Acrokeratosis verruciformis

{{Infobox medical condition (new)

| name = Acrokeratosis verruciformis

| synonyms = Acrokeratosis verruciformis of Hopf{{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 }}

| image = Autosomal dominant - en.svg

| caption = Acrokeratosis verruciformis has an autosomal dominant pattern of inheritance

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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.{{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}}{{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}} 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.{{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 }} however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.{{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 }}

Signs and symptoms

Clinical signs of acrokeratosis include verrucous plaques and flat-topped, polygonal papules.{{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 }} The lesions range in hue from brown to skin tone, and their friction might cause vesicles.{{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 }} The backs of the hands and feet's proximal and distal interphalangeal joints are typically where the lesions are seen.{{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 }} Lesions are less common and only occasionally seen on other body parts.{{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 }} The frontal scalp, flexures, and oral mucosa are not affected by the condition.{{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}} On the palms and soles, punctate keratosis is another symptom of the illness. Changes to the nails, such as thickening of the nail plate, leukonychia, longitudinal ridges, and nicks in the free edges, are often noted.

Causes

Acrokeratosis verruciformis is caused by mutations in the ATP2A2 gene and is inherited in an autosomal dominant fashion.{{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 }}

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."

Treatment

Superficial ablation is currently the only effective treatment available.

References

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}}

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| OMIM = 101900

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| DiseasesDB = 3467

| SNOMED CT = 400085009

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| eMedicineTopic = 1055892

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| Scholia = Q4675784

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Category:Genodermatoses