Pseudomyogenic hemangioendothelioma with bone and soft tissue involvement with favorable response to pamidronate: a case report and systematic review of the literature.

Pseudomyogenic hemangioendothelioma (PMH) can be a challenge for diagnosis and might be confused with other tumors, such as epithelioid sarcoma. Here we present a case and a systematic review of the literature to identify and discuss PMH treatment in primary bone involvement. A 25-year-old woman was referred for bone pain (10/10) in the left lower limb. Magnetic resonance imaging (MRI) showed multiple bone lesions (left femur, tibia, patella, ankle, and foot) with well-defined borders without signs of local aggressiveness. Positron Emission Tomography-Computed Tomography (PET-CT) showed multiple metabolic musculoskeletal lesions in the left lower limb. A CT scan-guided biopsy was performed. Histological and immunohistochemical findings confirmed the diagnosis of PMH. After treatment with intravenous pamidronate (90 mg/monthly), the patient had clinical improvement, mild pain 2/10 without the use of non-steroidal anti-inflammatory drugs or opiates. Follow-up was assessed by MRI and PET-CT. PET-CT showed metabolic resolution of most of the bone and muscular lesions and a significant improvement of the femoral lesion. MRI showed that the lesions in the left femur, tibia, and foot had a marked decrease in size without intravenous post-contrast enhancement and smaller lesions had disappeared. After a 3-year follow-up, PET-CT showed no metabolically active images. Literature review identified 31 records including 58 clinical cases of PMH with primary bone involvement and treatment description for qualitative analysis. Most lesions (69%) were treated by local excision or curettage. In addition, amputations were performed in a significant percentage of cases (20.7%). In the last years, mTOR inhibitors (n = 7) and anti-resorptive treatments (n = 4) were considered as alternative treatment options, especially in multifocal lesions.

Extensive progressive heterotopic ossification post-Covid-19 in a man.

Heterotopic ossification (HO) is the formation of extraskeletal bone in muscle and soft tissues and could be genetic or non-genetic. The classic presentation of non-genetic HO is in young adults with a clear history of local trauma, surgery or prolonged immobilization after spinal cord and traumatic brain injuries. Genetic HO has a significant clinical severity compared to non-genetic causes and includes fibrodysplasia ossificans progressiva (FOP). FOP is an extremely rare genetic skeletal disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites affecting skeletal muscles, fascia, tendons, and ligaments. Previously, it has been reported an association between SARS-CoV-2 infection (COVID-19) and HO or FOP exacerbation with unclear etiopathogenesis. The possible mechanisms could be prolonged immobilization and systemic inflammation. Here, we describe the case of a 55-year-old apparently healthy man who suffered from a severe SARS-CoV-2 infection after that he experienced an extensive and progressive heterotopic ossification around the shoulders, the elbows, the hip, the knees, and the ankles. Because of the clinical severity, the painful soft-tissue swelling, the progressive HO, and the bilateral congenital hallux valgus deformity, a late-onset atypical FOP was suspected. Nevertheless, no variant of clinical significance has been identified in the coding regions and splicing sites in the ACVR1 gene and no deletions and/or duplications have been identified in exonic regions.

Soft Tissue Sarcomas: Is Pre-operative Radiotherapy Associated With More Acute Wound Complications?

INTRODUCTION: Increased wound complication rates are attributed to the use of pre-operative radiotherapy. The purpose of this study is to evaluate the incidence of complications with or without pre-operative radiotherapy in our institution. METHODS: We retrospectively evaluated 48 adult patients with high-grade extremity soft tissue sarcoma. Twenty-two patients received pre-operative radiotherapy (group A) while 26 patients underwent initial surgery (group B). Complications were defined as major wound complications if they were severe enough to delay the delivery of adjuvant treatment (chemotherapy or radiotherapy) more than eight weeks after surgery or if their resolution required a new surgical intervention. RESULTS: Mean follow-up in group A and group B was 44.3 and 53.8 months, respectively. The incidence of complications of any grade in group A was 45.5% and 53.8% in group B (p: 0.566). Major wound complications in group A and group B occurred in 18% and 23% of the patients (p=0.630), respectively. All patients in group A completed local treatment - radiotherapy and surgery - in 66 days on average. In contrast, in group B post-operative radiotherapy was either delayed or suspended in four patients due to wound complications. This determined that 15.4% of the patients in group B did not receive the local treatment - surgery + radiotherapy - as planned. CONCLUSIONS: An increased risk of severe acute wound complications with the administration of pre-operative radiotherapy was not observed in patients with soft tissue sarcomas of the extremities. In addition, local treatment completion was not jeopardized with preoperative radiotherapy, as opposed to post-operative radiotherapy.

