fbpx
Wikipedia

Howel–Evans syndrome

January 01, 1970

Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).[1]

Tylosis with esophageal cancer
SpecialtyMedical genetics 

The condition is inherited in an autosomal dominant manner, and it has been linked to a mutation in the RHBDF2 gene. It was first described in 1958.[2]

Presentation edit

This condition is inherited as an autosomal dominant syndrome and characterized by palmoplantar keratoderma, oral precursor lesions particularly on the gums (leukoplakia) and a high lifetime risk of esophageal cancer (95% develop esophageal cancer by the age of 65).[3] Relapsing cutaneous horns of the lips has been reported in this condition.[4]

There are several types of this condition have been described – epidermolytic (Vörner type) and non-epidermolytic. Another classification divides these into an early onset type (type B) which occurs in the first year of life and is usually benign and a type A tylosis which occurs between the ages of 5 and 15 years and is strongly associated with esophageal cancer.[5]

Cytoglobin gene expression in oesophageal biopsies is significantly reduced (70% reduction) in this condition.[6] The mechanism of this change is not known.

Genetics edit

The gene responsible is RHBDF2 (Rhomboid family member 2), which is located on the long arm of chromosome 17 (at 17q25).[7] The mutation responsible for the disease was detected in Finnish, German, UK and US families. The RHBDF2 protein is a member of the intramembranous serine proteases. It is thought to play an important role in the epithelial response to injury in the esophagus and skin. RHBDF2 is involved in the regulation of the secretion of several ligands of the epidermal growth factor receptor.

Molecular biology edit

The rhomboid proteases – the first known intramembranous serine proteases[8] – were discovered in 1988.[9] The first rhomboid protease was cloned in 1990[10] Rhomboid proteases have a core of six transmembrane helices with the active site residues lying in a hydrophilic cavity. Rhomboid family members are widely conserved and found in all three kingdoms of life.[11]

RHBDF2 associates with the rhomboid like protease 2 (RHBDL2) and inhibits its activity.

Mutations in RHBDF2 inhibit tumour necrosis factor alpha.

RHBDL2 also acts on Epidermal growth factor and EphrinB3.

Thrombomodulin – a membrane glycoprotein – is upregulated in neoepidermis during cutaneous wound healing. RHBDL2 cleaves thrombomodulin at the transmembrane domain and causes the release of soluble thrombomodulin.

Other associations edit

RHBDF2 may also play a role in ovarian epithelial cancer.[12]

Possible associations with gastric cancer[13][14] and lung cancer[15][16][17][18] have been suggested. Other possible associations include corneal defects, congenital pulmonary stenosis,[19] total anomalous pulmonary venous connection[20] deafness[21] and optic atrophy.[22]

Related genes edit

A related gene – Rhomboid domain containing 2 (RHBDD2) – appears to be important in breast cancer.[23]

A second related gene – rhomboid family 1 (RHBDF1) – appears to be important in head and neck cancer.[24]

A third member of this family – RHBDD1 – cleaves Bcl-2-interacting killer (BIK) – a proapoptotic member of the B cell lymphoma 2 (Bcl-2) family.[25]

These proteins may also have a role in diabetes.[26]

Diagnosis edit

Differential diagnosis edit

The differential diagnosis is quite extensive and includes[27][28]

Treatment edit

Systemic retinoids are the drugs used for tylosis.

Terminology edit

The condition is also referred to by several other names, including "familial keratoderma with carcinoma of the esophagus," "focal non-epidermolytic palmoplantar keratoderma with carcinoma of the esophagus,"[29] "Palmoplantar ectodermal dysplasia type III," "palmoplantar keratoderma associated with esophageal cancer," "tylosis"[30]: 213 [31]: 511  and "tylosis–esophageal cancer"[29]

