Question:
A 24-year-old male presents to your office with the following presentation. Which of the following disorders have been associated with this clinical finding? (hint: there may be more than 1 correct answer).
Answer choices:
A. Hyperlipidemia
B. Osteogenesis imperfecta
C. Down syndrome
D. Thyroid disease
E. Rothman-Thompson syndrome
F. HIV
G. Penicillamine exposure
Rationale: The clinical finding is consistent with elastosis perforans serpiginosa (EPS). EPS is categorized as an acquired perforating disorder which encompasses a group of disorders including Kyrle disease, perforating folliculitis, and reactive perforating collagenosis. EPS typically arises in childhood or young adulthood presenting as keratotic and umbilicated papules in an arcuate pattern commonly found on the neck or upper extremities. It can be difficult to treat and frequently recurs but usually disappears spontaneously after several years. Histologically, there is transepidermal elimination of eosinophilic elastic fibers as noted in the slide below.
Correct answers: B, C, E, G
Almost half of the cases of elastosis perforans serpiginosa have been associated with a genetic syndrome or penicillamine exposure. A helpful mnemonic for remembering the associations with EPS is RAP MOED or MAD PORES: Rothmund-Thompson syndrome, Acrogeria, Pseudoxanthoma elasticum / Penicillamine, Marfan syndrome, Osteogenesis imperfecta, Ehlers-Danlos syndrome, Down syndrome, and Scleroderma. Cutis laxa has also been associated.
Incorrect answers: A, D, F
Hyperlipidemia, hypothyroidism, and HIV have been associated with granuloma annulare but are not commonly associated with EPS.
Additional reading at Weinberg's Color Atlas Section 12: Papulosquamous Diseases and Fitzpatrick's Dermatology Chapter 71: Acquired Perforating Disorders