High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

Wnt/ß-catenin signaling is important for skeletal development and health. Eleven heterozygous gain-of-function missense mutations within the first ß-propeller of low-density lipoprotein receptor-related protein 5 (LRP5) are known to cause the autosomal dominant disorder called high bone mass (HBM). In 2019, different heterozygous LRP6 missense mutations were identified in two American families with the HBM phenotype but including absent lateral maxillary and mandibular incisors. We report a 19-year-old Argentinian man referred for "osteopetrosis" and nine years of generalized, medium-intensity bone pain and arthralgias of both knees. His jaw and nasal bridge were broad and several teeth were missing. Routine biochemical testing, including of mineral homeostasis, was normal. Urinary deoxypyridinoline and serum CTX were slightly increased. Radiographic skeletal survey showed diffusely increased radiodensity. DXA revealed substantially elevated BMD Z-scores. Digital orthopantomography confirmed agenesis of his maxillary and mandibular lateral incisors and his second left superior premolar. Cranial magnetic resonance imaging showed diffuse thickening of the calvarium and skull base, dilation of the sheath of the optic nerves containing increased fluid and associated with subtle stenosis of the optic canal, and narrow internal auditory canals. Mutation analyses identified a heterozygous indel mutation in exon 4 of LRP6 involving a single nucleotide change and 6-nucleotide deletion (c.678T>Adel679-684, p.His226Gln-del227-228ProPhe) leading to a missense change and 2-amino acid deletion that would compromise the first ß-propeller of LRP6. Experience to date indicates LRP6 HBM is indistinguishable from LRP5 HBM without mutation analysis, although in LRP6 HBM absence of adult lateral incisors may prove to be a unique feature.

Two cases of Gorham-Stout disease with good response to zoledronic acid treatment.

Gorham-Stout disease - also called vanishing bone syndrome - is a rare bone disease characterized by a progressive intra-osseous proliferation of non-neoplastic vascular tissue resulting in massive osteolysis. Here, we report two clinical cases of Gorham-Stout disease. Case 1: a 56-year-old woman with 20 years of history of pain and swell in elbows, ankles and wrist. Then she was diagnosed as systemic lupus erythematosus (SLE) with glomerulonephritis type III. After other pathologies were ruled out Gorham-Stout disease was diagnosed. Intravenous zoledronic acid (5 mg) was indicated and after third infusion a progressive improvement of pain, mobility and daily activities were observed. Case 2: a 70-years-old man with a history of pain and limited motion in the left shoulder without X-ray abnormality. Six months later pathological fracture in the left humerus occurred and after ruled out other pathologies Gorham-Stout disease was diagnosed. Intravenous zoledronic acid (5 mg) was indicated and a good response was observed after the first infusion. Nowadays just over 200 cases were reported. Gorham-Stout disease was reported in different bones, at different age presentation and severe physical deformities, disabilities, and life-threatening complications can occur. Two cases of Gorham-Stout disease with good response to zoledronic acid was reported in this article.

Osteomalacia por tumor secretor de FGF-23 / Ostemalacia due to a tumor secreting FGF-23

Se presenta un caso de osteomalacia oncogénica en un varón de 50 años, con fuertes dolores óseos y gran debilidad muscular durante 4 años. Tenía varias deformidades vertebrales dorsales en cuña, fracturas en ambas ramas iliopubianas y en una rama isquiopubiana, y una zona de Looser en la meseta tibial derecha. Se localizó un tumor de 2 cm de diámetro en el hueco poplíteo derecho mediante centellograma con octreótido marcado con tecnecio. El tumor fue extirpado quirúrgicamente. La microscopía mostró un tumor mesenquimático fosfatúrico, de tejido conectivo mixto. La inmunotinción demostró FGF-23. Hubo rápida mejoría, con consolidación de las fracturas pelvianas y de la pseudofractura tibial y normalización de las alteraciones bioquímicas.

A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years' duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Looser's zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.

