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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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Diffuse palmoplantar hyperkeratosis
MedGen UID:
7201
•Concept ID:
C0022584
•
Disease or Syndrome
Diffuse abnormal thickening of the skin on the palms and soles.
See: Feature record | Search on this feature
Oral mucosa leukoplakia
MedGen UID:
9738
•Concept ID:
C0023532
•
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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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

A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.
Jenkins LE, Abner S, Schadt C
Dermatol Online J 2018 Jun 15;24(6) PMID: 30142717
Risk factors for pegylated liposomal doxorubicin-induced palmar-plantar erythrodysesthesia over time: assessment of monocyte count and baseline clinical parameters.
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, 2023

Recent clinical studies

Etiology

Basal cell nevus syndrome: an update on clinical findings.
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
Manifestations of Gorlin-Goltz syndrome.
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP
Am J Hum Genet 2012 Feb 10;90(2):340-6. Epub 2012 Jan 19 doi: 10.1016/j.ajhg.2011.12.008. PMID: 22265016Free PMC Article
Cutaneous paraneoplasia.
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
Keratitis-ichthyosis-deafness (KID) syndrome.
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919

Diagnosis

Basal cell nevus syndrome: an update on clinical findings.
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
Gorlin Syndrome.
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
The cutaneous manifestations of gastrointestinal malignancy.
Schadt CR
Semin Oncol 2016 Jun;43(3):341-6. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.028. PMID: 27178686
Cutaneous paraneoplasia.
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
Keratitis-ichthyosis-deafness (KID) syndrome.
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919

Therapy

Capecitabine and Hand-foot Syndrome: A Case Report.
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
Hand and foot syndrome secondary to capecitabine.
Lal HS
Indian J Dermatol Venereol Leprol 2014 Sep-Oct;80(5):427-30. doi: 10.4103/0378-6323.140302. PMID: 25201844
Manifestations of Gorlin-Goltz syndrome.
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Docetaxel-induced palmoplantar erythrodysesthesia syndrome and long-lasting multiple nail changes.
Akoglu G
Indian J Pharmacol 2014 Mar-Apr;46(2):225-7. doi: 10.4103/0253-7613.129326. PMID: 24741199Free PMC Article
Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome.
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

Prognosis

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
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
Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma.
Zhao J, Zhang X, Chen Z, Wu JH
Medicine (Baltimore) 2016 Jan;95(2):e2415. doi: 10.1097/MD.0000000000002415. PMID: 26765420Free PMC Article
Manifestations of Gorlin-Goltz syndrome.
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Cutaneous paraneoplasia.
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
Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome.
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

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
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
Long-term Follow-up and Optimization of Infliximab in Refractory Uveitis Due to Behçet Disease: National Study of 103 White Patients.
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
Manifestations of Gorlin-Goltz syndrome.
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC).
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
Pachyonychia congenita: a clinical study of 12 cases and review of the literature.
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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      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, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2023

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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