| 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. |
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| 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. |
| Ferguson-Smith syndrome: the importance of long term follow-up. |
| Chakrabarty KH, Perks AG. |
| Br J Plast Surg. 1996 Oct;49(7):497-8. |
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| 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. |
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| 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 |
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| 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. |
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| 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 |
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| 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 |
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