FERGUSON-SMITH-TYPE SELF-HEALING EPITHELIOMA
(Multiple Self-Healing Squamous Epithelioma)
This is a rare, dominantly inherited disorder, which was first reported in people of Scottish descent, from Ayrshire (Shaw Dunn and Ferguson Smith 1934). It was thought that all cases are possibly descended from one individual (a founder effect), but recently the causal gene has been identified (TGFBR1) on chromosome 9q31-32 (Bose et al. 2006; Goudie et al. 2011a), and several different mutations were identified indicating that this is not so. Loss of function mutations in the TGFBR1 gene has been found to underlie the disease. Interestingly missense mutations in this gene cause Marfan- related disorders with vascular involvement but no cancer susceptibility (Goudie et al. 1991, 2011a, b).
The condition is characterized by the postpubertal appearance of multiple cutaneous keratoacanthomas (Fig. 10.5), which enlarge, ulcerate, and eventually heal, sometimes with calcification, to leave pitted, irregular scars which can be very disfiguring. Most lesions occur on the head and neck, in exposed areas of skin, especially where pilosebaceous follicles are found.
The lesions resemble squamous cell carcinomas, but metastasize only very rarely (to lymph nodes) and do not generally behave in an aggressive fashion. In the past, treatment for the lesions (e.g., radiotherapy) has appeared to increase the invasiveness of the Tumours as has been reported in the basal cell nevus syndrome as described above (Robertson et al. 2010; Orlow 1997; Griffiths 2002; Shiflett et al. 2002; Ward et al. 2002). There is marked variation in the age at onset and number of lesions in different affected individuals. Rarely Tumours are seen in extracutaneous sites in affected patients, such as anal Tumours and SCC like lesions of the vulva. Management is by sun protection, which is important (without resulting in vitamin D deficiency), and the avoidance of radiotherapy was possible. The use of acitretin has been reported for advanced disease (Robertson et al. 2010), and this has been found to be helpful in controlling cutaneous lesions.
Fig. 1 A keratoacanthoma on the ear of a lady with self-healing epitheliomas of Ferguson Smith