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Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.
Medicina (Kaunas)
January 2025
Division of Allergy/Immunology, Department of Pediatrics, Jackson Memorial Holtz Children's Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. While IEIs traditionally present with recurrent infections, an increasing number of cases manifest with early-onset severe atopy, including atopic dermatitis, food allergies, asthma, and allergic rhinitis-features that are often overlooked. This can lead to delayed diagnosis and treatment, which is crucial for IEI patients due to the risk of severe infections.
View Article and Find Full Text PDFPigmented Syringomatous Carcinoma/Sweat Gland Carcinoma of the Vulva With Melanocytic Colonization: An Uncommon Presentation of a Rare Sweat Gland Neoplasm.
Am J Dermatopathol
February 2025
Departments of Dermatology and Pathology, School of Medicine, Wake Forest University, Medical Center BLVD, Winston Salem, NC.
Primary vulvar carcinomas are rare and constitute a diverse group of neoplasms. These primary tumors are typically classified based on their presumed tissue of origin or histological characteristics. Among these, carcinomas of sweat gland origin are particularly significant.
View Article and Find Full Text PDFACTB::ZMIZ2-rearranged adnexal carcinoma: a second case.
Virchows Arch
January 2025
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, 37044, Tours, France.
A case of cutaneous adnexal neoplasm with unusual squamoid morphology and harboring an in frame ACTB::ZMIZ2 fusion transcript was recently described. Herein, we report a second case of adnexal carcinoma harboring similar morphology and an identical in frame ACTB::ZMIZ2 fusion transcript. This 2.
View Article and Find Full Text PDFScleredema: An Unusual Cutaneous Manifestation of Coronavirus Infection.
Adv Skin Wound Care
January 2025
In the Department of Dermatology, Employees' State Insurance Corporation-Post Graduate Institute of Medical Sciences and Research, in Basaidarapur, New Delhi, India. Priyanka Hemrajani, MD, is Assistant Professor; Mona Sharma, MD, and Piyush Gupta, MD, are Senior Residents; Tapan Kumar Dhali, MD, is Professor; and Paschal D'souza, MD, is Professor and Head of Department. The authors have disclosed no financial relationships related to this article. Submitted April 8, 2023; accepted in revised form April 2, 2024.
The global pandemic caused by COVID-19 led to numerous novel cases of autoimmune and rheumatologic disorders that developed postinfection. Along these lines, these authors report an unusual case of scleredema following SARS-CoV-2 infection in an individual who lacked any known risk factors. Given the emergence of newer mutant strains of COVID-19 and steadily rising numbers of people receiving COVID-19 vaccinations, physicians should remain alert for as yet unrecognized manifestations of the disease.
View Article and Find Full Text PDFA rare presentation of neurofibromatosis mimicking leprosy.
J R Coll Physicians Edinb
January 2025
AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.
Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by café-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn't show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis.
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