Abstract An 18-year-old female with Systemic Lupus Erythematosus (SLE) presented with bilateral thigh pain, fever, and diarrhea three days before admission. Diagnosed with SLE one month earlier, she reported prior symptoms, including joint pain, malar rash, hair loss, and hyperpigmented lesions. Initial investigations revealed elevated transaminase levels (AST 355, ALT 132), positive ANA, decreased complement levels (C3 68, C4 16.8), and raised creatine kinase (619). A muscle biopsy confirmed myositis. The patient was treated with immunosuppressant (a combination of steroids and hydroxychloroquine) and supportive therapy. By the eighth day of hospitalization, her symptoms, especially thigh pain, resolved. Electromyocardiography was done, and the results were normal, indicating therapeutic success. This case highlights the importance of prompt diagnosis and management of myositis as a rare SLE manifestation to achieve favorable outcomes.
Systemic Lupus Erythematosus (SLE) ; Myositis ; Muscle Biopsy ; Electromyocardiography

Duodenal leiomyosarcoma is a rare condition with a poor prognosis. Early diagnosis of duodenal leiomyosarcoma is challenging because it presents with nonspecific symptoms and endoscopic biopsies usually do not enable a definitive diagnosis. Duodenal leiomyosarcomas are diagnosed on the basis of the histopathological identification of a mesenchymal lesion composed of malignant tumor cells that on immunohistochemical examination is positive for smooth muscle actin and desmin. We report the case of a 38-year-old man who presented with gastrointestinal bleeding and obstruction who was diagnosed with duodenal leiomyosarcoma after surgical resection.
Actins ; Adult ; Biopsy ; Desmin ; Diagnosis ; Duodenal Obstruction ; Early Diagnosis ; Gastrointestinal Hemorrhage ; Hemorrhage ; Humans ; Leiomyosarcoma ; Muscle, Smooth ; Prognosis

BACKGROUND: Late-onset multiple acyl-coA dehydrogenase deficiency (MADD) is an autosomal recessive inherited metabolic disorder. It is still unclear about the muscle magnetic resonance image (MRI) pattern of the distal lower limb pre- and post-treatment in patients with late-onset MADD. This study described the clinical and genetic findings in a cohort of patients with late-onset MADD, and aimed to characterize the MRI pattern of the lower limbs. METHODS: Clinical data were retrospectively collected from clinic centers of Peking University People's Hospital between February 2014 and February 2018. Muscle biopsy, blood acylcarnitines, and urine organic acids profiles, and genetic analysis were conducted to establish the diagnosis of MADD in 25 patients. Muscle MRI of the thigh and leg were performed in all patients before treatment. Eight patients received MRI re-examinations after treatment. RESULTS: All patients presented with muscle weakness or exercise intolerance associated with variants in the electron transfer flavoprotein dehydrogenase gene. Muscle MRI showed a sign of both edema-like change and fat infiltration selectively involving in the soleus (SO) but sparing of the gastrocnemius (GA) in the leg. Similar sign of selective involvement of the biceps femoris longus (BFL) but sparing of the semitendinosus (ST) was observed in the thigh. The sensitivity and specificity of the combination of either "SO+/GA-" sign or "BFL+/ST-" sign for the diagnosis of late-onset MADD were 80.0% and 83.5%, respectively. Logistic regression model supported the findings. The edema-like change in the SO and BFL muscles were quickly recovered at 1 month after treatment, and the clinical symptom was also relieved. CONCLUSIONS This study expands the clinical and genetic spectrums of late-onset MADD. Muscle MRI shows a distinct pattern in the lower limb of patients with late-onset MADD. The dynamic change of edema-like change in the affected muscles might be a potential biomarker of treatment response.
Adolescent ; Adult ; Biopsy ; methods ; Carnitine ; analogs & derivatives ; blood ; Electron-Transferring Flavoproteins ; genetics ; Female ; Hamstring Muscles ; diagnostic imaging ; metabolism ; pathology ; Humans ; Iron-Sulfur Proteins ; genetics ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; diagnostic imaging ; genetics ; pathology ; Muscle, Skeletal ; diagnostic imaging ; metabolism ; pathology ; Oxidoreductases Acting on CH-NH Group Donors ; genetics ; Retrospective Studies ; Young Adult

