Nevoid Basal Cell Carcinoma Syndrome Differential Diagnoses

  • Author: Daniel Berg, MD, FRCP(C); Chief Editor: Dirk M Elston, MD   more...
 
Updated: Sep 14, 2011
 
 

Diagnostic Considerations

The diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) remains a clinical one, despite advances in genetic understanding of this disease.

Radiologic abnormalities, such as rib abnormalities, or asymptomatic findings, such as palmar pits, may be present at a higher frequency in childhood; these findings may be helpful in making an early diagnosis.[14]

Other problems to be considered in the diagnosis of NBCCS include the following:

  • Bazex syndrome (X-linked dominant syndrome with BCCs, follicular atrophoderma, hypertrichosis, and hypohidrosis of the face and the head)
  • Pseudohypoparathyroidism
  • Rombo syndrome
  • Unilateral nevoid BCC with comedones

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Daniel Berg, MD, FRCP(C)  Professor of Dermatology, Director of Dermatologic Surgery, University of Washington School of Medicine

Daniel Berg, MD, FRCP(C) is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Mohs Micrographic Surgery and Cutaneous Oncology, and American Society for Dermatologic Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

R Stan Taylor, MD  The JB Howell Professor in Melanoma Education and Detection, Departments of Dermatology and Plastic Surgery, Director, Skin Surgery and Oncology Clinic, University of Texas Southwestern Medical Center

R Stan Taylor, MD is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Surgery, American Dermatological Association, American Medical Association, American Society for Dermatologic Surgery, Christian Medical & Dental Society, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Edward F Chan, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. Nov 25 2008;3:32. [Medline]. [Full Text].

  2. Epstein EH. Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer. Oct 2008;8(10):743-54. [Medline].

  3. Gorlin RJ. 2004 ASHG Award for Excellence in Human Genetics Education. And the band played on... Am J Hum Genet. Feb 2005;76(2):216-8. [Medline]. [Full Text].

  4. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. Nov-Dec 2004;6(6):530-9. [Medline].

  5. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. Jun 14 1996;85(6):841-51. [Medline].

  6. High A, Zedan W. Basal cell nevus syndrome. Curr Opin Oncol. Mar 2005;17(2):160-6. [Medline].

  7. Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. Jun 14 1996;272(5268):1668-71. [Medline].

  8. Goldstein AM, Bale SJ, Peck GL, DiGiovanna JJ. Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome. J Am Acad Dermatol. Jul 1993;29(1):34-41. [Medline].

  9. Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer. Nov 1991;64(5):959-61. [Medline]. [Full Text].

  10. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. Jun 1993;30(6):460-4. [Medline]. [Full Text].

  11. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). Mar 1987;66(2):98-113. [Medline].

  12. Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. Apr 15 1994;50(3):282-90. [Medline].

  13. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. Mar 31 1997;69(3):299-308. [Medline].

  14. Veenstra-Knol HE, Scheewe JH, van der Vlist GJ, van Doorn ME, Ausems MG. Early recognition of basal cell naevus syndrome. Eur J Pediatr. Mar 2005;164(3):126-30. [Medline].

  15. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. Nov-Dec 2004;6(6):495-502. [Medline].

  16. Ferreres JR, Macaya A, Jucglà A, Muniesa C, Prats C, Peyrí J. Hundreds of basal cell carcinomas in a Gorlin-Goltz syndrome patient cured with imiquimod 5% cream. J Eur Acad Dermatol Venereol. Aug 2006;20(7):877-8. [Medline].

  17. Itkin A, Gilchrest BA. delta-Aminolevulinic acid and blue light photodynamic therapy for treatment of multiple basal cell carcinomas in two patients with nevoid basal cell carcinoma syndrome. Dermatol Surg. Jul 2004;30(7):1054-61. [Medline].

  18. Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, et al. Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Arch Dermatol. Jan 2005;141(1):60-7. [Medline].

  19. Skvara H, Kalthoff F, Meingassner JG, et al. Topical treatment of Basal cell carcinomas in nevoid Basal cell carcinoma syndrome with a smoothened inhibitor. J Invest Dermatol. Aug 2011;131(8):1735-44. [Medline].

 
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Multiple basal cell carcinomas on the back of a patient with nevoid basal cell carcinoma syndrome.
Multiple small papules on the neck and upper trunk in a 10-year-old patient. Biopsy confirmed basal cell carcinoma.
Palmar pits in an adult.
Syndactyly is noted in some affected persons such as this 8-year-old boy.
 
 
 
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