DermDx: Circles of Scaly Papules

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A 22-year-old man with Marfan syndrome complains of an asymptomatic rash on his arms and neck that began over a year ago. Initially, only a few bumps were present but the lesions have multiplied and grown over time. Regular use of various over the counter hydrocortisone and antifungal creams failed to show improvement. He is on no medications and has no family history of a similar rash. Examination reveals a tall, thin, well-developed man with disproportionally long arms and legs. Numerous hyperkeratotic papules are present, arranged in groups with an arcuate pattern on his neck and upper back.

Elastosis perforans serpiginosa is one of a tetrad of skin conditions designated as primary perforating dermatoses. Other conditions within this group include Kyrle disease, perforating folliculitis, and reactive perforating collagenosis.1 Individuals most commonly affected by EPS are males during childhood...

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Elastosis perforans serpiginosa is one of a tetrad of skin conditions designated as primary perforating dermatoses. Other conditions within this group include Kyrle disease, perforating folliculitis, and reactive perforating collagenosis.1 Individuals most commonly affected by EPS are males during childhood or early adulthood.2 Some authors have suggested that 90% of cases present before age 30 years and 75% of all cases affect males.1 There is no specific racial predilection.

Elastosis perforans serpiginosa usually begins as solitary 2-mm to 5-mm papules on the neck, face, arms, or other flexural surfaces. Over time, papules grow in number and size, resulting in an annular or serpiginous pattern of erythematous to skin-colored, hyperkeratotic papules or plaques. As each grouping spreads, the central portion may clear leaving an area of hypopigmentation, scale, or atrophy.2,3 Isolated satellite lesions are not uncommon but the presence of numerous, scattered plaques is unusual.3 Papules have a central umbilication through which the elastic fiber debris is extruded, presenting as tightly adherent, skin-colored, or erythematous crust.4 Lesions may be long-lived or spontaneously resolve after 6 months to 5 years.1,3,4 Although the diagnosis may be clinically suspected, histologic assessment is necessary for confirmation.1

Perforating disorders are characterized histologically by the transepidermal elimination of various dermal substances. After Verhoeff-Van Gieson staining, the dermal substance of EPS consists of abnormal elastic fibers that are notably thicker and lose their characteristic staining pattern as they migrate upward through the epidermis.4 These changes are considered to be distinguishing and pathognomonic traits for EPS, differentiating it from the other 3 perforating dermatoses.2,4

Histologic inspection reveals an increased number of compacted, twisted, and fragmented elastic fibers within the epidermis and papillary dermis. A wave-like, spiral, corkscrew, or straight arrangement of elastic fibers can be seen penetrating from the dermis up through the epidermis in a characteristic vertical channel. In the dermal portion of the vertical channel, basophilic debris consisting of necrotic inflammatory cells, keratinocytes, and elastic fibers can be identified. The channel opens onto the surface of the skin as a bowl-shaped cavity with a keratin plug composed of the same debris. The epidermis surrounding the parakeratotic or “horny” plug is hyperplastic and the skin at the opening of the tunnel is often surrounded by a chronic inflammatory infiltrate that may contain lymphocytes, macrophages, and giant cells.1-3

The etiology of EPS remains unknown; it has been proposed that abnormal elastic fibers induce a dermal inflammatory reaction that causes the vertical extrusion of the abnormal fibers through intraepithelial tunnels.1 Interestingly, in 2000, keratinocytes in close proximity to the epidermal tunnel were discovered to express elastin receptors that could potentially facilitate migration of these fibers.1,5

Although EPS  may occur in the absence of other conditions, it has also been described in association with many genetic and systemic disorders that also affect connective tissues such as Marfan syndrome, Down syndrome, Ehlers-Danlos syndrome type IV, acrogeria, osteogenesis imperfecta, Rothmund-Thomson syndrome, cutis laxa, scleroderma, rheumatoid arthritis, diabetes mellitus, perforating folliculitis, and chronic renal failure.1-3,6,7 There are also reports of familial cases thought to be inherited in an autosomal dominant fashion with variable expressivity.2,8 Patients on long-term penicillamine therapy for Wilson disease or cystinuria may develop an EPS-like rash.1-4

Clinically, the differential diagnosis for EPS should include not only other perforating dermatoses but also conditions such as calcinosis cutis, granuloma annulare, tinea corporis, annular sarcoidosis, and porokeratosis of Mibelli, cutaneous larva migrans, pseudoxanthoma elasticum, and molluscum contagiosum.1-3 Most of these conditions have specific clinical clues that can help make the alternate diagnosis but, if necessary, histologic findings will identify the correct diagnosis.