Schwannoma is a slow-growing, well-demarcated, benign soft tissue tumor of the peripheral nerve sheath. It commonly develops in the head and neck region, usually in the parapharyngeal space. In this case, a 42-year-old woman visited the outpatient department to manage a painless mass on her left cheek. She had no history of concern and no neurological symptoms were observed. In the enhanced computed tomography scan, a 2.8 × 2.8 × 1.8 cm, heterogeneously enhanced tumor was detected in the left masseter muscle. A tumor resection under general anesthesia was planned. For the resection, a facelift incision was chosen; branches of the facial nerve were identified and retrogradely dissected. A well-marginated, yellowish, solid mass was found in the left masseter muscle. The mass was excised and given a histopathological diagnosis of schwannoma. A definite diagnosis of schwannoma, originating in the masseter muscle, is difficult to arrive at with radiographic findings alone; it is often misdiagnosed as intramuscular hemangioma. Histopathological examinations, including fine-needle aspiration or histological biopsy after surgery, are necessary. Using a facelift incision with retrograde facial nerve dissection, tumor resection in an intramasseteric lesion can be performed efficiently, without nerve damage, or leaving conspicuous scars on the face.
Adult ; Anesthesia, General ; Biopsy ; Biopsy, Fine-Needle ; Cheek ; Cicatrix ; Diagnosis ; Facial Nerve ; Female ; Head ; Hemangioma ; Humans ; Masseter Muscle ; Neck ; Neurilemmoma ; Outpatients ; Peripheral Nerves ; Rhytidoplasty

Symmetrical proximal weakness and characteristic dermatologic manifestations are important in the diagnosis of dermatomyositis. We report a case of atypical presentation of dermatomyositis due to previous steroid use and also report steroid-induced myopathy which may occur from steroid administration during the course of treatment. A 77-year-old man, previous steroid user, showed rapidly progressing weakness after abruptly stopped medication. He has presented erythematous papule on face and anterior chest but no heliotrope rash and Gottron's papules were observed. Muscle enzyme (creatine kinase) concentration is increased, and needle electromyography shows increased spontaneous activity on proximal limb muscle. The muscle biopsy confirmed dermatomyositis. During the course of treatment, he revealed persistent weakness despite the continuous steroid use and stable creatine kinase level. Electrodiagnostic study suggests steroid-induced myopathy and after tapering steroid, proximal muscle strength improved. This case reports the effect of steroid use on dermatomyositis patients and a process of diagnosing coexisting steroid induced myopathy during treatment.
Aged ; Biopsy ; Creatine Kinase ; Dermatomyositis ; Diagnosis ; Electromyography ; Exanthema ; Extremities ; Humans ; Muscle Strength ; Muscular Diseases ; Needles ; Thorax

Hepatocellular carcinoma is one of the most common cancers worldwide. Extrahepatic metastasis commonly occur in the lung, lymph, nodes, bone, and adrenal glands. On the other hand, a metastasis of hepatocellular carcinoma to the skeletal muscle is rare. A 42-year-old woman presented for evaluation of a palpable mass with tenderness in her right thigh area. She has been diagnosed with hepatocellular carcinoma and pulmonary metastasis seven years ago and has received treatment. We performed incisional biopsy with suspicion of hepatocellular carcinoma metastasis from imaging studies and blood test results. The patient was finally diagnosed with metastasis of hepatocellular carcinoma in the semimembranosus muscle and treated by extensive resection. We report this case with a review of the relevant literature.
Adrenal Glands ; Adult ; Biopsy ; Carcinoma, Hepatocellular ; Female ; Hand ; Hematologic Tests ; Humans ; Lung ; Muscle, Skeletal ; Neoplasm Metastasis ; Thigh

BACKGROUND: Cell-based therapies for treating bone defects require a source of stem cells with osteogenic potential. There is evidence from pathologic ossification within muscles that human skeletal muscles contain osteogenic progenitor cells. However, muscle samples are usually acquired through a traumatic biopsy procedure which causes pain and morbidity to the donor. Herein, we identified a new alternative source of skeletal muscle stem cells (SMSCs) without conferring morbidity to donors. METHODS: Adherent cells isolated from human orbicularis oculi muscle (OOM) fragments, which are currently discarded during ophthalmic cosmetic surgeries, were obtained using a two-step plating method. The cell growth kinetics, immunophenotype and capabilities of in vitro multilineage differentiation were evaluated respectively. Moreover, the osteogenically-induced cells were transduced with GFP gene, loaded onto the porous β-tricalcium phosphate (β-TCP) bioceramics, and transplanted into the subcutaneous site of athymic mice. Ectopic bone formation was assessed and the cell fate in vivo was detected. RESULTS: OOM-derived cells were fibroblastic in shape, clonogenic in growth, and displayed phenotypic and behavioral characteristics similar to SMSCs. In particular, these cells could be induced into osteoblasts in vitro evidenced by the extracellular matrix calcification and enhanced alkaline phosphatase (ALP) activity and osteocalcin (OCN) production. New bone formation was found in the cell-loaded bioceramics 6 weeks after implantation. By using the GFP-labeling technique, these muscle cells were detected to participate in the process of ectopic osteogenesis in vivo. CONCLUSION: Our data suggest that human OOM tissue is a valuable and noninvasive resource for osteoprogenitor cells to be used in bone repair and regeneration.
Alkaline Phosphatase ; Animals ; Biopsy ; Extracellular Matrix ; Fibroblasts ; Humans* ; In Vitro Techniques* ; Kinetics ; Methods ; Mice ; Mice, Nude ; Muscle Cells ; Muscle, Skeletal ; Muscles ; Ossification, Heterotopic ; Osteoblasts ; Osteocalcin ; Osteogenesis* ; Regeneration ; Stem Cells* ; Tissue Donors

