U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Palmoplantar keratoderma, nonepidermolytic, focal or diffuse(PPKNEFD)

MedGen UID:
816724
Concept ID:
C3810394
Disease or Syndrome
Synonyms: PALMOPLANTAR KERATODERMA, FOCAL OR DIFFUSE; PPKNEFD
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): KRT6C (12q13.13)
 
Monarch Initiative: MONDO:0014327
OMIM®: 615735
Orphanet: ORPHA402003

Disease characteristics

Excerpted from the GeneReview: Pachyonychia Congenita
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. [from GeneReviews]
Authors:
Frances JD Smith  |  C David Hansen  |  Peter R Hull, et. al.   view full author information

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
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).
Plantar hyperkeratosis
MedGen UID:
341658
Concept ID:
C1856954
Finding
Hyperkeratosis affecting the sole of the foot.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmoplantar keratoderma, nonepidermolytic, focal or diffuse
Follow this link to review classifications for Palmoplantar keratoderma, nonepidermolytic, focal or diffuse in Orphanet.

Professional guidelines

PubMed

Attaway AH, Scheraga RG, Bhimraj A, Biehl M, Hatipoğlu U
BMJ 2021 Mar 10;372:n436. doi: 10.1136/bmj.n436. PMID: 33692022
Long B, Robertson J, Koyfman A
J Emerg Med 2019 Feb;56(2):166-176. Epub 2018 Dec 6 doi: 10.1016/j.jemermed.2018.10.024. PMID: 30527563
Rosenfeld RM, Schwartz SR, Cannon CR, Roland PS, Simon GR, Kumar KA, Huang WW, Haskell HW, Robertson PJ
Otolaryngol Head Neck Surg 2014 Feb;150(1 Suppl):S1-S24. doi: 10.1177/0194599813517083. PMID: 24491310

Recent clinical studies

Etiology

Thawabteh AM, Naseef HA, Karaman D, Bufo SA, Scrano L, Karaman R
Toxins (Basel) 2023 Sep 20;15(9) doi: 10.3390/toxins15090582. PMID: 37756009Free PMC Article
Tehrani-Bagha AR
Adv Colloid Interface Sci 2019 Jun;268:114-135. Epub 2019 Mar 13 doi: 10.1016/j.cis.2019.03.006. PMID: 31022590
Kosmidis K, Dassios G
J Pharmacokinet Pharmacodyn 2019 Apr;46(2):165-172. Epub 2019 Mar 18 doi: 10.1007/s10928-019-09625-8. PMID: 30880356
Woods JC, Conradi MS
J Magn Reson 2018 Jul;292:90-98. Epub 2018 Apr 26 doi: 10.1016/j.jmr.2018.04.007. PMID: 29705031Free PMC Article
Zhang C, Zhu MY, Zeng GM, Yu ZG, Cui F, Yang ZZ, Shen LQ
Environ Sci Pollut Res Int 2016 Mar;23(5):4370-86. Epub 2016 Jan 14 doi: 10.1007/s11356-016-6076-8. PMID: 26762937

Diagnosis

Jiang X, Li H, Devan SP, Gore JC, Xu J
Magn Reson Imaging 2021 Apr;77:109-123. Epub 2020 Dec 16 doi: 10.1016/j.mri.2020.12.010. PMID: 33338562Free PMC Article
Tang L, Zhou XJ
J Magn Reson Imaging 2019 Jan;49(1):23-40. Epub 2018 Oct 12 doi: 10.1002/jmri.26293. PMID: 30311988Free PMC Article
Shang Y, Li T, Yu G
Physiol Meas 2017 Apr;38(4):R1-R26. Epub 2017 Feb 15 doi: 10.1088/1361-6579/aa60b7. PMID: 28199219Free PMC Article
Hegewald MJ
Clin Rev Allergy Immunol 2009 Dec;37(3):159-66. Epub 2009 Mar 31 doi: 10.1007/s12016-009-8125-2. PMID: 19330553
Marriott C
Symp Soc Exp Biol 1989;43:163-77. PMID: 2701476

