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Palmoplantar keratoderma-esophageal carcinoma syndrome(TOC)

MedGen UID:
324338
Concept ID:
C1835664
Neoplastic Process
Synonyms: Howel-Evans syndrome; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER; Keratosis palmoplantaris with esophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; TOC; Tylosis with esophageal cancer
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): RHBDF2 (17q25.1)
 
Monarch Initiative: MONDO:0007856
OMIM®: 148500
Orphanet: ORPHA2198

Definition

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). [from OMIM]

Clinical features

From HPO
Carcinoma of esophagus
MedGen UID:
56256
Concept ID:
C0152018
Neoplastic Process
The presence of a carcinoma of the esophagus.
Diffuse palmoplantar hyperkeratosis
MedGen UID:
7201
Concept ID:
C0022584
Disease or Syndrome
Diffuse abnormal thickening of the skin on the palms and soles.
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmoplantar keratoderma-esophageal carcinoma syndrome
Follow this link to review classifications for Palmoplantar keratoderma-esophageal carcinoma syndrome in Orphanet.

Professional guidelines

PubMed

Jenkins LE, Abner S, Schadt C
Dermatol Online J 2018 Jun 15;24(6) PMID: 30142717
Ajgal Z, Chapuis N, Emile G, Cessot A, Tigaud JM, Huillard O, Boudou-Rouquette P, Fontenay M, Goldwasser F, Alexandre J
Cancer Chemother Pharmacol 2015 Nov;76(5):1033-9. Epub 2015 Sep 29 doi: 10.1007/s00280-015-2875-8. PMID: 26420236

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024

Recent clinical studies

Etiology

Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J
Int J Dermatol 2022 Sep;61(9):1047-1055. Epub 2021 Sep 8 doi: 10.1111/ijd.15884. PMID: 34494262
Zhao J, Zhang X, Chen Z, Wu JH
Medicine (Baltimore) 2016 Jan;95(2):e2415. doi: 10.1097/MD.0000000000002415. PMID: 26765420Free PMC Article
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919

Diagnosis

Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J
Int J Dermatol 2022 Sep;61(9):1047-1055. Epub 2021 Sep 8 doi: 10.1111/ijd.15884. PMID: 34494262
Palacios-Álvarez I, González-Sarmiento R, Fernández-López E
Actas Dermosifiliogr (Engl Ed) 2018 Apr;109(3):207-217. Epub 2018 Jan 17 doi: 10.1016/j.ad.2017.07.018. PMID: 29373110
Schadt CR
Semin Oncol 2016 Jun;43(3):341-6. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.028. PMID: 27178686
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919

Therapy

Uppala PK, Varghese AM, Yella SST, Velmurugan H, Thangaraju P, Krishna Sasanka KSBS
Infect Disord Drug Targets 2023;23(1):e140622205973. doi: 10.2174/1871526522666220614162117. PMID: 35708076
Zhao J, Zhang X, Chen Z, Wu JH
Medicine (Baltimore) 2016 Jan;95(2):e2415. doi: 10.1097/MD.0000000000002415. PMID: 26765420Free PMC Article
Lal HS
Indian J Dermatol Venereol Leprol 2014 Sep-Oct;80(5):427-30. doi: 10.4103/0378-6323.140302. PMID: 25201844
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Akoglu G
Indian J Pharmacol 2014 Mar-Apr;46(2):225-7. doi: 10.4103/0253-7613.129326. PMID: 24741199Free PMC Article

Prognosis

Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Zhao J, Zhang X, Chen Z, Wu JH
Medicine (Baltimore) 2016 Jan;95(2):e2415. doi: 10.1097/MD.0000000000002415. PMID: 26765420Free PMC Article
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Grundmann JU, Weisshaar E, Franke I, Bonnekoh B, Gollnick H
Int J Dermatol 2003 Jun;42(6):461-3. doi: 10.1046/j.1365-4362.2003.01897.x. PMID: 12786874

Clinical prediction guides

Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Martín-Varillas JL, Atienza-Mateo B, Calvo-Rio V, Beltrán E, Sánchez-Bursón J, Adán A, Hernández-Garfella M, Valls-Pascual E, Sellas-Fernández A, Ortego N, Maíz O, Torre I, Fernández-Espartero C, Jovani V, Peiteado D, Valle DD, Aurrecoechea E, Caracuel MA, García-González AJ, Álvarez ER, Vegas-Revenga N, Demetrio-Pablo R, Castañeda S, González-Gay MA, Hernández JL, Blanco R; Ricardo Blanco on behalf of the Spanish Collaborative Group of Refractory Behçet’s Disease
J Rheumatol 2021 May;48(5):741-750. Epub 2020 Oct 1 doi: 10.3899/jrheum.200300. PMID: 33004539
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Goldstein AM, Pastakia B, DiGiovanna JJ, Poliak S, Santucci S, Kase R, Bale AE, Bale SJ
Am J Med Genet 1994 Apr 15;50(3):272-81. doi: 10.1002/ajmg.1320500311. PMID: 8042672
Su WP, Chun SI, Hammond DE, Gordon H
Pediatr Dermatol 1990 Mar;7(1):33-8. doi: 10.1111/j.1525-1470.1990.tb01070.x. PMID: 2140447

Supplemental Content

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

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024

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