Epidermodysplasia verruciformis
Epidermodysplasia verruciformis | |
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Other names: Lewandowsky–Lutz dysplasia, treeman syndrome | |
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Pityriasis versicolor-like pale spots and small bumps in typical epidermodysplasia verruciformis | |
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Specialty | Dermatology |
Symptoms | Scaly warty spots and small bumps, chiefly on the hands, feet, face, neck[1] |
Complications | Disfigurement, squamous cell skin cancer[1] |
Usual onset | Children, young adults[1] |
Duration | Lifelong |
Types | Typical, atypical, acquired[2] |
Causes | Inherited most commonly by autosomal recessive trait, acquired immunodeficiency[2] |
Diagnostic method | Visualisation, skin biopsy, molecular analysis[3] |
Prevention | Sun protection to prevent skin cancer[1] |
Treatment | Surgery, ALA-PDT (photodynamic therapy with aminolevulinic acid)[1] |
Medication | Applying 5-FU or imiquimod, retinoids by mouth[1] |
Prognosis | Recurs on stopping treatment[1] |
Frequency | Rare[1] |
Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions.[1] It results from an abnormal susceptibility to HPV infection (HPV) and is associated with a high lifetime risk of squamous cell carcinomas in skin.[1] It generally presents with scaly spots and small bumps particularly on the hands, feet, face and neck; typically beginning in childhood or in a young adult.[1] The bumps tend to be flat, grow in number and then merge to form plaques.[1] On the trunk, it typically appears like pityriasis versicolor; lesions there being slightly scaly and tan, brown, red or looking pale.[1] On the elbows, it may appear like psoriasis.[1] On the forehead, neck and trunk, the lesions may appear like seborrheic keratosis.[1]
It is most frequently inherited as an autosomal recessive trait, with some reports of autosomal dominant and X-linked inheritance.[1][2] Other types include atypical EV which develops due to gene mutations that cause an impaired immune system, and acquired EV which occurs due to acquired immunodeficiency.[2][4] It is characterized by an inability to protect against HPV infection of skin.[3][5] HPV types 5 and 8 are detected in around 90% of skin cancers in people with EV.[1] Other types that are associated with EV include 3, 4, 5, 8, 9, 10, 12, 14, 15 and 17, 19-25, 36-38, and 47.[1] In rare cases, the warts may develop into giant horns resulting in treeman syndrome.[6]
Diagnosis is based on clinical findings, appearance of histopathology from skin biopsy, and molecular analysis.[3] Prevention of skin cancer requires sun protection.[1] Treatment typically involves surgery; sometimes with the addition of skin grafting.[1] Medications used to treat the lesions include ALA-PDT (photodynamic therapy with aminolevulinic acid), applying 5-FU, imiquimod, and retinoids by mouth.[1] The lesions tend to recur on stopping treatment.[1]
The condition is rare.[1] The lesions have been noted to occur at a younger age in warmer climates.[1] EV associated skin cancer develops less frequently in Africans.[1] The condition was first described by Felix Lewandowsky and Wilhelm Lutz in 1922.[7]
Signs and symptoms
It generally presents with scaly spots and small bumps particularly on the hands, feet, face and neck; typically beginning in childhood or in a young adult.[1] The bumps tend to be flat, grow in number and then merge to form plaques.[1] On the trunk, it typically appears like pityriasis versicolor; lesions there being slightly scaly and tan, brown, red or looking pale.[1] On the elbows, it may appear like psoriasis.[1] On the forehead, neck and trunk, the lesions may appear like seborrheic keratosis.[1]
Cause
Genetics
The cause of the condition is an inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17.[7] These genes play a role in regulating the distribution of zinc in the cell nuclei. Zinc is a necessary cofactor for many viral proteins, and the activity of EVER1/EVER2 complex appears to restrict the access of viral proteins to cellular zinc stores, limiting their growth.[8]
Other genes have also rarely been associated with this condition. These include the ras homolog gene family member H.[9]
Diagnosis
Diagnosis is based on clinical findings, appearance of histopathology from skin biopsy, and molecular analysis.[3]
Treatment
Prevention of skin cancer requires sun protection.[1] Treatment typically involves surgery; sometimes with the addition of skin grafting.[1] Medications used to treat the lesions include ALA-PDT (photodynamic therapy with aminolevulinic acid), applying 5-FU, imiquimod, and retinoids by mouth.[1] The lesions tend to recur on stopping treatment.[1]
Zinc therapy has also been effective in the treatment of those individuals affected by Epidermodysplasia verruciformis[10]
History
The condition was first described by Felix Lewandowsky and Wilhelm Lutz in 1922.[7][11] In 1939 Sullivan and Ellis noted the association between EV and a high risk of skin cancer.[7]
Other images
Abul Bajandar from Bangladesh
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 1.18 1.19 1.20 1.21 1.22 1.23 1.24 1.25 1.26 1.27 1.28 1.29 1.30 1.31 1.32 1.33 James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "19. Viral diseases: epidermodysplasia verruciformis". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 411–412. ISBN 978-0-323-54753-6. Archived from the original on 2023-03-19. Retrieved 2023-03-19.
