Elastosis perforans serpiginosa (EPS) can occur in patients with an underlying connective tissue disorder. Down syndrome, osteogenesis imperfecta, acrogeria, Ehlers-Danlos syndrome type IV, Marfan syndrome, pseudoxanthoma elasticum, Rothmund-Thomson syndrome, and scleroderma have all been associated with EPS. The clinical appearance exhibits umbilicated papules arranged in a typical serpiginous pattern, usually located around the neck. Less frequently, lesions may be seen on the face, abdomen, and extremities with a symmetrical distribution, as in our case. The clinical course may be variable with a spontaneous resolution in a few months or years, but frequently new lesions develop leading to persistence and progression of the disorder. We describe a 12-year-old girl affected by Down syndrome who presented a localized form of EPS, which involved only the extremities. Strangely, it resolved spontaneously after biopsy with no recurrence, without therapy.
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A 12-year-old girl affected with Down syndrome presented with a two year history of several mildly pruritic, enlarging hyperkeratotic papules and plaques distributed symmetrically over the knees (Figure 1) and the elbows. Her family history was negative for any cutaneous or systemic disorder. She was also affected by primary hypothyroidism, controlled by levothyroxin (37.5 μg/day), and growth hormone deficiency treated with growth hormone.
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Physical examination revealed multiple reddish papules, most of which were umbilicated with a central keratotic plug. These were disposed in several serpiginous lines, some within hyperpigmented macules (Figure 2). A biopsy specimen from the knee was submitted for histopathologic evaluation (Figure 3 and Figure 4).
Histological examination of a biopsy specimen from the left knee revealed a moderately acanthotic epidermis with a remarkable increase of elastic fibers around hair follicles and a transepithelial perforating channel containing basophilic material, consisting of elastic fibers and degenerated epithelial cells (Figure 3). Weigert stain showed individual elastic fibers thicker than normal both in the papillary and reticular dermis. Those extruded through the epidermis lost their characteristic staining properties (Figure 4). Soon after the biopsy, the lesions began to disappear without any treatment and there has been no recurrence to date, at three-year follow-up.
EPS can occur in patients with an underlying connective tissue disorder. Down syndrome, osteogenesis imperfecta, acrogeria, Ehlers-Danlos syndrome type IV, Marfan syndrome, pseudoxanthoma elasticum, Rothmund-Thomson syndrome, and scleroderma have all been associated with EPS [1]. EPS is also rarely found in patients on penicillamine therapy [2]. The clinical appearance exhibits umbilicated papules arranged in a typical serpiginous pattern, usually located around the neck. Less frequently, lesions may be seen on the face, abdomen, and extremities with a symmetrical distribution, as in our case. The clinical course may be variable with a spontaneous resolution in a few months or years, but frequently new lesions develop leading to persistence and progression of the disorder [3]. On the other hand, widespread cases of EPS running a longer course (10 years on average) have recently been described in patients with Down syndrome [4, 5]. The pathogenesis of EPS is unclear. Extrusion of structurally altered elastic fibers from the papillary dermis might result from a genetic abnormality of elastic tissue, as the striking linkage with heritable diseases of connective tissue seems to suggest. Moreover, it has been well established that phagocytes of Down syndrome subjects display some characteristic functional impairment with low chemotactic ability and reduced production of oxygen radicals [6], favoring the transepithelial elimination of the degenerated material that is not properly removed.
Management of this condition is very difficult. Various treatment methods have been used, but with limited success: cryotherapy, CO2 lasers [7], tazarotene [8], imiquimod [9], and oral isotretinoin [2] proved effective in some reports. In our case, spontaneous resolution after biopsy was noted with no recurrence at examination 3 years later.
© 2011 Dermatology Online Journal