Page 107 - The Netter Collection of Medical Illustrations - Integumentary System_ Volume 4 ( PDFDrive )

Plate 4-22 Rashes

ELASTOSIS PERFORANS
SERPIGINOSA Elastosis perforans serpiginosa. This unusual
skin finding is often associated with Down
syndrome, osteogenesis imperfecta, and Marfan
Elastosis perforans serpiginosa is classified as a per- syndrome. Isolated idiopathic cases may
forating skin disorder. This rare cutaneous eruption also occur.
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 mani-
fest as an unusual serpiginous eruption. It has been
seen as an isolated finding but also can be seen in asso-
ciation with many underlying conditions, including Associations with Elastosis Perforans Serpiginosa
Down syndrome, Ehlers-Danlos syndrome, and Marfan
syndrome. Acrogeria
Clinical Findings: Elastosis perforans serpiginosa is Chronic renal failure
a rare cutaneous perforating skin disease. It is much Down syndrome
more commonly seen in the young adult population,
and it has a significant male predominance, with a ratio Ehlers-Danlos syndrome
of 4 : 1 to 5 : 1. The condition has been most often Marfan syndrome
reported on the neck. The eruption typically begins as Medications—penicillamine
small red papules with an excoriated or slightly ulcer- Osteogenesis imperfecta
ated surface. Initially, pruritus is the main symptom. Pseudoxanthoma elasticum
Over time, the papules coalesce into serpiginous, “wan- Rothmund-Thomson syndrome
dering” eruptions. They can be annular or semicircular. Scleroderma
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 Dense connective tissue
a small number of cases, independent of any of the
listed underlying conditions. The medication penicil-
lamine has long been known to cause abnormalities of Longitudinal bundles
elastic fibers, and use of this medication has been shown of collagen and
to induce an eruption resembling elastosis perforans elastic fibers
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 appear-
ance is most concerning for the patient and family
members. Fibroblast Transverse fibers of
Histology: Abnormally fragmented eosinophilic nuclei loose connective tissue
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 elastic fibers. The reason for the abnormality in the no randomized, prospective, placebo-controlled trials
formed. The passage begins in the superficial dermis elastic fibers has yet to be determined, except in those for the treatment of this eruption. Many destructive
and leads to the surface of the epidermis. This is filled cases induced by penicillamine. Penicillamine has been modalities have been attempted with varying success.
with the abnormal elastic tissue, a few histiocytes, and shown to disrupt proper formation of elastic tissue. The Cryotherapy has the most information to support
an occasional giant cell. Early biopsies can show a cap abnormally formed fibers are then extruded from the its use, but ablative carbon dioxide lasers have also
of keratin overlying the passageway. dermis. been used with good results. No therapy is required,
Pathogenesis: The cutaneous eruption is caused by Treatment: Many therapies have been attempted, because these eruptions almost always spontaneously
the transepidermal extrusion of abnormally fragmented and their use is anecdotal at best. There have been remit.

THE NETTER COLLECTION OF MEDICAL ILLUSTRATIONS 93