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Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies.
Hägerling, René; Van Zanten, Malou; Behncke, Rose Yinghan; Ulferts, Sascha; Hansmeier, Nils R; Märkl, Bruno; Witzel, Christian; Ho, Bernard; Keeley, Vaughan; Riches, Katie; Mansour, Sahar; Gordon, Kristiana; Ostergaard, Pia; Mortimer, Peter S.
Afiliação
  • Hägerling R; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Van Zanten M; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.
  • Behncke RY; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Academy, Clinician Scientist Program, Berlin, Germany.
  • Ulferts S; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Hansmeier NR; Molecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
  • Märkl B; Dermatology and Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Witzel C; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Ho B; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.
  • Keeley V; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Riches K; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.
  • Mansour S; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Gordon K; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.
  • Ostergaard P; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Academy, Clinician Scientist Program, Berlin, Germany.
  • Mortimer PS; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
JCI Insight ; 8(20)2023 Oct 23.
Article em En | MEDLINE | ID: mdl-37698920
Superficial erythematous cutaneous vascular malformations are assumed to be blood vascular in origin, but cutaneous lymphatic malformations can contain blood and appear red. Management may be different and so an accurate diagnosis is important. Cutaneous malformations were investigated through 2D histology and 3D whole-mount histology. Two lesions were clinically considered as port-wine birthmarks and another 3 lesions as erythematous telangiectasias. The aims were (i) to demonstrate that cutaneous erythematous malformations including telangiectasia can represent a lymphatic phenotype, (ii) to determine if lesions represent expanded but otherwise normal or malformed lymphatics, and (iii) to determine if the presence of erythrocytes explained the red color. Microscopy revealed all lesions as lymphatic structures. Port-wine birthmarks proved to be cystic lesions, with nonuniform lymphatic marker expression and a disconnected lymphatic network suggesting a lymphatic malformation. Erythematous telangiectasias represented expanded but nonmalformed lymphatics. Blood within lymphatics appeared to explain the color. Blood-lymphatic shunts could be detected in the erythematous telangiectasia. In conclusion, erythematous cutaneous capillary lesions may be lymphatic in origin but clinically indistinguishable from blood vascular malformations. Biopsy is advised for correct phenotyping and management. Erythrocytes are the likely explanation for color accessing lymphatics through lympho-venous shunts.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article