CLINICAL HISTORY:

Signs and symptoms:  On a review of systems, patient admits to having had a number of laser surgeries to his eyes and has been legally blind since 1996. He reports his sister has similar problems with her eyes but her neck is normal in appearance. Upon further questioning, patient states he underwent triple bypass surgery two years ago.

Previous Treatment: 

Other information: 

PHYSICAL EXAM:

The patient’s neck bilaterally has multiple, confluent yellow colored papules.

LABORATORY TESTS:

Elevated cholesterol

DERMATOHISTOPATHOLOGY:

Microscopic description: The epidermis is normal and a grenz zone was noted. Fragmented, swollen, and irregularly clumped basophilic fibers are present in the middle and lower thirds of the dermis. The abnormal elastic fibers stain with routine hematoxylin-eosin because of calcium uptake by the fibers.

DIFFERENTIAL DIAGNOSIS:

1.   Solar elastosis
2.   Cutis Laxa
3.   Pseudoxanthoma elasticum
4.   Ehlers-Danlos Syndrome
5.   Perforating calcific elastosis

SCROLL DOWN FOR ANSWER AND DISCUSSION.

CORRECT DIAGNOSIS:

Pseudoxanthoma elasticum

DISCUSSION:

This case was presented to review the characteristic appearance of this relatively rare, inherited disorder involving the connective tissue of the skin, eye and cardiovascular system. Pseudoxanthoma elasticum (PXE), although usually transmitted in an autosomal recessive pattern, may occur as an autosomal dominant connective tissue disorder. Recent genetic studies have suggested PXE to be linked to mutations in the MRP6/ABCC6 gene, a member of the ABC transporter family. Angioid streaks are the characteristic retinal finding and are due to rupture in Bruch’s membrane secondary to elastic fiber defect. Retinal changes are found in 85% of PXE patients and precede skin changes. Skin findings are soft, yellow coalescing papules with underlying lax, redundant skin, the so called “plucked chicken skin” appearance. The sides of the neck, groin, and axillae are commonly affected. When a patient experiences both skin and eye changes it is called Gronblad-Strandberg syndrome. Patients occasionally experience involvement of the arteries of the gastric mucosa resulting in gastric hemorrhage. Cardiovascular complications include mitral valve prolapse, hypertension and accelerated coronary artery disease secondary to degeneration of the elastic fibers in the media of vessels. Patients are noted to have extensive calcification of peripheral arteries causing intermittent claudication.

TREATMENT:

No definitive therapy is available. There might be an
association between dietary calcium levels and severity of PXE and therefore patients should be counseled on limiting their calcium intake.

Actual treatment for this patient: Laser treatment for the angioid streaks. Patient has requested no treatment for his neck findings.

Other Treatment options: Plastic surgery is helpful for loose skin folds.

REFERENCES:

1. Sherer DW, Sapadin AN, Lewohl MG. Pseudoxanthoma elasticum: an update. Dermatology 1999; 3-7.

2. Lebwohl M, Neldner K, Pope M, et al. Classification of pseudoxanthoma elasticum: Report of a consensus conference. Journal of the American Academy of Dermatology 1994; 103-7.

3. Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatology 2001; 10(4); 221-8.

4. Spitz, Joel. Genodermatosis. Williams and Wilkins, 1996.

5. Ohtani T, Furukawa F. Pseudoxanthoma elasticum. J Dermatol 2002; 615-20.

Additional Comment:

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