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{{Infobox Disease
{{Infobox medical condition (new)
| Name = {{PAGENAME}}
| name = Acrokeratosis verruciformis
| synonyms = Acrokeratosis verruciformis of Hopf<ref name="Bolognia">{{cite book | vauthors = Rapini RP, Bolognia JL, Jorizzo JL |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=978-1-4160-2999-1 }}</ref>
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| Image =
| Caption =
| image = Autosomal dominant - en.svg
| caption = Acrokeratosis verruciformis has an autosomal dominant pattern of inheritance
⚫
| DiseasesDB = 3467
| ICD10 = {{ICD10|Q|82|8|q|82}}
| pronounce =
| ICD9 =
| field =
| ICDO =
| symptoms =
| OMIM = 101900
| complications =
| MedlinePlus =
| onset =
| duration =
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| eMedicineSubj = article
| types =
⚫
| eMedicineTopic = 1055892
| MeshID = D007644
| causes =
| risks =
| diagnosis =
| differential =
| prevention =
| treatment =
| medication =
| prognosis =
| frequency =
| deaths =
}}
}}
'''Acrokeratosis verruciformis''' (also known as "Acrokeratosis verruciformis of Hopf"<ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref>{{rp|1666}}) is a rare [[autosomal dominant]] disorder appearing at birth or in early childhood, characterized by [[skin lesion]]s that are small, verrucous, flat [[papule]]s resembling warts.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.</ref>{{rp|527}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref>{{rp|568}}
'''Acrokeratosis verruciformis''' is a rare [[autosomal dominant]] disorder appearing at birth or in early childhood, characterized by [[skin lesion]]s that are small, verrucous, flat [[papule]]s resembling warts along with palmoplantar punctate keratoses and pits.<ref name="Fitz2">{{cite book | vauthors = Freedberg IM, Eisen IZ, Wolff K, Austen F, Goldsmith LA, Katz S |title=Fitzpatrick's Dermatology in General Medicine |date=2003 |publisher=McGraw-Hill, Medical Pub. Division |location=New York |isbn=978-0-07-138076-8 |edition=6th}}</ref><ref name="Andrews">{{cite book | vauthors = James WD, Berger T, Elston D |title=Andrews' Diseases of the Skin : Clinical Dermatology. |date=2006 |publisher=Saunders Elsevier |location=Philadelphia |isbn=978-0-7216-2921-6 |edition=10th}}</ref> 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.<ref name="pmid12542527">{{cite journal | vauthors = Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A | display-authors = 6 | title = Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease | journal = The Journal of Investigative Dermatology | volume = 120 | issue = 2 | pages = 229–232 | date = February 2003 | pmid = 12542527 | doi = 10.1046/j.1523-1747.2003.t01-1-12045.x | doi-access = free }}</ref> however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.<ref name="jeadv">{{cite journal | vauthors = Gupta A, Sharma YK, Vellarikkal SK, Jayarajan R, Dixit V, Verma A, Sivasubbu S, Scaria V | display-authors = 6 | title = Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis | journal = Journal of the European Academy of Dermatology and Venereology | volume = 30 | issue = 4 | pages = 695–697 | date = April 2016 | pmid = 25622760 | doi = 10.1111/jdv.12983 | s2cid = 35181817 | doi-access = free }}</ref>


