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https://www.selleckchem.com/products/vx803-m4344.html NLSDM is a rare metabolic myopathy caused by mutations in the patatin-like phosphatase domain protein 2 (PAPLA2) genes. In the present study, we describe the clinical and genetic findings in our Chinese patient with NLSDM. Sequence analysis of PNPLA2 gene was performed. Gene analysis for PNPLA2 revealed an identical homozygous mutation c.757+1G>T in our patient. The clinical symptoms of our patient are related to the type of mutation in the PNPLA2 gene and environmental effects. IJCEP Copyright © 2020.We report a 38-year-old man who presented with bilateral conjunctival congestion, hoarseness, and progressively growing pruritic, infiltrated skin lesions that had first begun over the face and neck, and later spread to the trunk and the limbs in 4 months. The clinical appearance of the lesions mimics granulomatous rosacea, acne vulgaris, or pityrosporum folliculitis. Histopathologic examination of the lesions from the face and chest both revealed dense dermal nodular lymphohistiocytic infiltrates which were positive for CD68 and S-100, but negative for CD1a. A systemic work-up for him detected no lymphadenopathy or other systemic involvement. A diagnosis of extranodal Rosai-Dorfman disease was made, and the patient received systemic glucocorticoids, with considerable improvement after 4 months of therapy. IJCEP Copyright © 2020.BACKGROUND Adenoid cystic carcinoma (ACC) is a rare malignancy of epithelial origin. It involves a variety of histologic types and often has distant metastasis. ACC metastasis to the liver is rare and usually involves spread to other organs. CASE PRESENTATION We report a case of liver metastasis from a submandibular gland adenoid cystic carcinoma 11 years after resection of tumor. The patient was admitted to our hospital due to a liver-occupying lesion found by abdominal B-ultrasound, CT and MRI. A metastasis was found only in the liver, and after discussion the patient was treated with surg

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