5 November 2014 - Case of the Week #332
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January 19-23, 2015
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Tutorial on Neoplastic Hematopathology
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Case of the Week #332
Clinical History:
A 32 year old man had multiple, yellowish, waxy papules on both sides of the neck, which were biopsied. He also had angioid streaks in the retina.
Micro images:
What is your diagnosis?
Diagnosis:
Pseudoxanthoma elasticum of skin (Granbald-Strandberg syndrome)
Discussion:
Verhoeff's Van Gieson stain for elastic fibers was performed:
The lesion consists of clumped, irregular and occasionally swollen fibers in the mid- and lower dermis. The abnormal fibers are bright pink with an altered architecture, as they have lost their normal interlacing pattern. They may be faintly basophilic due to the presence of calcium. Verhoeff's Van Gieson stain for elastic fibers shows marked degeneration of fibers with a short and curled appearance. The Von Kossa stain (not shown) reveals calcium deposition.
Pseudoxanthoma elasticum is an autosomal recessive, sometimes autosomal dominant, inherited disorder due to mutations of ABCC/MRP6 gene at 16p13.1, coding for an ATP-binding protein, and causing degeneration and calcification of elastic fibers (Nat Genet 2000;25:228). It also affects the retina and arterial walls of the gastric mucosa, coronary arteries and large peripheral arteries. It appears to be related to generalized arterial calcification of infancy (Am J Hum Genet 2012;90:25).
Patients typically present in the second and third decades with multiple soft, yellowish, coalescing papules in the sides of the neck, axillae or groin. The affected skin appears loose and wrinkled ("plucked chicken" appearance). Angioid streaks of the optic fundi may lead to progressive vision impairment. Involvement of the arterial elastic fibers may lead to gastric hemorrhage, angina pectoris and intermittent claudication (Arch Pathol Lab Med 1978;102:298).
The differential diagnosis is broad, and includes cutis laxa, in which there is loss of the elastic tissue in the papillary and reticular dermis and the fibers are shortened, tapered and degenerate (Arch Dermatol 1965;92:373). Pseudoxanthoma elasticum-like papillary dermal elastolysis may appear similar, but occurs in elderly females and systemic lesions are absent. There is partial or complete elastolysis in the papillary dermis, but calcification is typically absent with normal collagen fibers (Br J Dermatol 1998;139:141). Late-onset focal dermal elastosis is characterized by normal elastic fibers in the mid- and deep dermis, with no evidence of calcification (Am J Dermatopathol 1999;21:381). Manifestations of pseudoxanthoma elasticum, including cutaneous lesions, angioid streaks and vascular calcification, have been identified in many hemolytic conditions including beta-thalassemia, sickle cell disease and hereditary spherocytosis (Br J Haematol 2003;122:852).
There is no current treatment for this systemic disorder, but drugs which permit premature termination codon read-through in the ABCC6 gene are being investigated (J Invest Dermatol 2013;133:2672).
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