Elastosis Perforans Serpiginosa

Abstract

Elastosis perforans serpiginosa (EPS), a rare disease, has been associated with mongolism and several connective tissue disorders, including osteogenesis imperfecta, pseudoxanthoma elasticum, Marfan syndrome, and Ehlers-Danlos syndrome. The first description of EPS was made by Lutz in 1953.¹Two years later, Miescher²presented a complete histopathologic study. The first cases of EPS in the United States were described by Hitch and Lund in 1959.³ To my knowledge, this is the third patient reported to have EPS coincident with osteogenesis imperfecta, which is a generalized disorder of connective tissue involving the fascia, ligaments, skin, sclera, tendons, inner ears, and bones, that typically results in the patient's having blue sclera and brittle bones.⁴ <h3>REPORT OF A CASE</h3> A 17-year-old boy had had blue sclerae since infancy. As a child, he had had several fractures, and x-ray films taken on each occasion were consistent with the diagnosis of osteogenesis