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.

Tests Available

Forms and Documents

Test Details

TGFBR1
  • Confirmation of the clinical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis in families with a known pathogenic variant
  • Capillary Sequencing

Ordering

512
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ferguson-Smith J. Br J Dermatol 46:267-72, 1934
  2. Goudie DR et al. Nat Genet 43:365-371, 2011
  3. Loeys B et al. N Engl J Med 355:788-98, 2006.
  4. Stheneur C et al. Hum Mutat 29:E284-5, 2008
  5. Breckpot J et al. Eur J Med Genet 53:408-10, 2010