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Multiple self-healing squamous epithelioma(MSSE)

MedGen UID:
154270
Concept ID:
C0546476
Neoplastic Process
Synonyms: ESS1 (formerly); Ferguson-Smith type epithelioma; MSSE; MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
SNOMED CT: Hereditary keratoacanthoma (716774008); Familial keratoacanthoma (716774008); Multiple familial keratoacanthoma (716774008)
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.
 
Gene (location): TGFBR1 (9q22.33)
 
Monarch Initiative: MONDO:0007566
OMIM®: 132800
Orphanet: ORPHA65748

Definition

Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple self-healing squamous epithelioma
Follow this link to review classifications for Multiple self-healing squamous epithelioma in Orphanet.

Suggested Reading

Recent clinical studies

Etiology

D'Alessandro M, Coats SE, Morley SM, Mackintosh L, Tessari G, Turco A, Gerdes AM, Pichert G, Whittaker S, Brandrup F, Broesby-Olsen S, Gomez-Lira M, Girolomoni G, Maize JC, Feldman RJ, Kato N, Koga Y, Ferguson-Smith MA, Goudie DR, Lane EB
J Invest Dermatol 2007 Oct;127(10):2336-44. Epub 2007 Jun 7 doi: 10.1038/sj.jid.5700914. PMID: 17554363
Richards FM, Goudie DR, Cooper WN, Jene Q, Barroso I, Wicking C, Wainwright BJ, Ferguson-Smith MA
Hum Genet 1997 Dec;101(3):317-22. doi: 10.1007/s004390050635. PMID: 9439661
Ozelius LJ, Kwiatkowski DJ, Schuback DE, Breakefield XO, Wexler NS, Gusella JF, Haines JL
Genomics 1992 Nov;14(3):715-20. doi: 10.1016/s0888-7543(05)80173-9. PMID: 1427899

Diagnosis

Karampinis E, Kostopoulou C, Toli O, Marinos L, Papadimitriou G, Roussaki Schulze AV, Zafiriou E
Medicina (Kaunas) 2024 Feb 22;60(3) doi: 10.3390/medicina60030371. PMID: 38541097Free PMC Article
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M
Eur J Hum Genet 2023 May;31(5):596-601. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01279-4. PMID: 36599937Free PMC Article
Sirisomboonwong KE, Martindale J, Keefe M, Goudie D, Poke G
Am J Med Genet A 2018 Dec;176(12):2892-2895. Epub 2018 Dec 4 doi: 10.1002/ajmg.a.40652. PMID: 30513140
Kwiek B, Schwartz RA
J Am Acad Dermatol 2016 Jun;74(6):1220-33. Epub 2016 Feb 4 doi: 10.1016/j.jaad.2015.11.033. PMID: 26853179
Robertson SJ, Bashir SJ, Pichert G, Robson A, Whittaker S
Clin Exp Dermatol 2010 Jun;35(4):e100-2. Epub 2009 Oct 23 doi: 10.1111/j.1365-2230.2009.03668.x. PMID: 19874360

Therapy

Karampinis E, Kostopoulou C, Toli O, Marinos L, Papadimitriou G, Roussaki Schulze AV, Zafiriou E
Medicina (Kaunas) 2024 Feb 22;60(3) doi: 10.3390/medicina60030371. PMID: 38541097Free PMC Article
Kwiek B, Schwartz RA
J Am Acad Dermatol 2016 Jun;74(6):1220-33. Epub 2016 Feb 4 doi: 10.1016/j.jaad.2015.11.033. PMID: 26853179
Robertson SJ, Bashir SJ, Pichert G, Robson A, Whittaker S
Clin Exp Dermatol 2010 Jun;35(4):e100-2. Epub 2009 Oct 23 doi: 10.1111/j.1365-2230.2009.03668.x. PMID: 19874360

Prognosis

Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M
Eur J Hum Genet 2023 May;31(5):596-601. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01279-4. PMID: 36599937Free PMC Article
Fujiwara T, Takeda N, Hara H, Morita H, Kishihara J, Inuzuka R, Yagi H, Maemura S, Toko H, Harada M, Ikeda Y, Kumagai H, Nomura S, Takimoto E, Akazawa H, Ako J, Komuro I
Eur J Hum Genet 2018 Aug;26(8):1151-1158. Epub 2018 Apr 30 doi: 10.1038/s41431-018-0127-1. PMID: 29706644Free PMC Article
D'Alessandro M, Coats SE, Morley SM, Mackintosh L, Tessari G, Turco A, Gerdes AM, Pichert G, Whittaker S, Brandrup F, Broesby-Olsen S, Gomez-Lira M, Girolomoni G, Maize JC, Feldman RJ, Kato N, Koga Y, Ferguson-Smith MA, Goudie DR, Lane EB
J Invest Dermatol 2007 Oct;127(10):2336-44. Epub 2007 Jun 7 doi: 10.1038/sj.jid.5700914. PMID: 17554363

Clinical prediction guides

Karampinis E, Kostopoulou C, Toli O, Marinos L, Papadimitriou G, Roussaki Schulze AV, Zafiriou E
Medicina (Kaunas) 2024 Feb 22;60(3) doi: 10.3390/medicina60030371. PMID: 38541097Free PMC Article
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M
Eur J Hum Genet 2023 May;31(5):596-601. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01279-4. PMID: 36599937Free PMC Article
Fujiwara T, Takeda N, Hara H, Morita H, Kishihara J, Inuzuka R, Yagi H, Maemura S, Toko H, Harada M, Ikeda Y, Kumagai H, Nomura S, Takimoto E, Akazawa H, Ako J, Komuro I
Eur J Hum Genet 2018 Aug;26(8):1151-1158. Epub 2018 Apr 30 doi: 10.1038/s41431-018-0127-1. PMID: 29706644Free PMC Article
Broesby-Olsen S, Bygum A, Gerdes AM, Brandrup F
Acta Derm Venereol 2008;88(1):52-6. doi: 10.2340/00015555-0359. PMID: 18176752
Krunic AL, Garrod DR, Hunter JA, Clark RE
Arch Dermatol Res 1998 Jun;290(6):319-24. doi: 10.1007/s004030050311. PMID: 9705163

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