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| http://dx.doi.org/10.2340/actadv.v103.10437 | DOI Listing |
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MmuPV1 infection of Tmc6/Ever1 or Tmc8/Ever2 deficient FVB mice as a model of βHPV in typical epidermodysplasia verruciformis.
PLoS Pathog
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Typical epidermodysplasia verruciformis (EV) is a rare, autosomal recessive disorder characterized by an unusual susceptibility to infection with specific skin-trophic types of human papillomavirus, principally betapapillomaviruses, and a propensity for developing malignant skin tumors in sun exposed regions. Its etiology reflects biallelic loss-of-function mutations in TMC6 (EVER1), TMC8 (EVER2) or CIB1. A TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for βHPV infection.
View Article and Find Full Text PDFAcquired Epidermodysplasia Verruciformis With HPV5 RNA Expression Using RNA Chromogenic In Situ Hybridization.
J Cutan Pathol
November 2024
Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Acquired epidermodysplasia verruciformis is a rare condition, secondary to a state of acquired immunosuppression and is characterized by a susceptibility to infection by human papillomavirus of the beta genus, which carries an increased risk of developing non-melanoma skin cancer. We report the case of a 39-year-old woman receiving a kidney transplant, treated with prednisone and tacrolimus, who after starting immunosuppressive therapy developed papules and warty plaques in the inguinal region. A skin biopsy was performed that was consistent with epidermodysplasia verruciformis, so it was decided to adjust immunosuppressive therapy to everolimus, which achieved a reduction in lesions.
View Article and Find Full Text PDFCase Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.
Viruses
September 2024
Laboratory of Clinical Immunology-Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, Morocco.
Article Synopsis
- Epidermodysplasia verruciformis (EV) is a rare skin condition linked to β-human papillomaviruses (HPV) in immunodeficient individuals, presenting as flat warts and pityriasis-like lesions.
- The study details three patients from two families with syndromic EV, identified through whole exome sequencing to have new homozygous variants in the STK4 gene, resulting in a premature stop codon.
- STK4 deficiency causes a combined immunodeficiency leading to increased susceptibility to various infections and autoimmune issues, as evidenced by immunophenotyping showing significant CD4 T cell deficiency in the patients.
Epidermodysplasia Verruciformis (Lewandowsky and Lutz's Dysplasia).
Skinmed
September 2024
Pathology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
A woman in her twenties, with a non-consanguineous marriage, presented to the dermatology clinic with asymptomatic lesions on her face, neck, trunk, and extremities for the past 12 years. The general physical and systemic examination was unremarkable. Cutaneous examination revealed multiple hypopigmented to a few hyperpigmented, slightly scaly tinea versicolor-like macules distributed predominantly on the neck, upper portion of the back, and distal parts of the extremities (Figures 1-5).
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