See also edit

References edit

  1. ^ "Tylosis with esophageal cancer". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center (GARD) – NIH. 18 January 2013. Retrieved 16 August 2014.
  2. ^ Howel-Evans, W; McConnell, RB; Clarke, CA; Sheppard, PM (July 1958). "Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families". Q. J. Med. 27 (107): 413–29. PMID 13579162.
  3. ^ Marger RS, Marger D (1993) Carcinoma of the esophagus and tylosis. A lethal genetic combination. Cancer 72(1):17–19
  4. ^ Baykal C, Savci N, Kavak A, Kurul S (2002) Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips. Br J Dermatol 146(4):680–683
  5. ^ Maillefer RH, Greydanus MP (1999) To B or not to B: is tylosis B truly benign? Two North American genealogies. Am J Gastroenterol 94(3):829–834
  6. ^ McRonald FE, Liloglou T, Xinarianos G, Hill L, Rowbottom L, Langan JE, Ellis A, Shaw JM, Field JK, Risk JM (2006) Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression. Hum Mol Genet 15(8):1271–1277
  7. ^ Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA (2012) Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. Fam Cancer
  8. ^ Freeman M (2009) Rhomboids: 7 years of a new protease family. Semin Cell Dev Biol 20(2):231–239
  9. ^ Mayer U, Nüsslein-Volhard C (1988) A group of genes required for pattern formation in the ventral ectoderm of the Drosophila embryo. Genes Dev. 1988 Nov;2(11):1496–511
  10. ^ Bier E, Jan LY, Jan YN (1990) Rhomboid, a gene required for dorsoventral axis establishment and peripheral nervous system development in Drosophila melanogaster. Genes Dev 4(2):190–203
  11. ^ Koonin EV, Makarova KS, Rogozin IB, Davidovic L, Letellier MC, Pellegrini L (2003) The rhomboids: a nearly ubiquitous family of intramembrane serine proteases that probably evolved by multiple ancient horizontal gene transfers. Genome Biol. 2003; 4(3):R19
  12. ^ Wojnarowicz PM, Provencher DM, Mes-Masson A-M, Tonin PN (2012) Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer. Int J Oncol 40 (6) 1865-1880 Doi: 10.3892/ijo.2012.1371
  13. ^ Wagle PK, Shetty TS, Darbari A, Tapia AA, Katrak MP, Joshi RM (2002) Carcinoma of stomach in a patient with familial tylosis. Indian J Gastroenterol 21(6):227
  14. ^ Murata I, Ogami Y, Nagai Y, Furumi K, Yoshikawa I, Otsuki M (1998) Carcinoma of the stomach with hyperkeratosis palmaris et plantaris and acanthosis of the esophagus. Am J Gastroenterol 93(3):449–451
  15. ^ Grundmann JU, Weisshaar E, Franke I, Bonnekoh B, Gollnick H (2003) Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome. Int J Dermatol 42(6):461–463
  16. ^ Nomori H, Horio H, Iga R, Fuyuno G, Kobayashi R, Morinaga S (1996) Squamous cell carcinoma of the lung associated with palmo-plantar hyperkeratosis. Nihon Kyobu Shikkan Gakkai Zasshi 34(1):76–79
  17. ^ Khanna SK, Agnone FA, Leibowitz AI, Raschke RA, Trehan M (1993) Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma. J Am Acad Dermatol 28(2 Pt 2):295–297
  18. ^ Murata Y, Kumano K, Tani M, Saito N, Kagotani K (1988) Acquired diffuse keratoderma of the palms and soles with bronchial carcinoma: report of a case and review of the literature. Arch Dermatol 124(4):497–498
  19. ^ Wong ML, Tay JS (1991) Congenital heart disease in tylosis: case report. J Singapore Paediatr Soc 33(1–2):45–48
  20. ^ Hoeger PH, Yates RW, Harper JI (1998) Palmoplantar keratoderma associated with congenital heart disease. Br J Dermatol 138(3):506–509
  21. ^ Fitzgerald DA, Verbov JL (1996) Hereditary palmoplantar keratoderma with deafness. Br J Dermatol 134(5):939–942
  22. ^ Dimsdale H (1949) Hereditary optic atrophy in family with keratodermia palmaris et plantaris (tylosis). Proc R Soc Med 42(10):796
  23. ^ Abba MC, Lacunza E, Nunez MI, Colussi A, Isla-Larrain M, Segal-Eiras A, Croce MV, Aldaz CM (2009) Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene over-expressed in breast cancer. Biochim Biophys Acta 1792(10):988–997
  24. ^ Zou H, Thomas SM, Yan ZW, Grandis JR, Vogt A, Li LY (2009) Human rhomboid family-1 gene RHBDF1 participates in GPCR-mediated transactivation of EGFR growth signals in head and neck squamous cancer cells. FASEB J 23(2):425–432
  25. ^ Wang Y, Guan X, Fok KL, Li S, Zhang X, Miao S, Zong S, Koide SS, Chan HC, Wang L (2008) A novel member of the Rhomboid family, RHBDD1, regulates BIK-mediated apoptosis. Cell Mol Life Sci 65(23):3822–3829
  26. ^ Walder K, Kerr-Bayles L, Civitarese A, Jowett J, Curran J, Elliott K, Trevaskis J, Bishara N, Zimmet P, Mandarino L, Ravussin E, Blangero J, Kissebah A, Collier GR (2005) The mitochondrial rhomboid protease PSARL is a new candidate gene for type 2 diabetes. Diabetologia 48(3):459–468
  27. ^ Itin PH, Fistarol SK (2005) Palmoplantar keratodermas. Clin Dermatol 23(1):15–22
  28. ^ Ratnavel RC, Griffiths WA (1997) The inherited palmoplantar keratodermas. Br J Dermatol 137(4):485–490
  29. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  30. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  31. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