A mammary-type myofibroblastoma is a rare benign mesenchymal neoplasm composed of spindle cells initially described to occur in the breast. However, they also arise at extra-mammary sites including the inguinal area, breast, chest wall/axilla, trunk, upper and lower extremities, and head and neck regions. In particular, mammary-type myofibroblastoma of the head and neck are extremely rare and may occur at any age. Immunohistochemically, it is typically CD34 and desmin positive. Currently, complete excision is considered as the first line treatment and recurrence of the tumor is rare. We experienced a 41-year-old man who visited with 1 cm sized firm mass of the tongue. The mass was resected and tissue biopsy revealed a diagnosis of mammary-type myofibroblastoma. Herein we report a rare case of mammary-type myofibroblastoma of the tongue with a review of the literature.
Adult ; Biopsy ; Breast ; Desmin ; Diagnosis ; Head ; Humans ; Lower Extremity ; Neck ; Neoplasms, Muscle Tissue ; Recurrence ; Thorax ; Tongue

BACKGROUND: Primary endobronchial smooth muscle tumors (SMTs), which are extremely rare, include endobronchial leiomyomas and leiomyosarcomas. Clinically, SMTs present with signs and symptoms of bronchial obstruction, and lack specific radiological findings. Thus, histopathological examination is required for accurate diagnosis as well as for tumor grading. We examined the histomorphological and immunohistochemical features of endobronchial SMTs and highlighted pitfalls in diagnosis, particularly when using small biopsies. METHODS: Cases of primary endobronchial SMTs diagnosed at our Institute over the last 6 years (2012–2017) were retrieved from the departmental archives. Histopathological features and immunohistochemistry performed for establishing the diagnosis were reviewed. RESULTS: Five cases of SMTs occurring in endobronchial locations were identified. These included three cases of leiomyoma, and two cases of leiomyosarcoma. The age distribution of patients ranged from 13 to 65 years. Leiomyomas showed more consistent staining with smooth muscle markers (smooth muscle actin, desmin, and smooth muscle myosin heavy chain), while tumors of higher grade showed variable, focal staining, leading to erroneous diagnosis, especially on small biopsies. CONCLUSIONS: The diagnosis of endobronchial SMTs relies on histopathological examination, for both confirmation of smooth muscle lineage and determination of the malignant potential of the lesion. Appropriate immunohistochemical panels including more than one marker of smooth muscle differentiation are extremely valuable for differential diagnosis from morphological mimics, which is necessary for instituting appropriate management.
Actins ; Age Distribution ; Biopsy ; Desmin ; Diagnosis ; Diagnosis, Differential ; Humans ; Immunohistochemistry ; Leiomyoma ; Leiomyosarcoma ; Muscle, Smooth ; Myosins ; Neoplasm Grading ; Smooth Muscle Tumor

Angiomyolipoma (AML) is a rare benign mesenchymal tumor in the liver, which is composed of blood vessels, smooth muscle, and adipose cells. The proportion of each component varies, making a diagnosis difficult. This paper reports a case of AML in the liver without adipose tissue, mimicking a hepatocellular carcinoma (HCC), which was diagnosed by a surgical tissue biopsy. A 65-year-old woman was admitted for an evaluation of a hepatic mass that had been detected by ultrasonography. The serologic markers of viral hepatitis B and C were negative. The liver function tests and alpha fetoprotein level were within the normal limits. Magnetic resonance imaging revealed a 1.9 cm sized mass in segment 6 of the liver with early arterial enhancement and washout on the delayed phase accompanied by a rim-like enhancement, which is similar to the imaging findings of HCC. A frozen section examination during surgery indicated a hepatocellular neoplasm and suggested the possibility of HCC. On the other hand, the final pathologic diagnosis was epithelioid myoid type of AML with no adipose tissue component. The tumor cells were positive for human melanocyte B-45 and negative for cytokeratin and hepatocyte paraffin 1. This paper reports a very rare case of AML without adipose tissue in the liver mimicking HCC that was diagnosed by a surgical tissue biopsy.
Adipose Tissue ; Aged ; alpha-Fetoproteins ; Angiomyolipoma ; Biopsy ; Blood Vessels ; Carcinoma, Hepatocellular ; Diagnosis ; Female ; Frozen Sections ; Hand ; Hepatitis B ; Hepatocytes ; Humans ; Keratins ; Liver Function Tests ; Liver ; Magnetic Resonance Imaging ; Melanocytes ; Muscle, Smooth ; Paraffin ; Ultrasonography