U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Acrokeratosis verruciformis of Hopf(AKV)

MedGen UID:
75589
Concept ID:
C0265971
Congenital Abnormality; Disease or Syndrome
Synonyms: Acrokeratosis verruciformis; AKV; HOPF DISEASE
SNOMED CT: Acrokeratosis verruciformis of Hopf (400085009); AKV - Acrokeratosis verruciformis (400085009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ATP2A2 (12q24.11)
 
Monarch Initiative: MONDO:0007048
OMIM®: 101900
Orphanet: ORPHA79151

Definition

Acrokeratosis verruciformis of Hopf (AKV) is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003). [from OMIM]

Clinical features

From HPO
Punctate palmoplantar hyperkeratosis
MedGen UID:
870406
Concept ID:
C4024851
Disease or Syndrome
A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
Acantholysis
MedGen UID:
1687
Concept ID:
C0000887
Pathologic Function
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Acrokeratosis
MedGen UID:
450988
Concept ID:
C0001202
Disease or Syndrome
Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Ridged nail
MedGen UID:
140853
Concept ID:
C0423820
Finding
Longitudinal, linear prominences in the nail plate.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Verrucous papule
MedGen UID:
868483
Concept ID:
C4022877
Anatomical Abnormality
A wartlike (with multiple small elevated projections) papule.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrokeratosis verruciformis of Hopf
Follow this link to review classifications for Acrokeratosis verruciformis of Hopf in Orphanet.

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029

Recent clinical studies

Etiology

Matsumoto A, Gregory N, Rady PL, Tyring SK, Carlson JA
Am J Dermatopathol 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693. PMID: 28426487

Diagnosis

Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E
JAMA Dermatol 2024 May 1;160(5):518-524. doi: 10.1001/jamadermatol.2024.0152. PMID: 38536168Free PMC Article
Faina V, Magri F, Sernicola A, Chello C, Gagliostro N, Grieco T
Clin Ter 2019 Nov-Dec;170(6):e418-e420. doi: 10.7417/CT.2019.2168. PMID: 31696902
Matsumoto A, Gregory N, Rady PL, Tyring SK, Carlson JA
Am J Dermatopathol 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693. PMID: 28426487
Cohen PR
Am J Clin Dermatol 2011 Aug 1;12(4):217-31. doi: 10.2165/11586910-000000000-00000. PMID: 21668031
Schueller WA
Arch Dermatol 1972 Jul;106(1):81-3. PMID: 5039112

Therapy

Andrade TC, Silva GV, Silva TM, Pinto AC, Nunes AJ, Martelli AC
An Bras Dermatol 2016 Sep-Oct;91(5):639-641. doi: 10.1590/abd1806-4841.20164919. PMID: 27828639Free PMC Article
Serarslan G, Balci DD, Homan S
J Dermatolog Treat 2007;18(2):123-5. doi: 10.1080/09546630601121029. PMID: 17520472
Farro P, Zalaudek I, Ferrara G, Fulgione E, Cicale L, Petrillo G, Zanchini R, Ruocco E, Argenziano G
J Dtsch Dermatol Ges 2004 Jun;2(6):440-2. doi: 10.1046/j.1439-0353.2004.04776.x. PMID: 16281601

Prognosis

Matsumoto A, Gregory N, Rady PL, Tyring SK, Carlson JA
Am J Dermatopathol 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693. PMID: 28426487
Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
J Invest Dermatol 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x. PMID: 12542527

Clinical prediction guides

Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E
JAMA Dermatol 2024 May 1;160(5):518-524. doi: 10.1001/jamadermatol.2024.0152. PMID: 38536168Free PMC Article
Cohen PR
Am J Clin Dermatol 2011 Aug 1;12(4):217-31. doi: 10.2165/11586910-000000000-00000. PMID: 21668031
Rallis E, Economidi A, Papadakis P, Verros C
Dermatol Online J 2005 Aug 1;11(2):10. PMID: 16150218
Piskin S, Saygin A, Doganay L, Kircuval D, Gurkan E
Yonsei Med J 2004 Oct 31;45(5):956-9. doi: 10.3349/ymj.2004.45.5.956. PMID: 15515213
Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
J Invest Dermatol 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x. PMID: 12542527

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...