External links edit

January 01, 1970
howel, evans, syndrome, extremely, rare, condition, involving, thickening, skin, palms, hands, soles, feet, hyperkeratosis, this, familial, disease, associated, with, high, lifetime, risk, esophageal, cancer, this, reason, sometimes, known, tylosis, with, oeso. Howel Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet hyperkeratosis This familial disease is associated with a high lifetime risk of esophageal cancer For this reason it is sometimes known as tylosis with oesophageal cancer TOC 1 Tylosis with esophageal cancerSpecialtyMedical genetics The condition is inherited in an autosomal dominant manner and it has been linked to a mutation in the RHBDF2 gene It was first described in 1958 2 Contents 1 Presentation 2 Genetics 3 Molecular biology 3 1 Other associations 3 2 Related genes 4 Diagnosis 4 1 Differential diagnosis 5 Treatment 6 Terminology 7 See also 8 References 9 External linksPresentation editThis condition is inherited as an autosomal dominant syndrome and characterized by palmoplantar keratoderma oral precursor lesions particularly on the gums leukoplakia and a high lifetime risk of esophageal cancer 95 develop esophageal cancer by the age of 65 3 Relapsing cutaneous horns of the lips has been reported in this condition 4 There are several types of this condition have been described epidermolytic Vorner type and non epidermolytic Another classification divides these into an early onset type type B which occurs in the first year of life and is usually benign and a type A tylosis which occurs between the ages of 5 and 15 years and is strongly associated with esophageal cancer 5 Cytoglobin gene expression in oesophageal biopsies is significantly reduced 70 reduction in this condition 6 The mechanism of this change is not known Genetics editThe gene responsible is RHBDF2 Rhomboid family member 2 which is located on the long arm of chromosome 17 at 17q25 7 The mutation responsible for the disease was detected in Finnish German UK and US families The RHBDF2 protein is a member of the intramembranous serine proteases It is thought to play an important role in the epithelial response to injury in the esophagus and skin RHBDF2 is involved in the regulation of the secretion of several ligands of the epidermal growth factor receptor Molecular biology editThe rhomboid proteases the first known intramembranous serine proteases 8 were discovered in 1988 9 The first rhomboid protease was cloned in 1990 10 Rhomboid proteases have a core of six transmembrane helices with the active site residues lying in a hydrophilic cavity Rhomboid family members are widely conserved and found in all three kingdoms of life 11 RHBDF2 associates with the rhomboid like protease 2 RHBDL2 and inhibits its activity Mutations in RHBDF2 inhibit tumour necrosis factor alpha RHBDL2 also acts on Epidermal growth factor and EphrinB3 Thrombomodulin a membrane glycoprotein is upregulated in neoepidermis during cutaneous wound healing RHBDL2 cleaves thrombomodulin at the transmembrane domain and causes the release of soluble thrombomodulin Other associations edit RHBDF2 may also play a role in ovarian epithelial cancer 12 Possible associations with gastric cancer 13 14 and lung cancer 15 16 17 18 have been suggested Other possible associations include corneal defects congenital pulmonary stenosis 19 total anomalous