Elastosis Perforans Serpiginosum Clinical Presentation

Updated: Mar 06, 2019
  • Author: Elizabeth A Liotta, MD; Chief Editor: William D James, MD  more...
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Presentation

History

In elastosis perforans serpiginosa (EPS), small papules erupt and are grouped in a confined area, eventually becoming serpiginous. The central core of each papule contains a compressed aggregate of fibrous material and cellular debris that, eventually, is disgorged to the surface, after which the papule subsides and disappears.

Elastosis perforans serpiginosa usually is asymptomatic but can be pruritic. Secondary lesions are vague scars or areas of roughness and hypopigmentation or hyperpigmentation that result after the primary lesions have subsided and disappeared.

The three general categories of elastosis perforans serpiginosa are idiopathic, reactive, and drug induced.

Idiopathic elastosis perforans serpiginosa

Familial groupings have implicated both dominant and recessive types of inheritance. Inciting events are not known. [3, 4] Probably, 65% (or more) of elastosis perforans serpiginosa cases are idiopathic.

Reactive elastosis perforans serpiginosa

This form of elastosis perforans serpiginosa is associated with other diseases (eg, Down syndrome, Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, scleroderma, acrogeria, perforating granuloma annulare, pseudoxanthoma elasticum).

More than 1% of people with Down syndrome have elastosis perforans serpiginosa. One reported case of elastosis perforans serpiginosa was seen in Moyamoya disease, which is a progressive occlusive disease of the cerebral vessels. This patient also had Down syndrome, so it is unclear if the elastosis perforans serpiginosa association was with Moyamoya disease and could be a marker of elastosis perforans serpiginosa. [5]

Perforating diseases that may occur in conjunction with elastosis perforans serpiginosa include reactive perforating collagenosis, perforating folliculitis, pseudoxanthoma elasticum, [6] and Kyrle disease. [7] Sufficient similarities and overlapping features are seen to suspect them of being variants of elastosis perforans serpiginosa in these patients; however, elastosis perforans serpiginosa is not associated regularly with diabetes, while the other three diseases usually are associated with diabetes. Reactive types comprise 25-30% of cases of elastosis perforans serpiginosa.

Drug-induced elastosis perforans serpiginosa

D-penicillamine appears to be the only drug for which elastosis perforans serpiginosa is an adverse effect. This form of elastosis perforans serpiginosa occurs in approximately 1% of treated patients. Usually, long-term treatment for Wilson disease provokes the occasional case of elastosis perforans serpiginosa, but its use in the treatment of cystinuria and rheumatoid arthritis has had similar effects. The elastosis perforans serpiginosa eruption may appear 1 or more years after the start of treatment. This eruption often is symmetrical, widespread, and long lasting. It may appear at any time after treatment begins and usually resolves after withdrawal of the drug.

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Physical Examination

Clinical features of elastosis perforans serpiginosa

Primary lesions are eruptive, dome-shaped, eventually umbilicated papules, measuring a few to several millimeters in diameter. Lesions are flesh colored to red. Usually, lesions are grouped in linear, arciform, circular, or serpiginous patterns, measuring several centimeters in diameter. New papules may appear in lines and figures that appear to migrate and enlarge peripherally.

Distribution of elastosis perforans serpiginosa

Any part of the skin may be affected. Most patients have only 1 area of skin involvement at a time, with the exception of Down syndrome patients, who typically have numerous active lesions. Frequently, these patients have symmetric extremity lesions. If multiple lesions are present, the figures may display a degree of anatomic symmetry.

Sites of elastosis perforans serpiginosa

The sites most commonly affected are the nape of the neck (70%), upper extremities (20%), face (11%), lower extremities (6%), and trunk (3%). One case of penile involvement was reported in 2003. [8] Another report from 2009 described a case induced by penicillamine therapy that occurred on the lip mucosa. [9, 10]

Elastosis perforans serpiginosa in an arciform pat Elastosis perforans serpiginosa in an arciform pattern on nape of neck.
Advancing serpiginous arrangement of elastosis per Advancing serpiginous arrangement of elastosis perforans serpiginosa papules with mild scarring in their wake.
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Complications

Vascular or visceral rupture is possible with systemic elastosis perforans serpiginosa.

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