La telangiectasia hemorrágica hereditaria (THH) o síndrome Rendu Osler Weber es un trastorno autosómico dominante que lleva a la formación anormal de vasos sanguíneos y se manifiesta como telangiectasias y malformaciones arteriovenosas en piel y órganos internos. Mujer de 72 años con antecedentes de hipertensión arterial, anemia ferropénica e hipertensión pulmonar en tratamiento. Es derivada a dermatología por la presencia durante años de lesiones asintomáticas en cara y manos. Refiere 4 episodios de epistaxis durante su vida y no tiene historia familiar de patologías dermatológicas. Al examen se observan múltiples máculas eritemato-violáceas, con vitropresión positiva, algunas conformadas por telangiectasias, localizadas en la región malar, frente, lengua y ambas palmas. Se excluyó compromiso hepático, pero se encontraron lesiones vasculares en estómago y duodeno. Con estos antecedentes, se confirmó el diagnóstico de THH. La THH es un diagnóstico clínico basado en los criterios de Curaçao: epistaxis, telangiectasias, lesiones viscerales e historia familiar. Desde el punto de vista dermatológico, se presenta con telangiectasias en palmas, dedos, labios y lengua. Aunque la epistaxis u otras presentaciones pueden ser las manifestaciones más incapacitantes o peligrosas, las telangiectasias extranasales pueden ser más importantes para el paciente, llevándolo a consultar a dermatología. Los dermatólogos deben considerar este síndrome, a pesar de su baja incidencia reportada, debido a sus posibles complicaciones. El tratamiento es sólo paliativo, sin consenso sobre la mejor opción de manejo. Es esencial promover un control a largo plazo de la enfermedad
Background Lipomas are the most frequent benign tumor. They have been described as soft, well-defined, slow-growing palpable masses, and classified as deep or superficial. Purpose To present the clinical and ultrasound findings of herniated superficial subcutaneous lipoma (HSL), located in pressure/support areas, not previously described. Material and Methods A seven-year retrospective review was performed. Patients with a preoperative high-resolution ultrasound (HRUS) diagnosis of HSL archived in the computational system and histological study information were selected. Results A total of 37 patients (mean age = 46 years) were recruited. The clinical diagnoses were “lipoma” or “suspected lipoma” in just 46% of the cases. This was three times more frequent in women. Tumors were located mainly in the gluteal (38%) and proximal thigh areas (35%). Clinically, all patients showed small, soft, rounded skin nodules. On HRUS, they appear as lipomatous tumors that protruded, compressed, and thinned the covering dermal layer. The subcutaneous portion was bigger than the herniated part, with an iceberg image. Conclusion HSL in support areas have a special clinical ultrasound presentation, not previously described. It is important to recognize them for a proper diagnosis and treatment, especially because they clinically may present as small superficial lesions; however, they are associated with a larger subcutaneous portion (iceberg image). It is probable that an estrogen influence on the adipose tissue can be suspected because of the female predominance.
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