No uniformly effective treatment has yet been established for EPS. Case reports in the literature describe variable success with multiple treatment modalities. Potential treatments include topical agents such as retinoids, imiquimod, corticosteroids, calcipotriene, and alpha-hydroxy acids. Other options include intralesional corticosteroid injections, ultraviolet B phototherapy, cryotherapy, and use of various lasers such as carbon dioxide, erbium, yttrium-aluminum-garnet, or pulsed-dye laser.1,3,8-10 More aggressive management may result in greater scarring which should be discussed with each patient.11,12 In penicillamine-induced EPS, discontinuation of penicillamine does not consistently result in spontaneous resolution.2,9

After discussing the potential treatment options, conservative therapy was chosen by our patient. Tretinoin 0.05% cream was prescribed to be applied nightly for 6 months. Unfortunately, at the first follow-up visit 6 months later only marginal clinical improvement was observed. Electrosurgery and cryotherapy were declined due to concern for scarring. Intralesional corticosteroid injection was performed and calcipotriene cream was prescribed to be applied daily for the next 2 months, at which time alternate options will be considered if these modalities prove to be ineffective as well.

Julia R. Nunley, MD, is a professor in the Department of Dermatology at Virginia Commonwealth University School of Medicine in Richmond; David Salomonsky, MD, is an intern at Mountain Area Health Education Center (MAHEC) in Ashville, North Carolina.

References

1. Polańska A, Bowszyc-Dmochowska M, Żaba RW, Adamski Z, Reich A, Dańczak-Pazdrowska A. Elastosis perforans serpiginosa: a review of the literature and our own experience. Postepy Dermatol Alergol. 2016;33(5):392-395. doi:10.5114/ada.2016.62849

2. Lee SH, Choi Y, Kim SC. Elastosis perforans serpiginosa. Ann Dermatol. 2014;26(1):103-106. doi:10.5021/ad.2014.26.1.103

3. Lewis KG, Bercovitch L, Dill SW, Robinson-Bostom L. Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes. J Am Acad Dermatol. 2004;51(1):1-21. doi:10.1016/j.jaad.2004.03.013

4. Mehta RK, Burrows NP, Payne CM, Mendelsohn SS, Pope FM, Rytina E. Elastosis perforans serpiginosa and associated disorders. Clin Exp Dermatol. 2001;26(6):521-4. doi:10.1046/j.1365-2230.2001.00882.x

5. Fujimoto N, Tajima S, Ishibashi A. Elastin peptides induce migration and terminal differentiation of cultured keratinocytes via 67 kDa elastin receptor in vitro: 67 kDa elastin receptor is expressed in the keratinocytes eliminating elastic materials in elastosis perforans serpiginosa. J Invest Dermatol. 2000;115(4):633-639. doi:10.1046/j.1523-1747.2000.00117.x

6. Mehregan AH. Elastosis perforans serpiginosa: a review of the literature and report of 11 cases. Arch Dermatol. 1968;97(4):381-93. doi:10.1001/archderm.97.4.381

7. Woo TY, Rasmussen JE. Disorders of transepidermal elimination. Part 1. Int J Dermatol. 1985;24(5):267-279. doi:10.1111/j.1365-4362.1985.tb05781.x

8. Heymann WR. Of every possible solution for elastosis perforans serpiginosa, fractional carbon dioxide laser may be the best. Dermatology World Insights and Inquires. November 13, 2017. Accessed January 27, 2021. https://www.aad.org/dw/dw-insights-and-inquiries/medical-dermatology/of-every-possible-solution-for-elastosis-perforans-serpiginosa-fractional-carbon-dioxide-laser-may-be-the-best

9. Outland JD, Brown TS, Callen JP. Tazarotene is an effective therapy for elastosis perforans serpiginosa. Arch Dermatol. 2002;138(2):169-171. doi:10.1001/archderm.138.2.169

10. Kelly SC, Purcell SM. Imiquimod therapy for elastosis perforans serpiginosa. Arch Dermatol. 2006;142(7):829-30. doi:10.1001/archderm.142.7.829

11. Kelati A, Lagrange S, Le Duff F, Lacour JP, Passeron T. Treatment of elastosis perforans serpiginosa using a fractional carbon dioxide laser. JAMA Dermatol. 2017;153(10):1063-1064. doi:10.1001/jamadermatol.2017.2223

12. Saxena M, Tope WD. Response of elastosis perforans serpiginosa to pulsed CO2, Er:YAG, and dye lasers. Dermatol Surg. 2003;29(6):677-8. doi:10.1046/j.1524-4725.2003.29164.x

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