Summary
Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal
dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas,
and medulloblastomas. This condition is due to mutations in the Patched (PTCH) gene which maps to chromosome 9q22 and acts as a tumour suppressor gene. Gorlin's
syndrome is characterized by the development of multiple jaw keratocysts and/or basal
carcinomas. There is a distinctive coarse facial appearance with macrocephaly, frontal
bossing and prognathism. Most individuals have skeletal anomalies such as bifid ribs
or wedge-shaped vertebrae. We present a case in which the patient presented with bilateral
thumb hypoplasia. Various hand deformities have been reported in patients with Gorlin's
syndrome including short metacarpals, cutaneous syndactyly of the second and third
fingers, and pre- or post-axial polydactyly, but hypoplasia of the thumb has not been
reported previously. These features of Gorlin's syndrome may be helpful diagnostically.
The thumbs should be examined carefully in Gorlin's syndrome patients as minor degrees
of hypoplasia are easy to miss. However, they still needs a specialist input to give
the patient an optimum function of the thumb and the hand.
Keywords
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References
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Article info
Publication history
Published online: September 07, 2006
Accepted:
June 16,
2006
Received:
May 12,
2006
Identification
Copyright
© 2006 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Inc. All rights reserved.
