Manifestación clínica inicial de la lipomatosis epidural lumbar grado III de Naka: serie de casos / Initial clinical signs of Naka's grade III lumbar epidural lipomatosis: A case series

Introducción: La lipomatosis epidural espinal es una enfermedad infrecuente caracterizada por el sobrecrecimiento del tejido adiposo no encapsulado dentro del espacio epidural. Esto genera una estenosis del conducto espinal que puede provocar sintomatología compresiva. La presentación típica es insidiosa a lo largo de meses o años. El objetivo de este estudio fue realizar un análisis descriptivo de la manifestación clínica inicial en pacientes con lipomatosis epidural espinal grado III de Naka. Materiales y métodos: Estudio observacional retrospectivo en la Unidad de Patología Espinal de 4 instituciones, de 2010 a 2023. Se incluyó a pacientes >18 años, de ambos sexos, que acudieron por dolor lumbar con irradiación o sin irradiación, y presentaban lipomatosis lumbar Naka III en la resonancia magnética. Resultados: Se incorporó a 40 pacientes (edad promedio 62.5 años). El 75% era obeso, ninguno era fumador. El motivo de consulta más frecuente fue lumbalgia, con una mediana de evolución del dolor de 5.5 meses. Conclusiones:La lumbalgia fue la consulta más frecuente, con excepción del compromiso de L3-S1 que fue la lumbocruralgia. Los pacientes que sufrieron dolor más tiempo (>6 meses) eran más jóvenes y tenían un índice de masa corporal menor; sin embargo, no resultó estadísticamente significativo. Nivel de Evidencia: IV

Introduction: Spinal epidural lipomatosis (SEL) is a rare pathology characterized by the overgrowth of nonencapsulated adipose tissue within the epidural space. This generates spinal stenosis, which might result in compression symptoms. The typical presentation is insidious pain that lasts months or years. The objective of this study was to carry out a descriptive analysis of the initial clinical signs of patients with Naka's grade III lumbar SEL. materials and methods: Retrospective observational study in the Spinal Pathology Unit of 4 institutions, from 2010 to 2023. Patients over the age of 18, of both sexes, who consulted for low back pain with or without radiation and presented Naka's grade III lumbar lipomatosis on magnetic resonance imaging (MRI) were included. Results: We included 40 patients, with a mean age of 62.5 years; 75% were obese, there were no smokers. The most frequent reason for consultation was low back pain, with a median duration of 5.5 months. Conclusions: The most common reason for consultation was low back pain, with the exception of L3-S1 level involvement, which caused lumbar pain with radiation to the thigh. Patients with a longer period of pain (>6 months) were younger and had a lower BMI; although this was not statistically significant. Level of Evidence: IV

Nevo lipomatoso cutáneo superficial / Superficial cutaneous lipomatous nevus

RESUMEN El nevo lipomatoso cutáneo superficial es un nevo o hamartoma del tejido conectivo, idiopático, caracterizado por tumoraciones lobuladas del color de la piel, únicas o múltiples, con cierta predilección por la cintura pélvica; su aparición es poco frecuente. Histológicamente se destaca la presencia de células grasas maduras localizadas ectópicamente en la dermis. Se presentó un paciente de 40 años de edad con lesión en la piel de la región glútea derecha desde niño. Al examen dermatológico presentaba lesiones papulonodulares múltiples, de color de la piel, de tamaño variable, de consistencia blanda, localizadas en la nalga derecha. Se le realizó exéresis y biopsia de piel de lesión papulonodular de mayor tamaño, con diagnóstico histopatológico de nevo lipomatoso cutáneo superficial.

ABSTRACT A superficial cutaneous lipomatous nevus is an idiopathic connective tissue nevus or hamartoma characterized by single or multiple lobulated skin-colored tumors with a certain predilection for the pelvic girdle; its appearance is rare. Histologically, the presence of mature fat cells located ectopically in the dermis stands out. We present a 40-year-old male patient with a skin lesion of the right gluteal region since he was a child. On dermatological examination, he had multiple, skin-colored, papulonodular lesions of variable size and soft consistency located on the right buttock. Exeresis and skin biopsy of a larger papulonodular lesion were performed, with histopathological diagnosis of superficial cutaneous lipomatous nevus.

