Acrokeratosis Verruciformis
| Acrokeratosis Verruciformis | |
|---|---|
| Другие имена | Acrokeratosis Verruciformis of Hopf [ 1 ] |
 | |
| Acrokeratosis verruciformis has an autosomal dominant pattern of inheritance | |
| Specialty | Medical genetics  |
Acrokeratosis Verruciformis - это редкое аутосомно -доминантное расстройство, появляющееся при рождении или в раннем детстве, характеризующееся поражениями кожи , которые являются небольшими, вернуковыми, плоскими папулами, напоминающими бородавки, наряду с пальмоплантарными точечными кератозами и ямами. [ 2 ] [ 3 ] Однако спорадические формы, чьи менее 10 случаев были зарегистрированы, представлены в более позднем возрасте, обычно после первого десятилетия и, как правило, не имеют кератозов Palmoplantar. Является ли Acrokeratosis Verruciformis и Darier Behing Imploy или Compity Entinities, была противоречивой, как и болезнь Дариера , это связано с дефектами в гене ATP2A2 . [ 4 ] Однако специфические мутации, обнаруженные в гене ATP2A2 в Acrokeratosis Verruciformis, никогда не были обнаружены при болезни Дарье. [ 5 ]
Признаки и симптомы
[ редактировать ]Клинические признаки акрокероза включают в себя версидные бляшки и плоские полигональные папулы . [ 6 ] Повреждения варьируются в оттенок от коричневого до тона кожи, а их трение может вызвать везикул. [ 4 ] [ 7 ] The backs of the hands and feet's proximal and distal interphalangeal joints are typically where the lesions are seen.[8] Lesions are less common and only occasionally seen on other body parts.[9] The frontal scalp, flexures, and oral mucosa are not affected by the condition.[10] On the palms and soles, punctate keratosis is another symptom of the illness.[6] Changes to the nails, such as thickening of the nail plate, leukonychia, longitudinal ridges, and nicks in the free edges, are often noted.[8]
Causes
[edit]Acrokeratosis verruciformis is caused by mutations in the ATP2A2 gene and is inherited in an autosomal dominant fashion.[11]
Diagnosis
[edit]The diagnosis is established by histological characteristics such as acanthosis, hyperkeratosis, hypergranulosis without parakeratosis, and papillomatosis, which are limited epidermal elevations referred to as "church spires."[6]
Treatment
[edit]Superficial ablation is currently the only effective treatment available.[9]
See also
[edit]References
[edit]- ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Freedberg IM, Eisen IZ, Wolff K, Austen F, Goldsmith LA, Katz S (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). New York: McGraw-Hill, Medical Pub. Division. ISBN 978-0-07-138076-8.
- ^ James WD, Berger T, Elston D (2006). Andrews' Diseases of the Skin : Clinical Dermatology (10th ed.). Philadelphia: Saunders Elsevier. ISBN 978-0-7216-2921-6.
- ^ Jump up to: a b Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, et al. (February 2003). "Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease". The Journal of Investigative Dermatology. 120 (2): 229–232. doi:10.1046/j.1523-1747.2003.t01-1-12045.x. PMID 12542527.
- ^ Gupta A, Sharma YK, Vellarikkal SK, Jayarajan R, Dixit V, Verma A, et al. (April 2016). "Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis". Journal of the European Academy of Dermatology and Venereology. 30 (4): 695–697. doi:10.1111/jdv.12983. PMID 25622760. S2CID 35181817.
- ^ Jump up to: a b c Andrade, Tatiana Cristina Pedro Cordeiro de; Silva, Gardênia Viana da; Silva, Tatiane Meira Pinho; Pinto, Ana Cecília Versiani Duarte; Nunes, Adauto José Ferreira; Martelli, Antônio Carlos Ceribelli (2016). "Acrokeratosis verruciformis of Hopf — Case report". Anais Brasileiros de Dermatologia. 91 (5). FapUNIFESP (SciELO): 639–641. doi:10.1590/abd1806-4841.20164919. ISSN 0365-0596. PMC 5087224. PMID 27828639.
- ^ Serarslan, Gamze; Di˙dar Balci, Di˙dem; Homan, Seydo (2007-01-01). "Acitretin treatment in acrokeratosis verruciformis of Hopf". Journal of Dermatological Treatment. 18 (2). Informa UK Limited: 123–125. doi:10.1080/09546630601121029. ISSN 0954-6634. PMID 17520472. S2CID 21336730.
- ^ Jump up to: a b Bang, Chul Hwan; Kim, Hei Sung; Park, Young Min; Kim, Hyung Ok; Lee, Jun Young (2011). "Non-familial Acrokeratosis Verruciformis of Hopf". Annals of Dermatology. 23 (Suppl 1). Korean Dermatological Association and The Korean Society for Investigative Dermatology: S61-3. doi:10.5021/ad.2011.23.s1.s61. ISSN 1013-9087. PMC 3199425. PMID 22028575.
- ^ Jump up to: a b Nair, PragyaA (2013). "Acrokeratosis verruciformis of hopf along lines of blaschko". Indian Journal of Dermatology. 58 (5). Medknow: 406. doi:10.4103/0019-5154.117324. ISSN 0019-5154. PMC 3778795. PMID 24082200.
- ^ Ormond, Débora Teresa da Silva; Viana, Silvânia Saraiva; Vitral, Érica A. O; Pereira, Carlos Adolpho C; Carvalho, Maria Teresa Feital de (1998). "Acroceratose verruciforme de Hopf: relato de caso". An. Bras. Dermatol (in Portuguese): 25–7. Retrieved 2024-02-26.
- ^ Wang, P.-G.; Gao, M.; Lin, G.-S.; Yang, S.; Lin, D.; Liang, Y.-H.; Zhang, G.-L.; Zhu, Y.-G.; Cui, Y.; Zhang, K.-Y.; Huang, W.; Zhang, X.-J. (2006). "Genetic heterogeneity in acrokeratosis verruciformis of Hopf". Clinical and Experimental Dermatology. 31 (4). Oxford University Press (OUP): 558–563. doi:10.1111/j.1365-2230.2006.02134.x. ISSN 0307-6938. PMID 16716163. S2CID 29529897.
Further reading
[edit]- Farro, P.; Zalaudek, I.; Ferrara, G.; Fulgione, E.; Cicale, L.; Petrillo, G.; Zanchini, R.; Ruocco, E.; Argenziano, G. (2004-05-26). "Fallberichte". JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 2 (6). Wiley: 440–447. doi:10.1046/j.1439-0353.2004.04776.x. ISSN 1610-0379. PMID 16281601. S2CID 28306714.
- Bergman, Reuven; Sezin, Tanya; Indelman, Margarita; Helou, Wissam Abo; Avitan-Hersh, Emily (2012). "Acrokeratosis Verruciformis of Hopf Showing P602L Mutation in ATP2A2 and Overlapping Histopathological Features With Darier Disease". The American Journal of Dermatopathology. 34 (6). Ovid Technologies (Wolters Kluwer Health): 597–601. doi:10.1097/dad.0b013e31823f9194. ISSN 0193-1091. PMID 22814319. S2CID 21488408.