pulmonary venous connection 20 deafness 21 and optic atrophy 22 Related genes edit A related gene Rhomboid domain containing 2 RHBDD2 appears to be important in breast cancer 23 A second related gene rhomboid family 1 RHBDF1 appears to be important in head and neck cancer 24 A third member of this family RHBDD1 cleaves Bcl 2 interacting killer BIK a proapoptotic member of the B cell lymphoma 2 Bcl 2 family 25 These proteins may also have a role in diabetes 26 Diagnosis editDifferential diagnosis edit The differential diagnosis is quite extensive and includes 27 28 Buschke Fischer Brauer disease Curth Macklin ichthyosis Gamborg Nielsen syndrome Greither disease Haber syndrome Hereditary punctate palmoplantar keratoderma Jadassohn Lewandowsky syndrome Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Meleda disease Mucosa hyperkeratosis syndrome Naegeli Franceschetti Jadassohn syndrome Naxos disease Olmsted syndrome Palmoplantar keratoderma and leukokeratosis anogenitalis Pandysautonomia Papillomatosis of Gougerot and Carteaud Papillon Lefevre syndrome Punctate porokeratotic keratoderma Richner Hanhart syndrome Schopf Schulz Passarge syndrome Unna Thost disease Vohwinkel syndrome Wong s dermatomyositisTreatment editSystemic retinoids are the drugs used for tylosis Terminology editThe condition is also referred to by several other names including familial keratoderma with carcinoma of the esophagus focal non epidermolytic palmoplantar keratoderma with carcinoma of the esophagus 29 Palmoplantar ectodermal dysplasia type III palmoplantar keratoderma associated with esophageal cancer tylosis 30 213 31 511 and tylosis esophageal cancer 29 See also editPalmoplantar keratoderma List of cutaneous conditionsReferences edit Tylosis with esophageal cancer rarediseases info nih gov Genetic and Rare Diseases Information Center GARD NIH 18 January 2013 Retrieved 16 August 2014 Howel Evans W McConnell RB Clarke CA Sheppard PM July 1958 Carcinoma of the oesophagus with keratosis palmaris et plantaris tylosis a study of two families Q J Med 27 107 413 29 PMID 13579162 Marger RS Marger D 1993 Carcinoma of the esophagus and tylosis A lethal genetic combination Cancer 72 1 17 19 Baykal C Savci N Kavak A Kurul S 2002 Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips Br J Dermatol 146 4 680 683 Maillefer RH Greydanus MP 1999 To B or not to B is tylosis B truly benign Two North American genealogies Am J Gastroenterol 94 3 829 834 McRonald FE Liloglou T Xinarianos G Hill L Rowbottom L Langan JE Ellis A Shaw JM Field JK Risk JM 2006 Down regulation of the cytoglobin gene located on 17q25 in tylosis with oesophageal cancer TOC evidence for trans allele repression Hum Mol Genet 15 8 1271 1277 Saarinen S Vahteristo P Lehtonen R Aittomaki K Launonen V Kiviluoto T Aaltonen LA 2012 Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer Fam Cancer Freeman M 2009 Rhomboids 7 years of a new protease family Semin Cell Dev Biol 20 2 231 239 Mayer U Nusslein Volhard C 1988 A group of genes required for pattern formation in the ventral ectoderm of the Drosophila embryo Genes Dev 1988 Nov 2 11 1496 511 Bier E Jan LY Jan YN 1990 Rhomboid a gene required for dorsoventral axis establishment and peripheral nervous system development in Drosophila melanogaster Genes Dev 4 2 190 203 Koonin EV Makarova KS Rogozin IB Davidovic L Letellier MC Pellegrini L 2003 