial papules with different pathology. Patients and Methods Patients were interviewed, examined, and photographed (Nikon D300 model; Nikon, Tokyo, Japan) with verbal and written consent at the Skin Care Centre and the British Columbia Children’s Hospital. Chart review was per- formed and laboratory data were collected. Cutaneous his- topathologic examination was performed on 3 affected individuals (III-1, III-2, IV-2; Figure 1). Tissue sections were stained with hematoxylin and eosin and read by a dermatopathologist (M.M.). Histology slides were scanned using the Aperio ScanScope and images were captured using the Aperio ImageScope software (Leica Biosystems, Buffalo Grove, IL, USA). Results and Discussion The pedigree reflected an autosomal dominant pattern of inheritance (Figure 1). The kindred had mixed Danish, Dutch, English, and Scottish decent and no consanguinity. Patients interviewed and examined by the authors were the proband V-1, IV-2, III-1, and III-2 while clinical and histori- cal features of the other members of the kindred were reported by history (Figure 1). The proband, a 4-year-old male (V-1), was investigated in early infancy due to macrocephaly (head circumference 37 cm, >90th percentile), tall stature (birth weight 4315 g, >90th Case Report 719044CMS XX X 10.1177/1203475417719044Journal of Cutaneous Medicine and SurgeryPonzo et al research-article 2017 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 3 Department of Pathology and Laboratory Medicine and Department of Dermatology and Skin Science, University of British Columbia, Vancouver, Canada 4 Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada Corresponding Author: Jan Peter Dutz, University of British Columbia, Skin Care Centre, 835 West 10th Avenue, 3rd Floor, Vancouver, BC V5Z 4E8, Canada. Email: Jan.dutz@vch.ca Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features Marisa G. Ponzo 1 , Margot I. Van Allen 2 , Linlea Armstrong 2 , Magdalena Martinka 3 , and Jan P. Dutz 1,4 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. Keywords eruptive vellus hair cysts, steatocystoma multiplex, genodermatosis, autosomal dominant