Therapy

Estrada E, Gómez-Gardeñes J, Lacasa L
Proc Natl Acad Sci U S A 2023 Aug;120(31):e2305001120. Epub 2023 Jul 25 doi: 10.1073/pnas.2305001120. PMID: 37490534Free PMC Article
Bermejo M, Sanchez-Dengra B, Gonzalez-Alvarez M, Gonzalez-Alvarez I
Expert Opin Drug Deliv 2020 Jun;17(6):791-803. Epub 2020 Apr 20 doi: 10.1080/17425247.2020.1750593. PMID: 32248713
Nesmelova IV, Melnikova DL, Ranjan V, Skirda VD
Prog Mol Biol Transl Sci 2019;166:85-108. Epub 2019 Jun 8 doi: 10.1016/bs.pmbts.2019.05.004. PMID: 31521238
Le Bihan D
Neuroimage 2019 Feb 15;187:56-67. Epub 2017 Dec 22 doi: 10.1016/j.neuroimage.2017.12.062. PMID: 29277647
Lees KR
Br Med Bull 2000;56(2):401-12. doi: 10.1258/0007142001903049. PMID: 11092089

Prognosis

Gili R, Burioni R
J Transl Med 2023 Apr 10;21(1):251. doi: 10.1186/s12967-023-04095-6. PMID: 37038133Free PMC Article
Tiu VE, Enache I, Panea CA, Tiu C, Popescu BO
Medicina (Kaunas) 2022 Mar 3;58(3) doi: 10.3390/medicina58030377. PMID: 35334554Free PMC Article
Weibel ER
Cell Tissue Res 2017 Mar;367(3):413-426. Epub 2016 Dec 16 doi: 10.1007/s00441-016-2541-4. PMID: 27981379
Nikpour M, Stevens WM, Herrick AL, Proudman SM
Best Pract Res Clin Rheumatol 2010 Dec;24(6):857-69. doi: 10.1016/j.berh.2010.10.007. PMID: 21665131
Mayes MD
Rheum Dis Clin North Am 1996 Nov;22(4):751-64. doi: 10.1016/s0889-857x(05)70299-4. PMID: 8923594

Clinical prediction guides

Gili R, Burioni R
J Transl Med 2023 Apr 10;21(1):251. doi: 10.1186/s12967-023-04095-6. PMID: 37038133Free PMC Article
Panebianco V, Narumi Y, Altun E, Bochner BH, Efstathiou JA, Hafeez S, Huddart R, Kennish S, Lerner S, Montironi R, Muglia VF, Salomon G, Thomas S, Vargas HA, Witjes JA, Takeuchi M, Barentsz J, Catto JWF
Eur Urol 2018 Sep;74(3):294-306. Epub 2018 May 10 doi: 10.1016/j.eururo.2018.04.029. PMID: 29755006Free PMC Article
Weibel ER
Cell Tissue Res 2017 Mar;367(3):413-426. Epub 2016 Dec 16 doi: 10.1007/s00441-016-2541-4. PMID: 27981379
Hegewald MJ
Clin Rev Allergy Immunol 2009 Dec;37(3):159-66. Epub 2009 Mar 31 doi: 10.1007/s12016-009-8125-2. PMID: 19330553
von Albertini B
Contrib Nephrol 2007;158:161-168. doi: 10.1159/000107246. PMID: 17684354

Recent systematic reviews

Kim J, Cho J, Yoon SE, Kim WS, Kim SJ
Cancer Res Treat 2023 Jul;55(3):1031-1047. Epub 2023 Mar 13 doi: 10.4143/crt.2022.1658. PMID: 36915243Free PMC Article
Torres-Castro R, Vasconcello-Castillo L, Alsina-Restoy X, Solis-Navarro L, Burgos F, Puppo H, Vilaró J
Pulmonology 2021 Jul-Aug;27(4):328-337. Epub 2020 Nov 25 doi: 10.1016/j.pulmoe.2020.10.013. PMID: 33262076Free PMC Article
Patanè FG, Liberto A, Maria Maglitto AN, Malandrino P, Esposito M, Amico F, Cocimano G, Rosi GL, Condorelli D, Nunno ND, Montana A
Medicina (Kaunas) 2020 Nov 11;56(11) doi: 10.3390/medicina56110606. PMID: 33187340Free PMC Article
Sandroni C, D'Arrigo S, Cacciola S, Hoedemaekers CWE, Kamps MJA, Oddo M, Taccone FS, Di Rocco A, Meijer FJA, Westhall E, Antonelli M, Soar J, Nolan JP, Cronberg T
Intensive Care Med 2020 Oct;46(10):1803-1851. Epub 2020 Sep 11 doi: 10.1007/s00134-020-06198-w. PMID: 32915254Free PMC Article
Sarmiento A, Diaz-Castro J, Pulido-Moran M, Kajarabille N, Guisado R, Ochoa JJ
Curr Drug Metab 2016;17(4):345-58. doi: 10.2174/1389200216666151103115654. PMID: 26526835

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...