eMedicine Specialties > Dermatology > Malignant Neoplasms

Nevoid Basal Cell Carcinoma Syndrome: Differential Diagnoses & Workup

Author: Daniel Berg, MD, FRCP(C), Professor of Dermatology, Director of Dermatologic Surgery, University of Washington School of Medicine
Contributor Information and Disclosures

Updated: Mar 12, 2009

Differential Diagnoses

Fibrous Papule of the Face
Milia
Nevi, Melanocytic
Seborrheic Keratosis

Other Problems to Be Considered

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

Workup

Laboratory Studies

  • No routine laboratory studies are helpful for nevoid basal cell carcinoma syndrome (NBCCS).
  • Molecular genetic testing: Although the diagnosis is usually made in adults or older children based on clinical findings, molecular testing is available to confirm the diagnosis in patients with atypical findings or possibly for prenatal diagnosis. Molecular testing may be useful for infants of an affected patient who is too young too have developed diagnostic clinical findings. Because of imperfect sensitivity and specificity, genetic testing should be performed in conjunction with a genetic counselor. Availability and methodology of testing may change with time; this is another reason genetic counseling is recommended. Current and updated information on available genetic testing is available through GeneTests.

Imaging Studies

  • Radiography14
    • Skull radiography: Calcification of the falx cerebri is the most common radiologic finding, occurring in 65-92% of individuals and seen on anteroposterior skull radiographs. This finding is age-related; in one study, this finding was observed in 37% of patients younger than 20 years and in 77-79% of patients older than 20 years. This finding may also be seen in approximately 5% of unaffected individuals. Calcification of the tentorium cerebelli is observed in 20-40% of patients. This is more typically seen on lateral skull radiographs. Calcification of the petroclinoid ligament, pia, and choroid plexus may also be observed. Calcification of the diaphragma sellae may be observed in 60-80% of patients with NBCCS, compared with 4% of the healthy population. Recent studies have suggested both a lower prevalence in people affected and a higher prevalence in unaffected relatives, making this finding less specific.
    • Skeletal radiography: Bifid, hypoplastic, fused, partially missing, or splayed ribs are observed in 38-60% of patients. These features may be a helpful diagnostic criterion because it is present in children before other features may show up and because it is uncommon in the general population. Most commonly affected ribs are the 3rd, 4th and 5th though others may be involved. It is important that the radiologist specifically look for these features in order not to overlook them. Malformations at the occipitovertebral junction and cervical or upper thoracic vertebral fusion may also be observed. Calcification of the nuchal ligament occurred in one study in 18% of affected people. Small, pseudocystic, lytic bone lesions known as "flame-shaped lucencies" are found on radiographs of the hands (30%) and feet (17%) of affected people.
    • Dental panoramic radiography: This screening is useful for the finding of odontogenic keratocysts, which are relatively common in NBCCS. When monitoring a child with NBCCS, consider regular dental visits plus panoramic radiography to detect odontogenic keratocysts.
  • Cardiac echocardiography: This study may be used to look for cardiac fibroma (relatively rare). In patients with NBCCS, one might consider a baseline test at birth and subsequently if clinical suspicion arises for cardiac fibroma.
  • MRI of the head: MRI may be more sensitive than plain radiography for calcification, and it may be indicated if medulloblastoma is suspected in a child with NBCCS. Because of the concern about exposure to radiation in patients with the syndrome, MRI is the preferred imaging modality over CT scanning. Consider an annual MRI up to age 7 years.
  • Pelvic ultrasonography: Consider performing ultrasonography around puberty as a baseline and, then, if symptoms are present, to look for ovarian fibromas.

Other Tests

  • Physical examination for the cutaneous and extracutaneous features of NBCCS may be helpful in finding criteria to make the diagnosis in uncertain cases.

Procedures

  • Biopsy of skin lesions: The histologic features of the individual skin cancers are indistinguishable from ordinary BCC and include the full spectrum of histologic subtypes.
  • Biopsy of jaw cysts: Odontogenic keratocysts have a characteristic pathologic finding that shows the lining with keratinizing epithelium.

More on Nevoid Basal Cell Carcinoma Syndrome

Overview: Nevoid Basal Cell Carcinoma Syndrome
Differential Diagnoses & Workup: Nevoid Basal Cell Carcinoma Syndrome
Treatment & Medication: Nevoid Basal Cell Carcinoma Syndrome
Follow-up: Nevoid Basal Cell Carcinoma Syndrome
Multimedia: Nevoid Basal Cell Carcinoma Syndrome
References
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References

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

  6. Kimonis VE, Goldstein AM, Pastakia B, 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].

  7. 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].

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  9. Hahn H, Wicking C, Zaphiropoulous PG, 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].

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  15. 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].

  16. Oseroff AR, Shieh S, Frawley NP, 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].

  17. Ferreres JR, Macaya A, Jucgla A, Muniesa C, Prats C, Peyri 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].

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Further Reading

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Keywords

nevoid basal cell carcinoma syndrome, NBCCS, Gorlin syndrome, Gorlin's syndrome, basal cell nevus syndrome, basal cell carcinoma, BCC, BCNS, PTCH gene

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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.

Medical Editor

R Stan Taylor, MD, Professor of Dermatology, University of Texas Southwestern Medical School; Director of Skin Surgery and Oncology Clinic, Department of Dermatology, 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 Micrographic Surgery and Cutaneous Oncology, American Medical Association, American Society for Dermatologic Surgery, Christian Medical & Dental Society, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
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.

Managing Editor

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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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