Pseudoxanthoma elasticum-like phenotypes: More diseases than one

被引：7
|
作者：
Uitto, Jouni
Jiang, Qiujie
机构：
[1] Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
[2] Thomas Jefferson Univ, Jefferson Inst Mol Med, Philadelphia, PA USA
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2007年 / 127卷 / 03期
关键词：
D O I：
10.1038/sj.jid.5700635
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
The classic pseudoxanthoma elasticum (PXE) phenotype derives from mutations in ABCC6. PXE-like phenotypes have been observed in a number of disorders, with no evidence of mutations in ABCC6. Vanakker et al. report PXElike skin findings in patients with mutations in GGCX critical for gamma-carboxylation of gla-proteins. This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process.
引用
收藏
页码：507 / 510
页数：5
相关论文
共 50 条
  • [31] Acquired pseudoxanthoma elasticum-like syndrome in β-thalassemia patients.
    Le Saux, O
    Hamlin, N
    Beck, K
    Bacchelli, B
    Cianciulli, P
    Pasquali-Ronchetti, I
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 562 - 562
  • [32] Dermoscopic findings of pseudoxanthoma elasticum-like papillary dermal elastolysis
    Hidetsugu Fukuda
    Hideki Mukai
    Ayako Otani
    Toshiaki Oharaseki
    Misaki Takahashi
    European Journal of Dermatology, 2017, 27 : 99 - 100
  • [33] A Helpful Clue to Calciphylaxis: Subcutaneous Pseudoxanthoma Elasticum-like Changes
    Chen, Eric L.
    Altman, Igor
    Braniecki, Marylee
    AMERICAN JOURNAL OF DERMATOPATHOLOGY, 2020, 42 (07) : 521 - 523
  • [34] Pseudoxanthoma elasticum-like papillary dermal elastolysis: A case report
    Jacquin-Porretaz, C.
    Aubin, F.
    Vibratte, F.
    Valmary, S.
    Petitjean, A.
    Algros, M-P
    Puzenat, E.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2020, 147 (03): : 194 - 197
  • [35] Pseudoxanthoma elasticum-like syndrome in a patient with sickle cell disease
    Bhardwaj, SS
    Glesne, L
    Bart, B
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2004, 50 (03) : P60 - P60
  • [36] Pseudoxanthoma Elasticum-Like in β-Thalassemia Major, a matter of α-Klotho and Parathyroid Hormone?
    Baldan, Alessandro
    Giusti, Andrea
    Bosi, Cristina
    Malaventura, Cristina
    Forni, Gianluca
    Borgna-Pignatti, Caterina
    HEMOGLOBIN, 2017, 41 (4-6) : 254 - 259
  • [37] Pseudoxanthoma elasticum-like papillary dermal elastolysis in frontal fibrosing alopecia
    Tengattini, Vera
    Alessandrini, Aurora
    Misciali, Cosimo
    Patrizi, Annalisa
    Piraccini, Bianca Maria
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2018, 16 (09): : 1136 - 1138
  • [38] Dermoscopical and pathological findings in pseudoxanthoma elasticum-like papillary dermal elastolysis
    Mercuri, Santo R.
    Cestone, Enza
    Bearzi, Pietro
    Rizzo, Nathalie
    Paolino, Giovanni
    GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA, 2020, 155 (05): : 692 - 693
  • [39] PSEUDOXANTHOMA ELASTICUM-LIKE PAPILLARY DERMAL ELASTOLYSIS - A REPORT OF 2 CASES
    ELCHARIF, MA
    MOUSAWI, AM
    RUBEIZ, NG
    KIBBI, AG
    JOURNAL OF CUTANEOUS PATHOLOGY, 1994, 21 (03) : 252 - 255
  • [40] Generalized Papular Granuloma Annulare Presenting With Pseudoxanthoma Elasticum-Like Lesions
    Calado, R.
    Figueiredo, C.
    Cardoso, J. C.
    Oliveira, H. S.
    ACTAS DERMO-SIFILIOGRAFICAS, 2023, 114 (09): : T839 - T840
12345