Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome

被引：1

作者：

Sanchez-Espino, Luis Fernando ^{[1
,2
,8
,9
]}

Ivars, Marta ^{[1
,2
]}

Torres, Carolina Prat ^{[1
]}

Lavarino, Cinzia E. ^{[3
,4
]}

Olaciregui, Nagore Gene ^{[3
,4
]}

Zurriaga, Carlota Rovira ^{[2
,5
]}

Passini, Veronica P. Celis ^{[2
,4
]}

Serrano, Miguel Bejarano ^{[2
,6
]}

Baselga, Eulalia ^{[1
,2
,7
]}

机构：

[1] Barcelona Childrens Hosp St Joan De Deu, Dermatol Dept, Barcelona, Cataluna, Spain

[2] Barcelona Childrens Hosp St Joan De Deu, Multidisciplinary Vasc Anomalies Clin, Barcelona, Cataluna, Spain

[3] Barcelona Childrens Hosp St Joan De Deu, Mol Oncol Dept, Barcelona, Cataluna, Spain

[4] Barcelona Childrens Hosp St Joan De Deu, Oncol Dept, Barcelona, Cataluna, Spain

[5] Barcelona Childrens Hosp St Joan De Deu, Pathol Dept, Barcelona, Cataluna, Spain

[6] Barcelona Childrens Hosp St Joan De Deu, Surg Dept, Barcelona, Cataluna, Spain

[7] Passeig St Joan de Deu,2, Esplugas de Llobregat 08950, Barcelona, Spain

[8] Stollery Childrens Hosp, Dermatol Dept, Edmonton, AB, Canada

[9] Univ Alberta, Fac Med & Dent, Pediat Dept, Edmonton, AB, Canada

来源：

PEDIATRIC DERMATOLOGY | 2024年 / 41卷 / 05期

关键词：

CM-AVM syndrome; genetics; RASA1; gene; somatic mosaicism; vascular malformation; vascular tumor; MUTATION;

D O I：

10.1111/pde.15598

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.

引用

页码：861 / 865

页数：5

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