Caecal appendix lipomatosis in a pregnant patient mimicking acute appendicitis.

A 34-years-old pregnant woman admitted in the emergency unit complaining about worsening right iliac fossa pain for 2 days. Acute appendicitis was the suspected diagnosis. Laboratory exams were ordered and results were within normal limits for infectious and inflammatory aspects. Ultrasound scan revealed a pregnancy in course without alterations and a thickness of the appendix wall without inflammatory signs in the surrounding tissue. Because the suspicion of acute appendicitis remained, a magnetic resonance was done and confirmed the diagnosis of a cecal appendix lipomatosis.

Lipomatosis intestinal: reporte de dos casos / Intestinal lipomatosis: Report of two cases

Resumen La lipomatosis intestinal es un término utilizado para describir una proliferación de tejido graso, histológicamente normal, en el tracto gastrointestinal. Se caracteriza por la presencia de tumores benignos, asintomáticos, de crecimiento lento y de origen subepitelial. En raras ocasiones, estos tumores pueden ser sintomáticos y asociarse a complicaciones importantes como obstrucción y sangrado gastrointestinal. Así, la lipomatosis intestinal es una patología rara, con pocos casos reportados en la literatura y ninguno registrado en Colombia. A continuación, presentamos dos casos evaluados y seguidos en nuestro servicio de Unión de Cirujanos S.A.S de la Universidad de Caldas. El primero es el caso de un hombre de 70 años con historia de episodios de dolor abdominal tipo cólico, asociados a distensión y diarrea posprandial. La endoscopia digestiva alta inicial reportó múltiples lesiones amarillentas, submucosas, en el duodeno, con diagnóstico histológico de lipomas. En este caso, se realizó una videocápsula endoscópica para determinar la distribución y las características de las lesiones presentes en todo el tracto gastrointestinal, así como para valorar la presencia de complicaciones. El otro caso es el de un hombre de 81 años, quien ingresó a la institución por lipotimia y sangrado rectal. Por tanto, se realizó una endoscopia alta y una colonoscopia, cuyos resultados fueron normales. Luego de ello, se efectuó una videocápsula endoscópica que mostró lesiones lipomatosas; una de ellas, con sangrado y angiodisplasia al lado. Estas lesiones se manejaron mediante enteroscopia de doble balón y terapia con argón plasma.

Abstract Intestinal lipomatosis is a proliferation of histologically normal fatty tissue in the gastrointestinal tract. It is characterized benign, asymptomatic, slow growing tumors with sub-epithelial origins. On rare occasions, they become symptomatic and can be associated with major complications such as gastrointestinal obstructions and bleeding. This rare pathology has been reported several times in the literature but not in Colombia prior to this study. We present two cases that were evaluated and followed up at the Unión de Cirujanos SAS and the University of Caldas in Manizales, Colombia. The first is a 70-year-old man who had a history of colic associated with bloating and postprandial diarrhea. The initial upper digestive endoscopy reported multiple yellowish, submucosal lesions in the duodenum. His histological diagnosis was lipomas. In this case, an endoscopic video capsule determined the distribution and characteristics of the lesions throughout the gastrointestinal tract and assessed complications. The second is an 81-year-old man who entered the institution due to lipothymia and rectal bleeding. Upper endoscopy and colonoscopy were normal, but a videocapsule endoscopy showed lipomatous lesions one of which was bleeding and had adjacent angiodysplasia. He was treated with double balloon enteroscopy and Argon plasma therapy.

Lipomatosis gástrica: reporte de un caso / Gastric lipomatosis: a case report

Resumen La lipomatosis gástrica es una enfermedad infrecuente caracterizada por múltiples lesiones tumorales benignas (lipomas), que acorde a su tamaño pueden producir una variedad de síntomas. Por lo general, la enfermedad es documentada incidentalmente en estudios imagenológicos que se realizan para estudiar otras enfermedades y los hallazgos patológicos contribuyen a tener una certeza en el diagnóstico de esta patología. Por el momento, no hay un tratamiento definido para las masas pequeñas y asintomáticas, mientras que para las masas grandes (> 3-4 cm) o sintomáticas se sugiere la resección quirúrgica de las lesiones.

