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Multiple self-healing squamous epithelioma

Written2008-09David R Goudie, Mariella D'Alessandro
East of Scotland Regional Genetics Service, Ninewells Hospital, Medical School, Dundee, DD1 9SY, UK (DRG); Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, MSI/WTB Complex, Dow Street, Dundee DD1 5EH, UK (MDA)

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Identity

Other namesFerguson-Smith disease
Atlas_Id 10041
Genes implicated inTGFBR1  
Note Multiple self-healing squamous epithelioma is characterized by the development of multiple invasive skin tumours with the histological appearances of well differentiated squamous cell carcinomas that resolve spontaneously if left untreated leaving deep pitted scars.
Inheritance Autosomal dominant. Prevalence is unknown but over 100 cases have been reported worldwide with the majority of reported cases originating in Scotland.

Clinics

Phenotype and clinics The age of onset of a first tumour is variable ranging from 8 to 62 years. Further tumours appear episodically throughout life with over a 100 tumours occurring in some more severely affected individuals. Tumours most commonly occur on areas of skin exposed to sunlight (the face, ears and limbs).
Lesions are typically painless. They first appear as red papules and progress to nodules, often with a central keratin plug. Over time the lesions may ulcerate; when ulceration occurs, the edges are typically rolled and undermined. Characteristically these tumours undergo spontaneous regression within 4-6 months, resulting in scars that are typically deep and pitted on the face, scalp and ears. Scars occurring on the limbs tends to be smoother and shallower.
The tumours typically lack the collarette of epidermis on either edge and distinctive eosinophilic cytoplasm commonly observed in keratoacanthomas.
 
 
Neoplastic risk An increased risk of neoplasia at other sites has not been reported. The skin tumours invade locally and may be destructive but do not appear to recur following excision. Aggressive local invasion after radiotherapy has been described.
Treatment Surgical excision of tumours and cryotherapy of early lesions have been the most widely employed treatments. Etretinate was found to reduce the number of new lesions occurring in some patients.
Prognosis Scarring following tumour resolution can be disfiguring. Although tumours can be locally invasive most resolve spontaneously and metastases are very rare.

Genes involved and Proteins

Note The locus has been mapped to a 4Mb region of chromosome 9q22.3 in studies of affected families but the genetic defect causing the condition has not been identified. Loss of heterozygosity for 9q22.3 markers in self-healing epitheliomas is consistent with a tumour suppressor function for the MSSE locus.
Location 9q22.3

Bibliography

Ferguson-Smith syndrome: the importance of long term follow-up.
Chakrabarty KH, Perks AG.
Br J Plast Surg. 1996 Oct;49(7):497-8.
PMID 8983558
 
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?
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.
PMID 17554363
 
Multiple self-healing squamous epithelioma.
Ferguson-Smith MA, Wallace DC, James ZH, Renwick JH.
Birth Defects Orig Artic Ser. 1971 Jun;7(8):157-63.
PMID 5173258
 
Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.
Goudie DR, Yuille MA, Leversha MA, Furlong RA, Carter NP, Lush MJ, Affara NA, Ferguson-Smith MA.
Nat Genet. 1993 Feb;3(2):165-9.
PMID 8499949
 
Mapping the multiple self-healing squamous epithelioma () gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes.
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.
PMID 9439661
 
Self-healing epitheliomata of Ferguson-Smith: cytogenetic and histological studies, and the therapeutic effect of etretinate.
Wright AL, Gawkrodger DJ, Branford WA, McLaren K, Hunter JA.
Dermatologica. 1988;176(1):22-8.
PMID 3338600
 

Citation

This paper should be referenced as such :
Goudie, DR ; D'Alessandro, M
Multiple self-healing squamous epithelioma
Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):686-687.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/MultSelfSquamEpithID10041.html


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