Pseudoxanthoma elasticum-like skin lesions with congenital erythropoietic porphyria

2014 ◽  
Vol 24 (3) ◽  
pp. 401-402 ◽  
Author(s):  
Yoshiko Mine ◽  
Akira Iwanaga ◽  
Susumu Ikehara ◽  
Yuta Koike ◽  
Noboru Takamura ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Congenital Erythropoietic Porphyria

Dermoscopic phenotype of pseudoxanthoma elasticum skin lesions: a study of 16 patients

2019 ◽  
Vol 33 (7) ◽  
Author(s):  
C. Berthin ◽  
A. Phan ◽  
N. Navasiolava ◽  
S. Michalak ◽  
H. Humeau ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Skin Lesions

Pseudoxanthoma elasticum-like skin lesions and angioid streaks in β-thalassemia

1992 ◽  
Vol 41 (3) ◽  
pp. 159-164 ◽  
Author(s):  
Athanasios Aessopos ◽  
Panayotis Savvides ◽  
George Stamatelos ◽  
Thomas Tassiopoulos ◽  
Phaedon Kaklamanis ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Angioid Streaks

scholarly journals High-frequency (20-50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions

2013 ◽  
Vol 169 (6) ◽  
pp. 1233-1239 ◽  
Author(s):  
M. Guérin-Moreau ◽  
G. Leftheriotis ◽  
Y. Le Corre ◽  
M. Etienne ◽  
R. Amode ◽  
...  
Keyword(s):  
High Frequency ◽  
Pseudoxanthoma Elasticum ◽  
Skin Lesions

scholarly journals Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

Biomedicines ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 1895
Author(s):  
Max Jonathan Stumpf ◽  
Nadjib Schahab ◽  
Georg Nickenig ◽  
Dirk Skowasch ◽  
Christian Alexander Schaefer
Keyword(s):  
Current Knowledge ◽  
Treatment Options ◽  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Arterial Calcification ◽  
Future Perspectives ◽  
Strong Inhibitor ◽  
New Therapeutic Approaches ◽  
Pathogenic Variants ◽  
Abcc6 Gene

Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset arterial calcification accompanied by a severe reduction in quality-of-life. Underlying the pathology are recessively transmitted pathogenic variants of the ABCC6 gene, which results in a deficiency of ABCC6 protein. This results in reduced levels of peripheral pyrophosphate, a strong inhibitor of peripheral calcification, but also dysregulation of blood lipids. Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them. In this review, we summarize the broad spectrum of treatment options for PXE, focusing on currently available clinical options, the latest research and development, and future perspectives.

Multiple keratoacanthomas arising on skin lesions of pseudoxanthoma elasticum

2002 ◽  
Vol 16 (5) ◽  
pp. 533-534 ◽  
Author(s):  
A Akar ◽  
H Bulent Tastan ◽  
A Ozcan ◽  
H Erbil ◽  
A Riza Gur
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Skin Lesions

scholarly journals Cutaneous elastorrhexis; A Heralding Sign of Gronblad-Strandberg Syndrome: A Case Report

2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Ravindranath Brahmadeo Chavan ◽  
Nitika S Deshmukh ◽  
Vasudha Abhijit Belgaumkar ◽  
Vijay Raut
Keyword(s):  
Autosomal Recessive Disorder ◽  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Lateral Side ◽  
Systemic Complications ◽  
Case Presentation ◽  
Skin Changes ◽  
Clinical Criteria ◽  
Heritable Disorder ◽  
Life Threatening

Introduction: Pseudoxanthoma Elasticum (PXE), also called Gronblad-Strandberg syndrome, is an autosomal recessive disorder due to mutation in the ABCC6 allele on chromosome 16p. It is characterized by the progressive fragmentation and calcification of elastin fibers of the dermis, blood vessels, and Bruch’s membrane of the eye. In this article, the authors present a case of PXE with cutaneous elastorrhexis. Case Presentation: A 31-year-old female presented with skin changes in the form of yellowish linearly arranged papules over the lateral side of the neck and anterior abdomen since adolescence. Her retinoscopy and cardiovascular examinations were reported as normal. The molecular analysis could not be done due to financial limitations. Based on these findings, the patient was suspected of PXE according to the revised criteria for the diagnosis of PXE. Conclusions: Skin lesions are generally first to appear in adolescence. Ocular findings develop at later ages, i.e., third or fourth decades. Cardiovascular manifestations develop later in life. Hence, skin changes can aid in the early diagnosis of PXE and help clinicians to screen patients for systemic complications. Being a multisystem heritable disorder with morbidity and mortality, there is a need to formulate the clinical criteria for definitive diagnosis in resource-poor settings where molecular assays cannot be performed. The recognition of typical skin lesions can aid in the accurate diagnosis to facilitate the early detection and management of life-threatening systemic complications.

Diagnosis of Pseudoxanthoma Elasticum by Scar Biopsy in Patients without Characteristic Skin Lesions

1987 ◽  
Vol 317 (6) ◽  
pp. 347-350 ◽  
Author(s):  
Mark Lebwohl ◽  
Robert G. Phelps ◽  
Lawrence Yannuzzi ◽  
Stanley Chang ◽  
Ira Schwartz ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Skin Lesions
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