Editing Acrokeratosis verruciformis
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{{Infobox Disease |
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| 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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| caption = Acrokeratosis verruciformis has an autosomal dominant pattern of inheritance |
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| OMIM = 101900 |
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| MeshID = D007644 |
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'''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 |
'''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 0071380760.</ref>{{rp|527}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0721629210.</ref>{{rp|568}} |
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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> |
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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 |year=2003 |month=February |pmid=12542527 |doi=10.1046/j.1523-1747.2003.t01-1-12045.x |url=http://dx.doi.org/10.1046/j.1523-1747.2003.t01-1-12045.x}}</ref> |
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== Signs and symptoms == |
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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 — 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"/> |
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== Causes == |
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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> |
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== Diagnosis == |
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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"/> |
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== Treatment == |
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Superficial ablation is currently the only effective treatment available.<ref name="lines of blaschko"/> |
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== See also == |
== See also == |
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* [[ |
* [[Skin lesion]] |
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* [[List of genes mutated in cutaneous conditions]] |
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== References == |
== References == |
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{{reflist}} |
{{reflist}} |
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== Further reading == |
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* {{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 }} |
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* {{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}} |
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== External links == |
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* [https://dermnetnz.org/topics/acrokeratosis-verruciformis-of-hopf DermNet] |
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* [https://www.ncbi.nlm.nih.gov/books/NBK537250/ StatPearls] |
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{{Medical resources |
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| ICD11 = {{ICD11|EC20.Y}} |
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| ICD10 = {{ICD10|Q82.8}} |
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| ICD10CM = <!-- {{ICD10CM|Xxx.xxxx}} --> |
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| ICD9 = <!-- {{ICD9|xxx}} --> |
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| OMIM = 101900 |
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| SNOMED CT = 400085009 |
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| Orphanet = 79151 |
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| Scholia = Q4675784 |
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{{Genodermatoses-stub}} |
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{{Ion pump disorders}} |
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[[Category:Genodermatoses]] |
[[Category:Genodermatoses]] |
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