Dermatology: Practical and Conceptual Image Letter | Dermatol Pract Concept 2020;10(4):2020082 1 Dermatology Practical & Conceptual Case Presentation A Caucasian woman in her 40s, without relevant medical history, consulted the Dermatology Department for multiple bluish soft nodules on her tongue, lips, oral mucosa and perioral skin (Figure 1). The lesions had appeared during childhood and had grown progressively. She noted that her father had very similar lesions. An ultrasound showed venous malformation, and a diagnosis of familial cutaneomucosal venous malformations was made. Familial Cutaneomucosal Venous Malformations Juan Francisco Mir-Bonafé1, Marc Mir-Bonafé2, Jaime Piquero-Casals3, Eduardo Rozas-Muñoz4 1 Department of Dermatology, Hospital Son Llàtzer, Palma de Mallorca, Spain 2 Department of Dermatology, Hospital Universitario Central de Asturias, Oviedo, Spain 3 Department of Dermatology, Clínica Dermatológica Multidisciplinar Dermik, Barcelona, Spain 4 Department of Dermatology, Hospital de San Pablo, Coquimbo, Chile Key words: venous malformations, TIE2, cutaneomucosal venous malformations Citation: Mir-Bonafé JF, Mir-Bonafé M, Piquero-Casals J, Rozas-Muñoz E. Familial cutaneomucosal venous malformations. Dermatol Pract Concept. 2020;10(4):e2020082. DOI: https://doi.org/10.5826/dpc.1004a82 Accepted: May 1, 2020; Published: October 26, 2020 Copyright: ©2020 Mir-Bonafé et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License BY-NC-4.0, which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: None. Competing interests: The authors have no conflicts of interest to disclose. Authorship: All authors have contributed significantly to this publication. Corresponding author: Juan Francisco Mir-Bonafé, MD, Department of Dermatology, Hospital Son Llátzer, Carretera Manacor, PK4, Palma de Mallorca, Spain. Email: joanmirbonafe@gmail.com Figure 1. Multiple bluish soft nodules on the tongue, lips, oral mucosa, and perioral skin. 2 Image Letter | Dermatol Pract Concept 2020;10(4):2020082 der, Osler-Weber-Rendu syndrome, which is characterized by telangiectases resulting from arteriovenous malformations [2]. In doubtful cases, ultrasonography, MRI, a histopatho- logical study, and genetic assays may be needed. References 1. Shu W, Lin Y, Hua R, et al. Cutaneomucosal venous malformations are linked to the TIE2 mutation in a large Chinese family. Exp Dermatol. 2012;21(6):456- 457. DOI: 10.1111/10.1111/j.1600-0625.2012.01492.x. PMID: 22621187. 2. Orizaga-Y-Quiroga TL, Villarreal-Martínez A, Jaramil- lo-Moreno G, Ocampo-Candiani J. Osler-Weber-Rendu syndrome in relation to dermatology. Actas Dermosi- filiogr. 2019;110(7):526-532. DOI: 10.1111/10.1016/j. ad.2018.11.007. Teaching Point Familial cutaneomucosal venous malformations are the result of a germline mutation in the TIE2 receptor, with an autoso- mal dominant pattern of inheritance [1]. They usually present as multiple lesions that often appear from birth or during childhood and tend to grow throughout life. Even though they can be present in any location, they are more frequent on the face, with special predilection for the oral mucosa, lips and tongue. Rarely, they affect intestinal or anal mucosa. Venous malformations affecting the lips, tongue, or oral mucosa are rare. A diagnosis is based primarily on clinical findings. The differential diagnosis includes vascular tumors such as infantile hemangioma and pyogenic granuloma, venous lake, and other vascular malformations such as arte- riovenous or lymphatic ones. The lips, tongue, buccal mucosa may be involved in another rare autosomal dominant disor-