Elastosis
Perforans Serpiginosa
Elastosis perforans serpiginosa is classified as a perforating skin
disorder. This rare cutaneous eruption is believed to be caused by an abnormal
expulsion of fragmented elastic fibers from the dermis. The elastic fibers
penetrate the surface of the epidermis and manifest as an unusual serpiginous
eruption. It has been seen as an isolated finding but also can be seen in
association with many underlying conditions, including Down syndrome,
Ehlers-Danlos syndrome, and Marfan syndrome.
Clinical Findings: Elastosis perforans serpiginosa is a rare
cutaneous perforating skin disease. It is much more commonly seen in the young
adult population, and it has a significant male predominance, with a ratio of 4
: 1 to 5 : 1. The condition has been most often reported on the neck. The
eruption typically begins as small red papules with an excoriated or slightly
ulcerated surface. Initially, pruritus is the main symptom. Over time, the
papules coalesce into serpiginous, “wandering” eruptions. They can be annular
or semicircular. The rash runs a waxing and waning course, but most cases
resolve spontaneously with or without therapy. Resolution on average occurs
within 6 months, but cases lasting up to 5 years have been reported in the
literature. Most cases are solitary in nature. Patients with underlying Down
syndrome may have only one lesion or widespread cutaneous involvement. It has
been estimated that up to 1% of patients with Down syndrome will develop
evidence of this rash over the course of their lifetime. Approximately 33% of
cases of elastosis perforans serpiginosa are associated with an underlying
disorder (see box to right). An autosomal dominant pattern of
inheritance has been described in a small number of cases, independent of any
of the listed underlying conditions. The medication penicillamine has long been
known to cause abnormalities of elastic fibers, and use of this medication has
been shown to induce an eruption resembling elastosis perforans serpiginosa.
As the lesions progress, the
epidermis ulcerates in pinpoint regions and the underlying fragmentized and
abnormal elastic tissue extrudes. The areas may become more pruritic over time,
and occasionally they are slightly tender. Most are asymptomatic. The
appearance is most concerning for the patient and family members.
Histology: Abnormally fragmented eosinophilic elastic
tissue can be appreciated on routine hematoxylin and eosin staining. Special
elastic tissue stains can be used to better isolate and appreciate the elastic
tissue. Examination of biopsy specimens shows an isolated area of acanthotic
epidermis in which a passageway has formed. The passage begins in the
superficial dermis and leads to the surface of the epidermis. This is filled
with the abnormal elastic tissue, a few histiocytes, and an occasional giant
cell. Early biopsies can show a cap of keratin overlying the passageway.
Pathogenesis: The cutaneous eruption is caused by the transepidermal
extrusion of abnormally fragmented elastic fibers. The reason for the abnormality
in the elastic fibers has yet to be determined, except in those cases induced
by penicillamine. Penicillamine has been shown to disrupt proper formation of
elastic tissue. The abnormally formed fibers are then extruded from the dermis.
Treatment: Many therapies have been attempted, and their
use is anecdotal at best. There have been no randomized, prospective,
placebo-controlled trials for the treatment of this eruption. Many destructive
modalities have been attempted with varying success. Cryotherapy has the most
information to support its use, but ablative carbon dioxide lasers have also
been used with good results. No therapy is required, because these eruptions
almost always spontaneously remit.