- ↑ 2.0 2.1 2.2 2.3 Shimizu, Akira; Yamaguchi, Reimon; Kuriyama, Yuko (March 2023). "Recent advances in cutaneous HPV infection". The Journal of Dermatology. 50 (3): 290–298. doi:10.1111/1346-8138.16697. ISSN 1346-8138. PMID 36601717. Archived from the original on 2023-03-19. Retrieved 2023-03-19.
- ↑ 3.0 3.1 3.2 3.3 Myers, David J.; Kwan, Eddie; Fillman, Eric P. (2022). "Epidermodysplasia Verruciformis". StatPearls. StatPearls Publishing. PMID 30480937.
- ↑ Moore, Stephen; Rady, Peter; Tyring, Stephen (November 2022). "Acquired epidermodysplasia verruciformis: clinical presentation and treatment update". International Journal of Dermatology. 61 (11): 1325–1335. doi:10.1111/ijd.15857. ISSN 1365-4632. Archived from the original on 2023-03-19. Retrieved 2023-03-19.
- ↑ Mogensen, Trine H. (November 2022). "Genetic susceptibility to viral disease in humans". Clinical Microbiology and Infection: The Official Publication of the European Society of Clinical Microbiology and Infectious Diseases. 28 (11): 1411–1416. doi:10.1016/j.cmi.2022.02.023. ISSN 1469-0691. PMID 35218976. Archived from the original on 2022-12-04. Retrieved 2023-03-19.
- ↑ Uitto, Jouni; Saeidian, Amir Hossein; Youssefian, Leila; Saffarian, Zahra; Casanova, Jean-Laurent; Béziat, Vivien; Jouanguy, Emmanuelle; Vahidnezhad, Hassan (May 2022). "Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes". The Journal of Investigative Dermatology. 142 (5): 1265–1269. doi:10.1016/j.jid.2021.10.029. ISSN 1523-1747. PMID 34843682. Archived from the original on 2023-03-20. Retrieved 2023-03-20.
- ↑ 7.0 7.1 7.2 7.3 Emsen, IM; Kabalar, ME (2010). "Epidermodysplasia verruciformis: An early and unusual presentation". The Canadian journal of plastic surgery = Journal canadien de chirurgie plastique. 18 (1): 21–4. PMID 21358870. Archived from the original on 2021-05-19. Retrieved 2023-03-21.
- ↑ Lazarczyk M, Favre M (December 2008). "Role of Zn2+ ions in host-virus interactions". Journal of Virology. 82 (23): 11486–94. doi:10.1128/JVI.01314-08. PMC 2583646. PMID 18787005.
- ↑ Crequer, Amandine; Troeger, Anja; Patin, Etienne; Ma, Cindy; Picard, Capucine; Pedergnana, Vincent; Fieschi, Claire; Lim, Annick; Abhyankar, Avinash; Gineau, Laure; Mueller-Fleckenstein, Ingrid; Schmidt, Monika; Taieb, Alain; Krueger, James; Abel, Laurent; Tangye, Stuart; Orth, Gérard; Williams, David; Casanova, Jean-Laurent; Jouanguy, Emmanuelle (2012-08-01). "Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections". The Journal of Clinical Investigation. 122 (9): 3239–3247. doi:10.1172/JCI62949. PMC 3428089. PMID 22850876.
- ↑ Lebwohl, Mark G.; Heymann, Warren R.; Berth-Jones, John; Coulson, Ian (2017). "Epidermodysplasia verruciformis". Treatment of Skin Disease: Comprehensive Therapeutic Strategies. Elsevier. p. 225. ISBN 978-0-7020-6913-0. Archived from the original on 2023-03-21. Retrieved 2023-03-21.
- ↑ Lewandowsky F, Lutz W (October 1922). "Ein Fall einer bisher nicht beschriebenen Hauterkrankung (Epidermodysplasia verruciformis)". Archiv für Dermatologie und Syphilis (in Deutsch). 141 (2): 193–203. doi:10.1007/BF01938833. S2CID 8585441. Archived from the original on 2021-09-23. Retrieved 2021-07-14.
External links
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