eMedicine Specialties > Dermatology > Diseases of the Dermis

Elastosis Perforans Serpiginosum

Author: Elizabeth A Liotta, MD, Assistant Professor, Department of Dermatology, Uniformed Services University of the Health Sciences
Contributor Information and Disclosures

Updated: Oct 2, 2009

Introduction

Background

Elastosis perforans serpiginosa (EPS) is a rare skin disease in which abnormal elastic tissue fibers, other connective tissue elements, and cellular debris are expelled from the papillary dermis through the epidermis (transepithelial elimination). Elastosis perforans serpiginosa may be distinguished morphologically and histologically from other cutaneous diseases.

The first recognizable description of elastosis perforans serpiginosa was provided by Fischer in 1927 but was offered as an example of Kyrle disease. Jones and Smith also described elastosis perforans serpiginosa in 1947 but mistook it for porokeratosis of Mibelli. In 1953, Lutz recognized the features of elastosis perforans serpiginosa as those of an unknown disease and termed the condition keratosis follicularis serpiginosa. Miescher believed the condition was unique and termed it elastoma intrapapillare perforans verruciform.

Elastosis perforans serpiginosa is a disease of connective tissue, possibly of autoantigenic etiology, that occurs in the following 3 forms:

• Idiopathic elastosis perforans serpiginosa: The cause of idiopathic elastosis perforans serpiginosa is unknown; genetic predisposition is possible.
• Reactive elastosis perforans serpiginosa: This form is associated regularly with systemic, inherited, fibrous tissue abnormalities, such as Down syndrome, Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, scleroderma, and pseudoxanthoma elasticum.
• Drug-induced elastosis perforans serpiginosa: This form is caused by the pharmacologic effect of D-penicillamine and occurs in approximately 1% of patients treated with the drug.

Pathophysiology

Elastosis perforans serpiginosa (EPS) may be a form of granulomatous inflammation that displays an unusual method for removing elastic tissue from the area of involvement.

Skin responds to threats to its integrity by foreign materials, such as bacteria, parasites, fungi, and misplaced native tissue elements (eg, hair), silica, beryllium, suture materials, through granulomatous inflammation.

The first stage of the granulomatous inflammation is the destruction of normal connective tissue. Then, an attack on the foreign material in the region ensues with waves of phagocytic histiocytes, often clumped into giant cells, moving in to engulf the foreign substances and debris. These phagocytic histiocytes carry away the foreign substances and debris, usually via vascular channels, but in the perforating diseases, via direct extrusion. The repair process follows close behind, with neovascularization and fibrosis. The duration of such a project is highly variable, often taking years to complete.

Frequency

United States

Elastosis perforans serpiginosa is a rare condition.

International

No geographic preferences are apparent for elastosis perforans serpiginosa.

Mortality/Morbidity

In most cases, cutaneous elastosis perforans serpiginosa is of cosmetic consequence only. A rare systemic version is fatal, in which abnormal elastic tissue is found in the walls of ruptured blood vessels and viscera.

Race

No racial differences have been reported for elastosis perforans serpiginosa.

Sex

Male-to-female ratio for elastosis perforans serpiginosa is approximately 4:1.

Age

Elastosis perforans serpiginosa usually appears during the second decade of life, but it may be seen in early childhood or late in life.

Duration: Elastosis perforans serpiginosa lasts a few years; however, in elastosis perforans serpiginosa cases associated with Down syndrome, elastosis perforans serpiginosa is a more prolonged and generalized eruption.

Clinical

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 3 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.^1,2 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.³
    • Perforating diseases that may occur in conjunction with elastosis perforans serpiginosa include reactive perforating collagenosis, perforating folliculitis, and Kyrle disease.⁴ 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 3 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.

Physical

• 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 2003.⁵ Another report from 2009 described a case induced by penicillamine therapy that occurred on the lip mucosa.⁶

Causes

• Elastic fibers are perceived by the skin to be abnormal and become the primary objects of an inflammatory attack. They may be abnormal as a result of genetic influence or penicillamine. Genetic abnormality does not explain the sporadic nature of elastosis perforans serpiginosa nor its spontaneous disappearance. Obviously, a secondary factor must be required to make elastic fibers provoke their own expulsion.
• In reports and reviews of elastosis perforans serpiginosa, the swollen, broken, and deformed elastic fibers always are clumped in the papillary dermis, making transepidermal elimination convenient. This finding suggests that the unknown secondary factor that denatures cutaneous elastic fibers may have its source outside the body.
  • Heat, light, or a traumatic event can be at fault.
  • In penicillamine-induced cases, proper cross-linkage formation has been observed to occur with the assistance of lysyl oxidase, which is a copper-dependent enzyme.⁷
  • Penicillamine is a copper chelator and may interfere with the function of lysyl oxidase and the proper construction of elastic fibers.

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