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Acquired pseudoxanthoma elasticum

MedGen UID:
698082
Concept ID:
C1274759
Disease or Syndrome
Synonyms: Acquired Gronblad-Strandberg-Touraine syndrome; acquired Gronblad-Strandberg-Touraine syndrome; acquired pseudoxanthoma elasticum; acquired pseudoxanthoma elasticum (inherited or acquired); Acquired PXE; acquired PXE; localised acquired cutaneous pseudoxanthoma elasticum; localized acquired cutaneous pseudoxanthoma elasticum
SNOMED CT: Acquired pseudoxanthoma elasticum (403401007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016441
Orphanet: ORPHA228247

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Acquired pseudoxanthoma elasticum in Orphanet.

Recent clinical studies

Diagnosis

Lewis KG, Bercovitch L, Dill SW, Robinson-Bostom L
J Am Acad Dermatol 2004 Jul;51(1):1-21; quiz 22-4. doi: 10.1016/j.jaad.2004.03.013. PMID: 15243519
Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O
Br J Haematol 2003 Sep;122(5):852-4. doi: 10.1046/j.1365-2141.2003.04484.x. PMID: 12930400

Therapy

Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF
J Am Acad Dermatol 2011 May;64(5):873-8. Epub 2011 Mar 12 doi: 10.1016/j.jaad.2010.03.030. PMID: 21397982Free PMC Article

Prognosis

Tsomi K, Karagiorga-Lagana M, Fragodimitri C, Karabatsos F, Katsiki V
Eur J Haematol 1999 Nov;63(5):287-94. doi: 10.1111/j.1600-0609.1999.tb01130.x. PMID: 10580559

Clinical prediction guides

Tsomi K, Karagiorga-Lagana M, Fragodimitri C, Karabatsos F, Katsiki V
Eur J Haematol 1999 Nov;63(5):287-94. doi: 10.1111/j.1600-0609.1999.tb01130.x. PMID: 10580559

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