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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

Tylosis with esophageal cancer (TOC) is an autosomal dominant syndrome characterized by palmoplantar keratoderma (PPK; see 600962 and 144200), oral precursor lesions, and a high lifetime risk of esophageal cancer (summary by Blaydon et al., 2012). [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, 2024

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
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
Incidence and severity of hand-foot syndrome in colorectal cancer patients treated with capecitabine: a single-institution experience.
Abushullaih S, Saad ED, Munsell M, Hoff PM
Cancer Invest 2002;20(1):3-10. doi: 10.1081/cnv-120000360. PMID: 11853000

Diagnosis

Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge.
Besagni F, Dika E, Ricci C, Misciali C, Veronesi G, Corti B, Gurioli C, Neri I
J Dermatol 2021 Jul;48(7):1101-1105. Epub 2021 May 21 doi: 10.1111/1346-8138.15892. PMID: 34021633Free PMC Article
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
Ocular manifestations of genetic skin disorders.
Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188
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

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
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
Sorafenib-induced palmoplantar hyperkeratosis.
Lountzis NI, Maroon MS
J Drugs Dermatol 2008 Jun;7(6):588-9. PMID: 18561593
Acral and palmo-plantar hyperpigmentation in a patient with disseminated hepatocellular carcinoma.
Goyal R, Chalamalasetty SB, Madan K, Paul SB, Arora R, Safaya R, Acharya SK
Indian J Gastroenterol 2007 Nov-Dec;26(6):292-3. PMID: 18431015

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
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
Incidence and severity of hand-foot syndrome in colorectal cancer patients treated with capecitabine: a single-institution experience.
Abushullaih S, Saad ED, Munsell M, Hoff PM
Cancer Invest 2002;20(1):3-10. doi: 10.1081/cnv-120000360. PMID: 11853000
Scleroatrophic syndrome of Huriez in an infant.
Downs AM, Kennedy CT
Pediatr Dermatol 1998 May-Jun;15(3):207-9. doi: 10.1046/j.1525-1470.1998.1998015207.x. PMID: 9655317

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
Manifestations of Gorlin-Goltz syndrome.
Larsen AK, Mikkelsen DB, Hertz JM, Bygum A
Dan Med J 2014 May;61(5):A4829. PMID: 24814739
Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer.
Iwaya T, Maesawa C, Ogasawara S, Tamura G
Gastroenterology 1998 Jun;114(6):1206-10. doi: 10.1016/s0016-5085(98)70426-3. PMID: 9609757
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

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    • Bookshelf
      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

    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
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
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      Related literature resources in PubMed

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