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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

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
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Recent clinical studies

Etiology

Thawabteh AM, Naseef HA, Karaman D, Bufo SA, Scrano L, Karaman R
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Diagnosis

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Therapy

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Prognosis

Gili R, Burioni R
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Tiu VE, Enache I, Panea CA, Tiu C, Popescu BO
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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
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Recent systematic reviews

Kim J, Cho J, Yoon SE, Kim WS, Kim SJ
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Medicina (Kaunas) 2020 Nov 11;56(11) doi: 10.3390/medicina56110606. PMID: 33187340Free PMC Article
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Curr Drug Metab 2016;17(4):345-58. doi: 10.2174/1389200216666151103115654. PMID: 26526835

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