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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9154129PMC
http://dx.doi.org/10.4103/ijd.ijd_830_20DOI Listing

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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.

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Case 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.
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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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Article Synopsis
  • Epidermodysplasia verruciformis (EV) is a rare genetic skin condition that makes individuals more susceptible to certain HPV types and increases their risk of skin cancer.
  • A case study of a 22-year-old male showed typical symptoms of EV, such as flat red bumps on the skin, and a biopsy revealed distinct histological features without signs of cancer.
  • Early diagnosis and ongoing management, including genetic counseling, sun protection, and monitoring for suspicious skin changes, are crucial for those with EV to prevent malignant growths.
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