Abstract Gastric lipomatosis is a rare disease characterized by multiple lipomas, benign tumors which can produce a variety of symptoms according to their size. In general, the disease is incidentally documented in imaging studies done to study other diseases. Pathological findings can contribute to the certainty of diagnosis. At the moment, there is no definite treatment for small, asymptomatic masses, but surgical resection is suggested for masses that are larger than 3 or 4 cm and for those that are symptomatic.

Caecal appendix lipomatosis in a pregnant patient mimicking acute appendicitis / Lipomatose do apêndice cecal em paciente grávida mimetizando apendicite aguda

ABSTRACT A 34-years-old pregnant woman admitted in the emergency unit complaining about worsening right iliac fossa pain for 2 days. Acute appendicitis was the suspected diagnosis. Laboratory exams were ordered and results were within normal limits for infectious and inflammatory aspects. Ultrasound scan revealed a pregnancy in course without alterations and a thickness of the appendix wall without inflammatory signs in the surrounding tissue. Because the suspicion of acute appendicitis remained, a magnetic resonance was done and confirmed the diagnosis of a cecal appendix lipomatosis.

RESUMO Paciente de 34 anos, do sexo feminino, grávida, chega ao pronto-socorro com queixa de dor na fossa ilíaca direita piorando nos últimos 2 dias com suspeita de apendicite aguda. Foram solicitados exames laboratoriais, que estavam dentro dos limites de normalidade para aspectos infecciosos e inflamatórios. Exame de imagem também foi solicitado, sendo a ultrassonografia o método de escolha, que revelou gravidez em curso sem alterações e espessura da parede do apêndice sem sinais inflamatórios. Ainda com suspeita de apendicite aguda, foi realizada ressonância magnética, confirmando a hipótese de lipomatose do apêndice cecal.

Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.

BACKGROUND Encephalocraniocutaneous lipomatosis is a rare neurocutaneous disorder characterized by cutaneous, ocular, and central nervous system anomalies; its molecular etiology was recently identified. This report describes the surgical treatment and genetic characterization of a giant ocular lipodermoid cyst secondary to encephalocraniocutaneous lipomatosis. CASE REPORT An 11-year-old girl with past medical history of absence seizures presented with a reddish protruding mass in her right eye involving the temporal conjunctiva and the peripheral temporal cornea; eyelid closure was not possible due to mass protrusion. She also presented skin tags at the level of the external canthus and 3 alopecic areas at the level of the scalp compatible with nevus psiloliparus. No family history was reported. A dermoid cyst was suspected and excisional biopsy was performed under general anesthesia. A large conjunctival and lamellar corneoscleral resection was done, followed by a corneal tectonic graft. Molecular analysis was carried out, including PCR and Sanger sequencing on DNA obtained from the mass. After surgery, the patient achieved complete eyelid closure, reduction of ocular surface symptoms, and improved aesthetic appearance. Histological analysis confirmed a lipodermoid cyst; genetic tests confirmed a mosaic activating mutation in FGFR1 (c.1638C>A, p.Asn546Lys). The diagnosis was encephalocraniocutaneous lipomatosis. CONCLUSIONS ECCL is a rare condition; an accurate diagnosis comprising clinical and genetic aspects can facilitate the monitoring of possible complications, improve the multidisciplinary treatment, and provide valuable information for future therapy developments. In this case, the patient's quality of life improved significantly, ocular symptoms disappeared, and a good esthetic appearance was achieved.

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.

