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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

Additional description

From OMIM
Focal or diffuse nonepidermolytic palmoplantar keratoderma (PPKNEFD) is an autosomal dominant skin disorder in which hyperkeratotic plaques form on palms and soles. Palms may be less affected than soles, with mild nail changes present in some patients. Plaques and blistering may result in severe pain (summary by Wilson et al., 2010).  http://www.omim.org/entry/615735

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

Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
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Recent clinical studies

Etiology

Yuan B, Zhou Z, Jiang B, Kamal GM, Zhang X, Li C, Zhou X, Liu M
Anal Chem 2021 Jul 20;93(28):9697-9703. Epub 2021 Jul 6 doi: 10.1021/acs.analchem.1c00831. PMID: 34227809
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Diagnosis

Tang L, Zhou XJ
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Therapy

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Prognosis

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
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Clinical prediction guides

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Recent systematic reviews

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
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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
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