Ferguson-Smith Disease

Ferguson-Smith disease is a rare autosomal dominant disorder that causes affected individuals to develop multiple skin tumors that appear clinically and histologically to be squamous cell epitheliomas (Ferguson-Smith, 1934). Affected individuals develop skin lesions between early childhood and age 60, with the average age of onset in the mid-20s. The lesions are locally invasive and grow rapidly over a period of several weeks, then spontaneously regress (“self-healing”) leaving a pitted scar. The disorder is not fully penetrant, as there are reports of obligate carriers showing no clinical symptoms (17% of mutation carriers, average age 36)( Goudie, 2011). The disorder was initially described in families from Western Scotland, and is present in increased frequency in that population.