50:
98:
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
147:
The rhomboid proteases – the first known intramembranous serine proteases – were discovered in 1988. The first rhomboid protease was cloned in 1990 Rhomboid proteases have a core of six transmembrane helices with the active site residues lying in a hydrophilic cavity. Rhomboid family members are
412:
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," "Palmoplantar ectodermal dysplasia type III," "palmoplantar keratoderma associated with
730:
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
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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
589:
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;
317:
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119:(Rhomboid family member 2), which is located on the long arm of chromosome 17 (at 17q25). The mutation responsible for the disease was detected in Finnish, German, UK and US families. The RHBDF2 protein is a member of the intramembranous
701:
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
540:
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
711:
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
656:
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
721:
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
620:
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
179:– 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.
638:
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
629:
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
647:
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
95:) and a high lifetime risk of esophageal cancer (95% develop esophageal cancer by the age of 65). Relapsing cutaneous horns of the lips has been reported in this condition.
477:
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".
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447:
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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
91:
This condition is inherited as an autosomal dominant syndrome and characterized by palmoplantar keratoderma, oral precursor lesions particularly on the gums (
377:
312:
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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
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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
277:
521:
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
105:
gene expression in oesophageal biopsies is significantly reduced (70% reduction) in this condition. The mechanism of this change is not known.
347:
771:
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Bier E, Jan LY, Jan YN (1990) Rhomboid, a gene required for dorsoventral axis establishment and peripheral nervous system development in
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307:
912:
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Hoeger PH, Yates RW, Harper JI (1998) Palmoplantar keratoderma associated with congenital heart disease. Br J Dermatol 138(3):506–509
816:
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Dimsdale H (1949) Hereditary optic atrophy in family with keratodermia palmaris et plantaris (tylosis). Proc R Soc Med 42(10):796
136:
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427:
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is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (
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17:
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Marger RS, Marger D (1993) Carcinoma of the esophagus and tylosis. A lethal genetic combination. Cancer 72(1):17–19
392:
874:
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Fitzgerald DA, Verbov JL (1996) Hereditary palmoplantar keratoderma with deafness. Br J Dermatol 134(5):939–942
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Wong ML, Tay JS (1991) Congenital heart disease in tylosis: case report. J Singapore
Paediatr Soc 33(1–2):45–48
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Ratnavel RC, Griffiths WA (1997) The inherited palmoplantar keratodermas. Br J Dermatol 137(4):485–490
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Mayer U, Nüsslein-Volhard C (1988) A group of genes required for pattern formation in the ventral
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Freeman M (2009) Rhomboids: 7 years of a new protease family. Semin Cell Dev Biol 20(2):231–239
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454:. Genetic and Rare Diseases Information Center (GARD) – NIH. 18 January 2013. Archived from
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have been suggested. Other possible associations include corneal defects, congenital
70:. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).
879:
318:
Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome
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Itin PH, Fistarol SK (2005) Palmoplantar keratodermas. Clin
Dermatol 23(1):15–22
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A third member of this family – RHBDD1 – cleaves Bcl-2-interacting killer (
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is involved in the regulation of the secretion of several ligands of the
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66:). This familial disease is associated with a high lifetime risk of
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5 and 15 years and is strongly associated with esophageal cancer.
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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esophageal cancer," "tylosis" and "tylosis–esophageal cancer"
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The differential diagnosis is quite extensive and includes
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widely conserved and found in all three kingdoms of life.
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Palmoplantar keratoderma and leukokeratosis anogenitalis
786:
James, William; Berger, Timothy; Elston, Dirk (2005).
237:) – appears to be important in head and neck cancer.
151:
RHBDF2 associates with the rhomboid like protease 2 (
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manner, and it has been linked to a mutation in the
18:
Familial keratoderma with carcinoma of the esophagus
834:
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404:Systemic retinoids are the drugs used for tylosis.
37:
32:
123:. It is thought to play an important role in the
222:A related gene – Rhomboid domain containing 2 (
206:, total anomalous pulmonary venous connection
809:Fitzpatrick's Dermatology in General Medicine
8:
303:Hereditary punctate palmoplantar keratoderma
757:
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233:A second related gene – rhomboid family 1 (
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567:embryo. Genes Dev. 1988 Nov;2(11):1496–511
313:Keratosis follicularis spinulosa decalvans
48:
29:
333:Naegeli–Franceschetti–Jadassohn syndrome
923:Genetic disorders with OMIM but no gene
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358:Papillomatosis of Gougerot and Carteaud
255:These proteins may also have a role in
83:gene. It was first described in 1958.
7:
368:Punctate porokeratotic keratoderma
25:
248:member of the B cell lymphoma 2 (
73:The condition is inherited in an
448:"Tylosis with esophageal cancer"
137:epidermal growth factor receptor
378:Schöpf–Schulz–Passarge syndrome
226:) – appears to be important in
187:RHBDF2 may also play a role in
328:Mucosa hyperkeratosis syndrome
308:Jadassohn–Lewandowsky syndrome
278:Buschke–Fischer–Brauer disease
33:Tylosis with esophageal cancer
1:
155:) and inhibits its activity.
428:List of cutaneous conditions
158:Mutations in RHBDF2 inhibit
194:Possible associations with
944:
811:. (6th ed.). McGraw-Hill.
807:Freedberg, et al. (2003).
601:Doi: 10.3892/ijo.2012.1371
127:response to injury in the
913:Palmoplantar keratodermas
764:Dermatology: 2-Volume Set
452:rarediseases.info.nih.gov
363:Papillon–Lefèvre syndrome
189:ovarian epithelial cancer
790:. (10th ed.). Saunders.
580:. Genes Dev 4(2):190–203
423:Palmoplantar keratoderma
373:Richner–Hanhart syndrome
288:Gamborg Nielsen syndrome
283:Curth–Macklin ichthyosis
113:The gene responsible is
578:Drosophila melanogaster
167:Epidermal growth factor
393:Wong's dermatomyositis
268:Differential diagnosis
160:tumour necrosis factor
766:. St. Louis: Mosby.
165:RHBDL2 also acts on
60:Howel–Evans syndrome
388:Vohwinkel syndrome
383:Unna Thost disease
204:pulmonary stenosis
183:Other associations
75:autosomal dominant
900:
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773:978-1-4160-2999-1
458:on 19 August 2014
143:Molecular biology
68:esophageal cancer
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27:Medical condition
16:(Redirected from
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293:Greither disease
121:serine proteases
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353:Pandysautonomia
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218:Related genes
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460:. Retrieved
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87:Presentation
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408:Terminology
200:lung cancer
93:leukoplakia
907:Categories
886:DiseasesDB
565:Drosophila
434:References
252:) family.
131:and skin.
125:epithelial
103:Cytoglobin
928:Syndromes
479:Q. J. Med
462:16 August
400:Treatment
263:Diagnosis
129:esophagus
39:Specialty
590:4(3):R19
561:ectoderm
491:13579162
417:See also
257:diabetes
208:deafness
171:EphrinB3
109:Genetics
880:C536164
563:of the
162:alpha.
869:148500
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794:
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541:Cancer
489:
244:) – a
235:RHBDF1
224:RHBDD2
153:RHBDL2
133:RHBDF2
116:RHBDF2
80:RHBDF2
46:
891:33404
858:Q82.8
250:Bcl-2
875:MeSH
864:OMIM
813:ISBN
792:ISBN
768:ISBN
487:PMID
464:2014
210:and
198:and
169:and
849:ICD
242:BIK
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841:D
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