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Kod Orpha: 228247Kod OMIM:

Definicja

A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.

Dane
Klasyfikacja

Choroba

Synonimy
Acquired Gronblad-Strandberg-Touraine syndrome
Nabyte PXE
Nabyty zespół Gronblada, Strandberga i Touraine'a
Acquired PXE
Kod ORPHA
228247
Kod OMIM
-
Kod ICD10
L98.8
Kod ICD11
EE41.Y

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