OBJECTIVE: To investigate the clinical, imaging and pathological features of congenital infiltrating lipomatosis of the face (CILF) and to discuss whether it is a subtype of hemifacial hyperplasia (HH). METHODS: Sixteen patients diagnosed with CILF were included in this study. All patients had undergone panoramic radiography and spiral CT examinations. Thirteen patients received biopsy, surgery treatment and pathological examination. The clinical documentation and imaging data were retrospectively reviewed. RESULTS: The cheeks (14/16), parotid glands (12/16), tongues (9/16), masticatory muscles (8/16) and the lips (7/16) were the most frequently affected soft tissue organs. The maxilla (14/16), zygoma (13/16), mandible (13/16) were involved among the maxillofacial bones. Dental malformations included macrodontia (8/16), poor formation of the roots (7/16), accelerated tooth germ development or premature eruption of permanent teeth (7/16) and missing of the permanent teeth (4/16). All malformations were restricted to one side of the face and did not trespass the middle line. Pathologically, CILF was featured by the diffuse infiltration of redundant mature adipose tissue into the tissue of the affected organ. CONCLUSION: CILF is a congenital developmental facial malformation characterized by infiltration of nonencapsulated, mature adipose tissue, resulting in facial soft and hard tissue hypertrophy and dental malformations in hemifacial structures. CILF could be considered as a subtype of HH.

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

BACKGROUND: Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo-cranio-cutaneous lipomatosis (ECCL), and Schimmelpenning-Feuerstein-Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies. METHODS: Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of KRAS, HRAS, NRAS, and FGFR1 genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low-level mosaicism. RESULTS: In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids. CONCLUSION: Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.

Incidental diagnosis of breast cancer in the pursuit of the treatment of intestinal obstruction

Intestinal lipomatosis is rare and often asymptomatic but can present with intestinal obstruction. Occasionally, metastatic breast cancer is identified in the ovary before a breast primary is discovered. We report the case of a 50-year-old woman diagnosed with synchronous intestinal obstruction due to lipomatosis, and incidental ovarian metastases from breast cancer. The patient presented with a 12-day history of nausea, diffuse abdominal pain, and constipation. An abdominal x-ray showed air-fluid levels, and computed tomography documented small bowel distention. An explorative laparotomy was performed, which revealed small bowel distention, an obstructive lesion of the ileocecal valve, three terminal ileum lesions, ascites, and heterogeneous ovaries. Right ileocolic resection and left oophorectomy were performed. The pathological diagnosis revealed lipomatous submucosal lesion of the ileocecal valve and ileum, and 17 lymph nodes, which were all negative for malignant cells. The oophorectomy revealed ovarian metastasis from breast carcinoma. Ascitic fluid was positive for malignant cells. Mammography and breast/axillary ultrasonography showed a solid nodule of the left breast, ductal carcinoma, and multiple enlarged left axillary lymph nodes, which were positive for neoplastic cells. Immunohistochemical evaluation showed hormonal receptor positivity and C-erb2 negativity. Breast magnetic resonance imaging showed a 14 mm left nodule and a positron emission tomography scan revealed 18F-FDG uptake in the left breast, left axillary lymph nodes, right ovary, and peritoneum. The tumor was staged as stage IV ductal breast carcinoma, cT1N1M1, Grade 2, Luminal B-like. The multidisciplinary oncological meeting proposed chemotherapy, and a re-staging breast MRI after chemotherapy, which showed a complete response. The patient started treatment with letrozole and remains disease-free 22 months after finishing chemotherapy.

Extensive renal sinus lipomatosis in xanthogranulomatous pyelonephritis simulating liposarcoma

ABSTRACT Renal replacement lipomatosis is a condition characterized by varying degrees of renal parenchymal atrophy and perirenal fibrofatty proliferation secondary to chronic inflammation such as xanthogranulomatous pyelonephritis. In severe cases, imaging findings can be misdiagnosed as retroperitoneal liposarcoma.

Extensive renal sinus lipomatosis in xanthogranulomatous pyelonephritis simulating liposarcoma.

Renal replacement lipomatosis is a condition characterized by varying degrees of renal parenchymal atrophy and perirenal fibrofatty proliferation secondary to chronic inflammation such as xanthogranulomatous pyelonephritis. In severe cases, imaging findings can be misdiagnosed as retroperitoneal liposarcoma.