Case report| Volume 60, ISSUE 4, P440-442, April 2007

Download started.


Hypoplastic thumb in Gorlin's syndrome

Published:September 07, 2006DOI:


      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.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of Plastic, Reconstructive & Aesthetic Surgery
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Gailani M.R.
        • Bale S.J.
        • Leffell D.J.
        • et al.
        Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.
        Cell. 1992 Apr 3; 69: 111-117
        • Gorlin R.J.
        Nevoid basal-cell carcinoma syndrome.
        Medicine (Baltimore). 1987 Mar; 66: 98-113
        • Shimkets R.
        • Gailani M.R.
        • Siu V.M.
        • et al.
        Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
        Am J Hum Genet. 1996 Aug; 59: 417-422
        • Kimonis V.E.
        • Mehta S.G.
        • Digiovanna J.J.
        • et al.
        Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
        Genet Med. 2004 Nov–Dec; 6: 495-502
        • Blauth W.
        The hypoplastic thumb.
        Arch Orthop Unfallchir. 1967; 62: 225-246
        • Blauth W.
        • Olason A.T.
        Classification of polydactyly of the hands and feet.
        Arch Orthop Trauma Surg (Historical Archive). 1988 Nov; 107: 334-344
        • Lile H.A.
        • Rogers J.F.
        • Gerald B.
        The basal cell nevus syndrome.
        Am J Roentgen. 1968; 103: 214-217