The rhomboids a nearly ubiquitous family of intramembrane serine proteases that probably evolved by multiple ancient horizontal gene transfers Genome Biol 2003 4 3 R19 Wojnarowicz PM Provencher DM Mes Masson A M Tonin PN 2012 Chromosome 17q25 genes RHBDF2 and CYGB in ovarian cancer Int J Oncol 40 6 1865 1880 Doi 10 3892 ijo 2012 1371 Wagle PK Shetty TS Darbari A Tapia AA Katrak MP Joshi RM 2002 Carcinoma of stomach in a patient with familial tylosis Indian J Gastroenterol 21 6 227 Murata I Ogami Y Nagai Y Furumi K Yoshikawa I Otsuki M 1998 Carcinoma of the stomach with hyperkeratosis palmaris et plantaris and acanthosis of the esophagus Am J Gastroenterol 93 3 449 451 Grundmann JU Weisshaar E Franke I Bonnekoh B Gollnick H 2003 Lung carcinoma with congenital plantar keratoderma as a variant of Clarke Howel Evans syndrome Int J Dermatol 42 6 461 463 Nomori H Horio H Iga R Fuyuno G Kobayashi R Morinaga S 1996 Squamous cell carcinoma of the lung associated with palmo plantar hyperkeratosis Nihon Kyobu Shikkan Gakkai Zasshi 34 1 76 79 Khanna SK Agnone FA Leibowitz AI Raschke RA Trehan M 1993 Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma J Am Acad Dermatol 28 2 Pt 2 295 297 Murata Y Kumano K Tani M Saito N Kagotani K 1988 Acquired diffuse keratoderma of the palms and soles with bronchial carcinoma report of a case and review of the literature Arch Dermatol 124 4 497 498 Wong ML Tay JS 1991 Congenital heart disease in tylosis case report J Singapore Paediatr Soc 33 1 2 45 48 Hoeger PH Yates RW Harper JI 1998 Palmoplantar keratoderma associated with congenital heart disease Br J Dermatol 138 3 506 509 Fitzgerald DA Verbov JL 1996 Hereditary palmoplantar keratoderma with deafness Br J Dermatol 134 5 939 942 Dimsdale H 1949 Hereditary optic atrophy in family with keratodermia palmaris et plantaris tylosis Proc R Soc Med 42 10 796 Abba MC Lacunza E Nunez MI Colussi A Isla Larrain M Segal Eiras A Croce MV Aldaz CM 2009 Rhomboid domain containing 2 RHBDD2 a novel cancer related gene over expressed in breast cancer Biochim Biophys Acta 1792 10 988 997 Zou H Thomas SM Yan ZW Grandis JR Vogt A Li LY 2009 Human rhomboid family 1 gene RHBDF1 participates in GPCR mediated transactivation of EGFR growth signals in head and neck squamous cancer cells FASEB J 23 2 425 432 Wang Y Guan X Fok KL Li S Zhang X Miao S Zong S Koide SS Chan HC Wang L 2008 A novel member of the Rhomboid family RHBDD1 regulates BIK mediated apoptosis Cell Mol Life Sci 65 23 3822 3829 Walder K Kerr Bayles L Civitarese A Jowett J Curran J Elliott K Trevaskis J Bishara N Zimmet P Mandarino L Ravussin E Blangero J Kissebah A Collier GR 2005 The mitochondrial rhomboid protease PSARL is a new candidate gene for type 2 diabetes Diabetologia 48 3 459 468 Itin PH Fistarol SK 2005 Palmoplantar keratodermas Clin Dermatol 23 1 15 22 Ratnavel RC Griffiths WA 1997 The inherited palmoplantar keratodermas Br J Dermatol 137 4 485 490 a b Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders ISBN 0 7216 2921 0 Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill ISBN 0 07 138076 0 External links edit Retrieved from https en wikipedia org w index php title Howel Evans syndrome amp oldid 1116820696, wikipedia, wiki, book, books, library,

article

, read, download, free, free download, mp3, video, mp4, 3gp, jpg, jpeg, gif, png, picture, music, song, movie, book, game, games.