Osteomalacia por tumor secretor de FGF-23 / Ostemalacia due to a tumor secreting FGF-23

Se presenta un caso de osteomalacia oncogénica en un varón de 50 años, con fuertes dolores óseos y gran debilidad muscular durante 4 años. Tenía varias deformidades vertebrales dorsales en cuña, fracturas en ambas ramas iliopubianas y en una rama isquiopubiana, y una zona de Looser en la meseta tibial derecha. Se localizó un tumor de 2 cm de diámetro en el hueco poplíteo derecho mediante centellograma con octreótido marcado con tecnecio. El tumor fue extirpado quirúrgicamente. La microscopía mostró un tumor mesenquimático fosfatúrico, de tejido conectivo mixto. La inmunotinción demostró FGF-23. Hubo rápida mejoría, con consolidación de las fracturas pelvianas y de la pseudofractura tibial y normalización de las alteraciones bioquímicas.(AU)

A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Loosers zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.(AU)

[Ostemalacia due to a tumor secreting FGF-23]. / Osteomalacia por tumor secretor de FGF-23.

A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years' duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Looser's zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.

Osteomalacia por tumor secretor de FGF-23. / [Ostemalacia due to a tumor secreting FGF-23].

A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Loosers zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.

La extensión del infarto de miocardio medido por resonancia magnética con realce tardío de gadolinio se correlaciona con el deterioro de la función del ventrículo izquierdo / The extent of myocardial infarction determined by magnetic resonance imaging correlates with an impared function of the left ventricle

La resonancia magnética cardíaca (RMC) es una técnica con alta resolución espacial que puede medir con exactitud elgrado de extensión del infarto de miocardio con técnica de realce tardío con gadolinio. La medición de la extensión delinfarto de miocardio es importante para determinar el grado de viabilidad del miocardio. El objetivo de este estudio fuedeterminar si la extensión del infarto de miocardio medido por RMC se asocia al grado de disfunción sistólica delventrículo izquierdo. En 13 pacientes se midió la extensión del infarto de miocardio por RMC determinado el grado detransmuralidad del infarto en un modelo de 17 segmentos. La fracción de eyección fue de 35 ± 12 y el tamaño promediodel infarto de miocardio fue de 34 ± 15 del total de la masa del ventrículo izquierdo. La extensión de infarto secorrelacionó con el grado de disfunción del ventrículo izquierdo (-0,77, p= 0,013). En conclusión, identificamos unacorrelación inversa entre la extensión de infarto de miocardio y el grado de disfunción del ventrículo izquierdo. La RMCes una técnica útil para determinar el grado de viabilidad del miocardio y el grado de disfunción del ventrículo izquierdodespués de un infarto de miocardio.

Apendicitis crónica en apéndice invaginado / Chronic appendicitis and complete appendiceal invagination. UC, CT and MRI findings

La invaginación apendicular es una rara entidad, y cuando se diagnostica generalmente se encuentra alguna causa predisponente asociada. (ej. tumores, mucoceles, etc.). Se presenta el caso de una paciente de sexo femenino, de 61 años de edad, que fue estudiada por presentar dolor abdominal recurrente, localizado en la fosa ilíaca derecha. Se realizaron varios estudios, colon por enema, colonscopía, tránsito de intestino delgado, ecografía, tomografía computada y resonancia magnética. Posteriormente la cirugía, y finalmente la anatomía patológica, confirmaron el diagnóstico de una invaginación apendicular, complicada con un proceso inflamatorio crónico. No se encontró causa apendicular que predisponga a la invaginación. La invaginación apendicular y la apendicitis crónica son infrecuentes, y más aún, su asociación. Además, en esta paciente no se halló ninguna lesión predisponente. Por estos motivos, creemos que se trata de una forma de presentación inusual de la invaginación apendicular, no comunicada hasta el momento actual

Apendicitis crónica en apéndice invaginado / Chronic appendicitis and complete appendiceal invagination. UC, CT and MRI findings

La invaginación apendicular es una rara entidad, y cuando se diagnostica generalmente se encuentra alguna causa predisponente asociada. (ej. tumores, mucoceles, etc.). Se presenta el caso de una paciente de sexo femenino, de 61 años de edad, que fue estudiada por presentar dolor abdominal recurrente, localizado en la fosa ilíaca derecha. Se realizaron varios estudios, colon por enema, colonscopía, tránsito de intestino delgado, ecografía, tomografía computada y resonancia magnética. Posteriormente la cirugía, y finalmente la anatomía patológica, confirmaron el diagnóstico de una invaginación apendicular, complicada con un proceso inflamatorio crónico. No se encontró causa apendicular que predisponga a la invaginación. La invaginación apendicular y la apendicitis crónica son infrecuentes, y más aún, su asociación. Además, en esta paciente no se halló ninguna lesión predisponente. Por estos motivos, creemos que se trata de una forma de presentación inusual de la invaginación apendicular, no comunicada hasta el momento actual (AU)