Elastosis perforans serpiginosa in a patient with trisomy 21
University of California at Davis Department of Dermatology. firstname.lastname@example.org
A 12-year-old girl with trisomy 21 (Downs syndrome) presented with an approximate 2-year history of an asymptomatic eruption on the right upper arm and left lateral neck that was clinically and histologically diagnostic of elastosis perforans serpiginosa (EPS). EPS is a perforating dermatosis affecting the face, ear, neck, extremities, or trunk. It occurs with greater frequency in persons with trisomy 21, as well as some other genetic syndromes and after D-penicillamine therapy. It has also been reported as a sporadic, presumably unrelated disorder in several acquired diseases.
In July 2005 a 12-year-old girl with trisomy 21 presented to the University of California Davis Department of Dermatology for evaluation of a scalp lesion. The lesion was clinically consistent with a prurigo nodule and treatment was begun. However, in the course of the initial visit, additional lesions were noted on the right upper arm and the left lateral neck that were inconsistent with prurigo nodularis. Physical examination revealed additional lesions consisting of keratotic erythematous papules arranged in arcuate configurations on the right upper outer arm and the left neck (Fig. 1).
A biopsy was obtained from the left neck. Histopathological examination showed a focal area of epithelial acanthosis and canalization with overlying parakeratotic plugging. Basophilic nuclear debris and eosinophilic fibers are observed entering the epithelial channel from the underlying papillary dermis (Fig. 2a). Verhoef-van Gieson staining of sections highlighted the extruded dermal fibers, confirming their identity as elastin fibers (Fig. 3a). Trichrome stain demonstrated that blue-staining collagen fibers were not involved (Fig. 3b). Clinical and histopathological findings supported a diagnosis of EPS.
Elastosis perforans serpiginosa is a disorder characterized by transepithelial elimination of elastin. It is a member of a larger class of perforating disorders that hold in common the transepithelial elimination of extracellular material or fibers from the dermis. The other perforating disorders are reactive perforating collagenosis, acquired perforating dermatosis, perforating periumbilical calcific elastosis, and perforating granuloma annulare .
Approximately 40 percent of patients with EPS have an underlying genetically-determined syndrome. Reported associations include trisomy 21, Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan disease, pseudoxanthoma elasticum, Rothmund-Thompson syndrome and acrogeria. In addition to these presumably genetically determined cases, a second subset of patients have acquired disorders such as diabetes mellitus, morphea and renal failure; a third subset develops EPS after therapy with penicillamine for Wilson disease, cystinuria, or rheumatoid arthritis .
Elastosis perforans serpiginosa most commonly manifests on the face, neck, and upper extremities . The trunk or lower extremities may also be involved and EPS of the penis has been reported [2, 3]. The typical clinical manifestation consists of asymptomatic to pruritic grouped keratotic papules tending towards serpiginous or annular configurations. The lesions are indolent and may be stable for years .
Histologically, EPS demonstrates a hypertrophic epidermis with focal parakeratotic plugging. Beneath the area of plugging, there is a canal-like structure extending into the papillary dermis. Basophilic nuclear debris and eosinophilic elastic fibers are observed within this channel. Elastic tissue stains highlight these fibers, though usually more weakly than normal elastic fibers. Additionally, occasional foreign body giant cells as well as acute inflammatory cells may be observed [4, 5].
Treatment of EPS is difficult and most methods are reported to have limited success. Reported ablative treatments include cellophane tape stripping, electrodesiccation, and curettage, cryotherapy, glycolic acid, salicylic acid, flashlamp pulsed-dye, erbium:yttrium-aluminum-garnet, and carbon dioxide laser [5, 6, 7, 8]. Other reported modalities include oral and topical retinoids [9, 10], intralesional and topical steroids , topical calcipotriene , and narrow band ultraviolet B radiation .
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