Howel-Evans Syndrome

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Classification according to ICD-10
Q82.8 Lichen pilaris
ICD-10 online (WHO version 2019)

The Howel-Evans syndrome (tylosis) is a very rare congenital disease of the skin with the main features of a hereditary palmoplantar , increased sweating ( hyperhidrosis ) and a greatly increased incidence of esophageal squamous cell carcinoma in later life.

Esophageal cancer occurs in 40 to 100% of people.

The disease can be viewed as paraneoplastic genodermatosis .

Synonyms are: Bennion-Patterson Syndrome; Howell-Evans Syndrome; Palmoplantar Hyperkeratosis - Esophageal Carcinoma; Tylosis - esophageal cancer; Diffuse palmoplantar keratoses with leukoplakia; Keratoderm with esophageal carcinoma; Clark-Howel-Evans-McConnell syndrome; Latin Keratodermia palmo-plantaris diffusa Clarke-Howel = Evans-McConnell; English Tylosis with esophageal cancer; TOC

The first description comes from 1954 by the British doctors CA Clarke and R. B, McConnell.

The name refers to the first author of a report from 1958 by W. Howel-Evans and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

The male sex is more often affected.

root cause

The disease are loss-of-function mutations in RHBDF2 - gene on chromosome 17 locus q25.1 based encoding Phomboid 5 homolog 2 of the rhomboid protease family.

A related gene - RHBDD2 (Rhomboid Domain Containing 2) appears to be associated with breast cancer. A second related gene - rhomboid family 1 (RHBDF1) appears to play a role in head and neck tumors.

Clinical manifestations

Clinical criteria are:

  • Onset of the disease in the 2nd decade of life
  • Symmetrical diffuse palmoplantar keratosis on the palms of the hands and soles of the feet, usually without involvement of the palm or the arch of the foot, leukokeratosis and lichen pilaris
  • Hyperhidrosis
  • in later adulthood with 70% development of a squamous cell carcinoma mostly in the lower third of the esophagus around the age of 50 with an increase in the risk to 95% by the age of 65
  • Improvement in keratosis after cancer surgery
  • often also leukoplakia of the oral mucosa

Differential diagnosis

There are a number of dermatological and genetic diseases that belong to the differential diagnosis:

treatment

Systemic retinoids are used to treat tylosis. The hyperhidrosis occurs symptomatically with botulinum toxin A. Treatment of esophageal carcinoma follows the guidelines for the treatment of esophageal carcinoma. If the risk of developing esophageal carcinoma is very high after the age of 40, regular esophago-gastro-duodenoscopy could lead to early diagnosis of esophageal carcinoma and an improvement in overall survival.

literature

  • A. Ellis, JM Risk, T. Maruthappu, DP Kelsell: Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms. In: Orphanet Journal of Rare Diseases. Volume 10, September 2015, p. 126, doi: 10.1186 / s13023-015-0346-2 , PMID 26419362 , PMC 4589029 (free full text) (review).
  • LE Jenkins, S. Abner, C. Schadt: A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome. In: Dermatology online journal. Volume 24, Number 6, June 2018, pp. PMID 30142717 .

Individual evidence

  1. ↑ a b Palmoplantar Keratosis - Esophageal Carcinoma. In: Orphanet (Rare Disease Database).
  2. ↑ a b c Encyclopedia Dermatology
  3. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  4. ↑ Michael Stahl, Salah-Eddin Al-Batran, Markus Borner, Ines Gockel, Lars Grenacher, Holger Hass, Dieter Köberle, Markus Möhler, Rainer Porschen, Ron Pritzkuleit, Holger Rumpold, Martin Stuschke, Marianne Sinn: Esophageal carcinoma. In: Onkopedia. December 2018, accessed March 28, 2020 .
  5. ^ CA Clarke, RB McConnell: Six cases of carcinoma of the esophagus occurring in one family. In: British medical journal. Volume 2, number 4897, November 1954, pp. 1137-1138, doi: 10.1136 / bmj.2.4897.1137 , PMID 13209063 , PMC 2079979 (free full text).
  6. ^ A b W. Howel-Evans, RB McConnell, CA Clarke, PM Sheppard: Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families. In: The Quarterly journal of medicine. Volume 27, Number 107, July 1958, pp. 413-429, PMID 13579162 .
  7. ↑ tylosis with esophageal cancer 148,500th  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ DC Blaydon, SL Etheridge, JM Risk, HC Hennies, LJ Gay, R. Carroll, V. Plagnol, FE McRonald, HP Stevens, NK Spurr, DT Bishop, A. Ellis, J. Jankowski, JK Field, IM Leigh, AP South, DP Kelsell: RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. In: American Journal of Human Genetics . Volume 90, number 2, February 2012, pp. 340–346, doi: 10.1016 / j.ajhg.2011.12.008 , PMID 22265016 , PMC 3276661 (free full text).
  9. ↑ MC Abba, E. Lacunza, MI Nunez, A. Colussi, M. Isla-Larrain, A. Segal-Eiras, MV Croce, CM Aldaz: Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene over-expressed in breast cancer. In: Biochimica et Biophysica Acta . Volume 1792, number 10, October 2009, pp. 988-997, doi: 10.1016 / j.bbadis.2009.07.006 , PMID 19616622 , PMC 2776639 (free full text).
  10. ↑ H. Zou, SM Thomas, ZW Yan, JR Grandis, A. Vogt, LY Li: Human rhomboid family-1 gene RHBDF1 participates in GPCR-mediated transactivation of EGFR growth signals in head and neck squamous cancer cells. In: FASEB Journal . Volume 23, number 2, February 2009, pp. 425-432, doi: 10.1096 / fj.08-112771 , PMID 18832597 , PMC 2638965 (free full text).
  11. ↑ S. Schiller, C. Seebode u. a .: Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. In: JDDG: Journal of the German Dermatological Society. 12, 2014, p. 781, doi: 10.1111 / ddg.12418 .
  12. ↑ RC Ratnavel, WA Griffiths: The inherited palmoplantar keratodermas. In: The British journal of dermatology. Volume 137, Number 4, October 1997, pp. 485-490, doi : 10.1111 / j.1365-2133.1997.tb03776.x , PMID 9390321 (review).
  13. ↑ G. Plewig, M. Heckmann: Treatment of hyperhidrosis with botulinum toxin-A. In: Dtsch Arztebl 2000; 97 (43).
  14. ↑ Marger RS, Marger D (1993) Carcinoma of the esophagus and tylosis. A lethal genetic combination. Cancer 72 (1): 17-19.
  15. ↑ Tylosis with esophageal cancer (Last updated: 1/18/2013). [1]

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