== Signs and symptoms ==
Like [[Darier's disease]], it is associated with [[ATP2A2]].<ref name="pmid12542527">{{cite journal |author=Dhitavat J, Macfarlane S, Dode L, ''et al.'' |title=Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease |journal=J. Invest. Dermatol. |volume=120 |issue=2 |pages=229–32 |date=February 2003 |pmid=12542527 |doi=10.1046/j.1523-1747.2003.t01-1-12045.x }}</ref>
Clinical signs of acrokeratosis include verrucous plaques and flat-topped, polygonal [[Papule|papules]].<ref name="Case report">{{cite journal | last1=Andrade | first1=Tatiana Cristina Pedro Cordeiro de | last2=Silva | first2=Gardênia Viana da | last3=Silva | first3=Tatiane Meira Pinho | last4=Pinto | first4=Ana Cecília Versiani Duarte | last5=Nunes | first5=Adauto José Ferreira | last6=Martelli | first6=Antônio Carlos Ceribelli | title=Acrokeratosis verruciformis of Hopf&nbsp;— Case report | journal=Anais Brasileiros de Dermatologia | publisher=FapUNIFESP (SciELO) | volume=91 | issue=5 | year=2016 | issn=0365-0596 | doi=10.1590/abd1806-4841.20164919 | pages=639–641| pmid=27828639 | pmc=5087224 }}</ref> The lesions range in hue from brown to skin tone, and their friction might cause vesicles.<ref name="pmid12542527"/><ref name="Acitretin">{{cite journal | last1=Serarslan | first1=Gamze | last2=Di˙dar Balci | first2=Di˙dem | last3=Homan | first3=Seydo | title=Acitretin treatment in acrokeratosis verruciformis of Hopf | journal=Journal of Dermatological Treatment | publisher=Informa UK Limited | volume=18 | issue=2 | date=2007-01-01 | issn=0954-6634 | doi=10.1080/09546630601121029 | pages=123–125| pmid=17520472 | s2cid=21336730 }}</ref> The backs of the hands and feet's proximal and distal interphalangeal joints are typically where the lesions are seen.<ref name="Non-familial">{{cite journal | last1=Bang | first1=Chul Hwan | last2=Kim | first2=Hei Sung | last3=Park | first3=Young Min | last4=Kim | first4=Hyung Ok | last5=Lee | first5=Jun Young | title=Non-familial Acrokeratosis Verruciformis of Hopf | journal=Annals of Dermatology | publisher=Korean Dermatological Association and The Korean Society for Investigative Dermatology | volume=23 | issue=Suppl 1 | year=2011 | pages=S61-3 | issn=1013-9087 | doi=10.5021/ad.2011.23.s1.s61 | pmid=22028575 | pmc=3199425 }}</ref> Lesions are less common and only occasionally seen on other body parts.<ref name="lines of blaschko">{{cite journal | last=Nair | first=PragyaA | title=Acrokeratosis verruciformis of hopf along lines of blaschko | journal=Indian Journal of Dermatology | publisher=Medknow | volume=58 | issue=5 | year=2013 | issn=0019-5154 | doi=10.4103/0019-5154.117324 | doi-access=free | page=406| pmid=24082200 | pmc=3778795 }}</ref> The frontal scalp, flexures, and [[oral mucosa]] are not affected by the condition.<ref name="Ormond Viana Vitral Pereira 1998 pp. 25–7">{{cite journal | last1=Ormond | first1=Débora Teresa da Silva | last2=Viana | first2=Silvânia Saraiva | last3=Vitral | first3=Érica A. O | last4=Pereira | first4=Carlos Adolpho C | last5=Carvalho | first5=Maria Teresa Feital de | title=Acroceratose verruciforme de Hopf: relato de caso | journal=An. Bras. Dermatol | date=1998 | pages=25–7 |url=https://pesquisa.bvsalud.org/portal/resource/pt/lil-226518 | language=pt | access-date=2024-02-26}}</ref> On the palms and soles, [[Keratosis punctata of the palmar creases|punctate keratosis]] is another symptom of the illness.<ref name="Case report"/> Changes to the nails, such as thickening of the nail plate, [[leukonychia]], longitudinal ridges, and nicks in the free edges, are often noted.<ref name="Non-familial"/>

