CLINICAL HISTORY:

Signs and symptoms:  MZ is a 52 y.o. F with a 20-year history of non-pruritic, gradually developing lesions on her left neck. The patient denies any previous treatment of these lesions.

Previous Treatment: 

Other information:  Current Medication: Vioxx

PHYSICAL EXAM:

Multiple, soft, yellow papules coalescing into plaques on left neck.

LABORATORY TESTS:

Punch biopsy was performed on left neck.

Complete Blood Count WNL
Chemistry Profile WNL
Liver Function Tests WNL
Thyroid Function Tests WNL
Lipid Profile WNL
HgbA1c WNL
Erythrocyte Sedimentation Rate 10
Anti-DNA Antibody negative
Antinuclear Antibody negative
Rapid Plasma Reagin nonreactive

DERMATOHISTOPATHOLOGY:

Microscopic description: In the middle and lower thirds of the dermis, accumulations of swollen and irregularly clumped elastic fibers with calcium deposition.
An accumulation of slightly basophilic mucoid material is seen.

DIFFERENTIAL DIAGNOSIS:

1.   Xanthomatosis
2.   Cutis Laxa
3.   Ehlers-Danlos
4.   Pseudoxanthoma Elasticum
5.   Papular Mucinosis

SCROLL DOWN FOR ANSWER AND DISCUSSION.

CORRECT DIAGNOSIS:

Pseudoxanthoma Elasticum

DISCUSSION:

Pseudoxanthoma Elasticum is a serious hereditary disorder of the connective tissue that primarily involves the elastic tissues of the skin, blood vessels, and eyes. The incidence is 1:40,000 to 1:160,000 and the age of onset is 20 -30 y.o. Most commonly the inheritance is autosomal recessive. Patients present with asymptomatic skin lesions, which often develop in childhood. Systemic complaints consist of decreased visual acuity, coronary artery disease and peripheral vascular disease.

Clinically, a peau d’ orange surface pattern is seen with, multiple, yellow, soft, papules which often coalesce into larger plaques. The skin is soft and lax and hangs in folds giving the appearance of “chicken skin”. Areas of involvement include neck, axillae, groin, abdomen, and thighs. Mucous membranes may be involved with yellow papules on the soft palate, rectum and vagina. Peripheral pulses may be decreased and eye findings include angioid streaks. For diagnosis, a biopsy of lesional skin, normal skin or a scar may be done. A biopsy of a scar may show changes of PXE before typical skin changes are evident.

TREATMENT:

There are currently no curative treatments. Genetic counseling and evaluation of all family members for PXE is standard. The patient’s obstetrician must be aware of the diagnosis. Referral to the appropriate specialist for w/u and f/u such as ophthalmology, GI, and cardiology is essential. Other treatments include avoidance of vitamin D3, dialysis, and nutritional restrictions including, calcium. Surgery may be considered for disfiguring cutaneous changes.

REFERENCES:

1) Fitzpatrick T, et al. Pseudoxanthoma Elasticum. Color Atlas and Synopsis of Clinical Dermatology; Third edition, 1997: 448-450.

2) Hammato y, Nagai K et al. Hyperactivity of PXE-Affected Dermis to Vitamin D3. Journal of the American Academy of Dermatology 2000; 42: 685-687.

3) Sapadin AN, Lebwohl MG et al. Periumbilical PXE associated with chronic renal failure and angiod streaks- apparent regression with hemodialysis. Journ of the Amer Acad of Dermatology 1998; 39: 338-444.

4) Sherer DW, Lebwohl MG. Pseudoxanthoma Elasticum: An update. Dermatology 1999; 199: 3-7.

Additional Comment:

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