Diffuse hepatocutaneous hemangiomatosis: an unusual presentation.

Autor: Velayos M; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., Estefanía-Fernández K; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., Muñoz-Serrano AJ; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., Delgado-Miguel C; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., Sarmiento Caldas MC; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., Moratilla L; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., Beato Merino MJ; Pathological Anatomy Department. La Paz University Hospital. Madrid (Spain)., Triana P; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain)., López-Gutiérrez JC; Pediatric Surgery Department. La Paz Pediatric Hospital. Madrid (Spain).
Jazyk: English; Spanish; Castilian
Zdroj: Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica [Cir Pediatr] 2022 Apr 01; Vol. 35 (2), pp. 99-101. Date of Electronic Publication: 2022 Apr 01.
DOI: 10.54847/cp.2022.02.20
Abstrakt: Introduction: Infantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional.
Clinical Case: 4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing.
Discussion: No explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this.
Databáze: MEDLINE
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