== Causes ==
Acrokeratosis verruciformis is caused by mutations in the [[ATP2A2]] gene and is inherited in an autosomal dominant fashion.<ref name="Wang Gao Lin Yang 2006 pp. 558–563">{{cite journal | last1=Wang | first1=P.-G. | last2=Gao | first2=M. | last3=Lin | first3=G.-S. | last4=Yang | first4=S. | last5=Lin | first5=D. | last6=Liang | first6=Y.-H. | last7=Zhang | first7=G.-L. | last8=Zhu | first8=Y.-G. | last9=Cui | first9=Y. | last10=Zhang | first10=K.-Y. | last11=Huang | first11=W. | last12=Zhang | first12=X.-J. | title=Genetic heterogeneity in acrokeratosis verruciformis of Hopf | journal=Clinical and Experimental Dermatology | publisher=Oxford University Press (OUP) | volume=31 | issue=4 | year=2006 | issn=0307-6938 | doi=10.1111/j.1365-2230.2006.02134.x | pages=558–563| pmid=16716163 | s2cid=29529897 }}</ref>

== 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."<ref name="Case report"/>

== Treatment ==
Superficial ablation is currently the only effective treatment available.<ref name="lines of blaschko"/>


== See also ==
== See also ==
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== References ==
== References ==
{{reflist}}
{{reflist}}
== Further reading ==
* {{cite journal | title=Fallberichte | journal=JDDG: Journal der Deutschen Dermatologischen Gesellschaft | publisher=Wiley | volume=2 | issue=6 | date=2004-05-26 | issn=1610-0379 | doi=10.1046/j.1439-0353.2004.04776.x | pages=440–447 | pmid=16281601 | ref=none | last1=Farro | first1=P. | last2=Zalaudek | first2=I. | last3=Ferrara | first3=G. | last4=Fulgione | first4=E. | last5=Cicale | first5=L. | last6=Petrillo | first6=G. | last7=Zanchini | first7=R. | last8=Ruocco | first8=E. | last9=Argenziano | first9=G. | s2cid=28306714 }}
* {{cite journal | last1=Bergman | first1=Reuven | last2=Sezin | first2=Tanya | last3=Indelman | first3=Margarita | last4=Helou | first4=Wissam Abo | last5=Avitan-Hersh | first5=Emily | title=Acrokeratosis Verruciformis of Hopf Showing P602L Mutation in ATP2A2 and Overlapping Histopathological Features With Darier Disease | journal=The American Journal of Dermatopathology | publisher=Ovid Technologies (Wolters Kluwer Health) | volume=34 | issue=6 | year=2012 | issn=0193-1091 | doi=10.1097/dad.0b013e31823f9194 | pages=597–601 | pmid=22814319 | s2cid=21488408 | ref=none}}

== External links ==
* [https://dermnetnz.org/topics/acrokeratosis-verruciformis-of-hopf DermNet]
* [https://www.ncbi.nlm.nih.gov/books/NBK537250/ StatPearls]

{{Medical resources
| ICD11 = {{ICD11|EC20.Y}}
| ICD10 = {{ICD10|Q82.8}}
| ICD10CM = <!-- {{ICD10CM|Xxx.xxxx}} -->
| ICD9 = <!-- {{ICD9|xxx}} -->
⚫
| ICDO =
| OMIM = 101900
| MeshID =
⚫
| DiseasesDB = 3467
| SNOMED CT = 400085009
| Curlie =
| MedlinePlus =
⚫
| eMedicineSubj = article
⚫
| eMedicineTopic = 1055892
| PatientUK =
| NCI =
| GeneReviewsNBK =
| GeneReviewsName =
| NORD =
| GARDNum =
| GARDName =
| RP =
| AO =
| WO =
| OrthoInfo =
| Orphanet = 79151
| Scholia = Q4675784
| OB =
}}


{{Genodermatoses-stub}}
{{Ion pump disorders}}
{{Ion pump disorders}}

[[Category:Genodermatoses]]
[[Category:Genodermatoses]]

Latest revision as of 14:27, 5 March 2024

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

[edit]

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

[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]
  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. 91 (5). FapUNIFESP (SciELO): 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. 18 (2). Informa UK Limited: 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. 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.
  9. ^ 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.
  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. 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.
[edit]
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