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COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.
Skeletal Radiol
December 2024
Department of Clinical Genomics, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ, 85259, USA.
COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present.
View Article and Find Full Text PDFTender Cutaneous Neoplasms: Case Reports of Patients With a Symptomatic Dermatofibroma and a New Acrostic for Painful Tumors of the Skin.
Cureus
September 2022
Dermatology, University of California, Davis Medical Center, Sacramento, USA.
Article Synopsis
- The text discusses the cases of three women aged 35 to 42 who experienced painful dermatofibromas, with one patient on long-term immunosuppressive therapy after a liver transplant, while the others were healthy.
- The dermatofibromas varied in size from 5 to 12 mm, exhibited different colors, and were located on the buttock, shoulder, and arm; all women reported pain that lasted several months to over a year.
- Upon undergoing punch biopsies that removed most of the tumors, all women reported relief from pain, and the text also highlights the development of mnemonics to help clinicians remember various tender cutaneous neoplasms, including a new acrostic inspired by the book
Intravenous Lobular Capillary Hemangioma: A Case Report and Proposal for New Cutaneous Tender Tumor Differential Diagnosis Acronym.
Cureus
August 2022
Dermatopathology, University of California Irvine, Orange, USA.
Article Synopsis
- A 70-year-old woman developed a painful, enlarging nodule on her forearm, which was found to be a subcutaneous mass after surgical excision.
- The pathology revealed that it was an intravenous lobular capillary hemangioma (IVLCH), a rare benign tumor that typically causes discomfort but can be cured with excision.
- The authors propose a new acronym for identifying various cause of tender skin tumors, emphasizing the need for ongoing updates in this classification to assist medical professionals in their diagnoses.*
[Piezogenic papules: Ultrasound imaging].
Rev Esp Geriatr Gerontol
November 2021
Departamento Dermatología, HCU Lozano Blesa, Zaragoza, España. Electronic address:
Foreign Body (Solder) and Reaction to the Foreign Body Presenting As a Cutaneous Tender Tumor: Case Report and a New Acronym to Aid in Recalling the Differential Diagnosis of Painful Skin Lesions.
Cureus
February 2020
Dermatology/Dermatopathology, Compass Dermatopathology, San Diego, USA.
Article Synopsis
- Cutaneous tender tumors are painful masses found in the skin or beneath it, and their diagnosis can involve foreign body reactions, as demonstrated in a case study of a man who suffered a painful leg lesion from embedded solder.
- In this case, the mass was surgically removed, leading to symptom resolution and a diagnosis confirming the foreign body presence and its reaction.
- The text proposes a mnemonic acronym, "CALM HOGS FLED PENS AND GET BACK," to help remember various conditions presenting as painful skin lesions, making it easier for students and professionals to recall relevant medical information.
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