Which physical findings are characteristic of basal cell nevus syndrome (Gorlin syndrome)?

Updated: Mar 02, 2020
  • Author: Robert S Bader, MD; Chief Editor: William D James, MD  more...
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Basal cell carcinoma (BCC) is also a feature of basal cell nevus syndrome (ie, Gorlin syndrome), [58] an autosomal dominant inherited condition. The lesions in these patients cannot be distinguished histologically from ordinary BCCs. The gene responsible for this syndrome is located on arm 9q, and chromosome abnormalities develop in some patients. The number of BCCs in patients with this syndrome may number from one to hundreds. Multiple BCCs begin to appear after puberty on the face, trunk, and extremities. In many cases, the tumors are highly invasive and may involve areas around the eyes and nose. [59]

Other features associated with Gorlin syndrome (fortunately, uncommon) include the following [60] :

  • Mental retardation

  • Congenital agenesis of the corpus callosum and medulloblastoma

  • Odontogenic jaw cysts

  • Bifid ribs and pectus excavatum

  • Absent or undescended testes

  • Mesenteric lymphatic cysts

  • Palmar and plantar pits

  • Ectopic calcification (particularly of the falx cerebri)

  • Ocular and skeletal abnormalities (eg, hypertelorism, shortening of the fourth and fifth metacarpals)

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