Acrogeria, an exceptional cause of acro-osteolysis

被引：0

作者：

Valayer, Simon ^{[1
]}

Hickman, Geoffroy ^{[1
]}

Petit, Antoine ^{[1
]}

Solal, Martine Cohen ^{[3
]}

Giovannoli, Annachiara De Sandre ^{[4
]}

Bourrat, Emmanuelle ^{[1
,2
]}

机构：

[1] St Louis Hosp, Dept Dermatol, Paris, France

[2] St Louis Hosp, CRMR MAGEC Paris Nord, Paris, France

[3] Lariboisiere Hosp, Dept Rheumatol, Paris, France

[4] Timone Hosp, Dept Med Genet, Marseille, France

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2024年 / 49卷 / 02期

关键词：

LAMIN;

D O I：

10.1093/ced/llad360

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

This case report presents a previously unreported mutation in the LMNA gene associated with acrogeria, highlighting a distinct entity within the spectrum of laminopathies. Considering acrogeria as a potential diagnosis should be taken into account for patients with early-onset acro-osteolysis.

引用

页码：206 / 208

页数：3

共 50 条

[1] ACRO-OSTEOLYSIS
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