Acrokeratosis verruciformis
Other namesAcrokeratosis verruciformis of Hopf[1]
Acrokeratosis verruciformis has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics Edit this on Wikidata

Acrokeratosis verruciformis is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits.[2][3] However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene.[4] however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.[5]

Signs and symptoms

Clinical signs of acrokeratosis include verrucous plaques and flat-topped, polygonal papules.[6] The lesions range in hue from brown to skin tone, and their friction might cause vesicles.[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

Acrokeratosis verruciformis is caused by mutations in the ATP2A2 gene and is inherited in an autosomal dominant fashion.[11]

Diagnosis

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

Superficial ablation is currently the only effective treatment available.[9]

See also

References

  1. ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ 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.
  3. ^ 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.
  4. ^ 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.
  5. ^ 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.
  6. ^ 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. FapUNIFESP (SciELO). 91 (5): 639–641. doi:10.1590/abd1806-4841.20164919. ISSN 0365-0596. PMC 5087224. PMID 27828639.
  7. ^ Serarslan, Gamze; Di˙dar Balci, Di˙dem; Homan, Seydo (2007-01-01). "Acitretin treatment in acrokeratosis verruciformis of Hopf". Journal of Dermatological Treatment. Informa UK Limited. 18 (2): 123–125. doi:10.1080/09546630601121029. ISSN 0954-6634. PMID 17520472. S2CID 21336730.
  8. ^ 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. Korean Dermatological Association and The Korean Society for Investigative Dermatology. 23 (Suppl 1): S61-3. doi:10.5021/ad.2011.23.s1.s61. ISSN 1013-9087. PMC 3199425. PMID 22028575.
  9. ^ a b Nair, PragyaA (2013). "Acrokeratosis verruciformis of hopf along lines of blaschko". Indian Journal of Dermatology. Medknow. 58 (5): 406. doi:10.4103/0019-5154.117324. ISSN 0019-5154. PMC 3778795. PMID 24082200.
  10. ^ 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.
  11. ^ 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. Oxford University Press (OUP). 31 (4): 558–563. doi:10.1111/j.1365-2230.2006.02134.x. ISSN 0307-6938. PMID 16716163. S2CID 29529897.

Further reading

External links

Classification
Genetic disorder, membrane: ATPase disorders
Category