Elastosis perforans serpiginosa (EPS) is an uncommon skin disease characterized by transepidermal elimination of abnormal elastic fibers. The disease is frequently associated with congenital connective tissue disorders or Down's syndrome. The pathogenesis of EPS is still unclear. There are a few reports in the literature about a familial occurrence of EPS in which different modes of inheritance are suggested. To support the hypothesis of a congenital origin of the disease, we have studied another family with EPS.
In this study, we describe a family in which two sisters and a brother were affected by EPS. The father and three paternal uncles were most probably affected by the same disease. There were no signs of other congenital connective tissue disease in the family members.
An autosomal dominant mode of inheritance with variable expression of EPS is suggested.(Arch Dermatol. 1993;129:205-207)
Langeveld-Wildschut EG, Toonstra J, van Vloten WA, Beemer FA. Familial Elastosis Perforans Serpiginosa. Arch Dermatol. 1993;129(2):205–207. doi:10.1001/archderm.1993.01680230089012
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