eMedicine Specialties > Pediatrics: General Medicine > Dermatology

Nevoid Basal Cell Carcinoma Syndrome: Differential Diagnoses & Workup

Author: Benjamin Barankin, MD, FRCPC, Dermatologist, Private Practice, Toronto
Coauthor(s): Gary Goldenberg, MD, Assistant Professor of Dermatology, Director Dermatopathology Laboratory, University of Maryland School of Medicine; Gordon Searles, OD, MD, MSc, Clinical Assistant Professor, Department of Medicine, Division of Dermatology and Cutaneous Sciences, University of Alberta Hospital, Canada
Contributor Information and Disclosures

Updated: Mar 13, 2009

Differential Diagnoses

Other Problems to Be Considered

Bazex syndrome
Linear unilateral basal cell nevus with comedones
Rasmussen syndrome
Rombo syndrome

Workup

Laboratory Studies

  • No specific laboratory blood tests are required in the workup of nevoid basal cell carcinoma syndrome (NBCCS).
  • Genetic testing is not widely available at this time. However, in research settings, genotyping is informative in identifying additional family members once the proband's genotype has been determined. Molecular genetic studies can be used to identify the mutation prenatally, postnatally, and preimplantationally. Definitive presymptomatic diagnosis can be achieved by molecular genetic linkage studies currently taking place at the Yale University School of Medicine.

Imaging Studies

  • Radiography
    • Skull, neck, and chest radiography are useful in diagnosing the condition at birth in individuals at risk. Panoramic radiography of the jaw is used to diagnose jaw cysts. Hand and spinal column radiography may also be helpful.
    • Radiologic signs include calcification of the falx cerebri or tentorium cerebelli, bridged sella turcica, large paranasal sinuses, increased mandibular length, rib anomalies (eg, bifid, fused, missing, splayed), vertebral anomalies (eg, kyphoscoliosis, abnormal segmentation), short fourth metacarpal, sclerotic bone lesions (rare), and flame-shaped lucencies of the bones of the hand.
    • Because skeletal anomalies are a common and early presentation of the syndrome, occurrence of multiple lesions should raise suspicion of this syndrome because children may not yet manifest the other anomalies of nevoid basal cell carcinoma syndrome.
  • CT scanning and MRI
    • Although radiography is often useful, CT scanning can be performed for earlier identification of the falx and tentorial calcification, cerebral atrophy, and dysgenesis or agenesis of the corpus callosum.
    • However, because of the radiation involved in CT scanning, annual MRI of the cerebrum is recommended in detection of medulloblastomas in children aged 8 years and younger.
  • Echocardiography: Although rare, cardiac fibromas can be excluded in those at risk for nevoid basal cell carcinoma syndrome by obtaining periodic chest radiographs and echocardiograms starting at birth and subsequently obtained on the basis of clinical suspicion.
  • Ultrasonography: Ultrasonography of the pelvic area can aid in the diagnosis of ovarian fibromas.

Procedures

  • No procedures are specific to this syndrome.

Histologic Findings

  • Basal cell carcinomas (BCCs) that are part of nevoid basal cell carcinoma syndrome cannot be differentiated from BCCs observed in patients without the syndrome. The solid and superficial types of BCCs are most common in this syndrome, with all other types of BCC observed less frequently.

    Basal cell carcinoma. Mixed nodular and micronodu...

    Basal cell carcinoma. Mixed nodular and micronodular growth pattern (low power).

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    Basal cell carcinoma. Mixed nodular and micronodu...

    Basal cell carcinoma. Mixed nodular and micronodular growth pattern (low power).


    Basal cell carcinoma. Mixed nodular and micronodu...

    Basal cell carcinoma. Mixed nodular and micronodular growth pattern (high power).

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    Basal cell carcinoma. Mixed nodular and micronodu...

    Basal cell carcinoma. Mixed nodular and micronodular growth pattern (high power).

  • Odontogenic keratocysts should be proven by histology. They are lined by thin, corrugated, stratified squamous epithelium with varying degrees of keratinization and surrounded by a thick fibrous capsule.

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

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

  2. Yamamoto K, Yoshihashi H, Furuya N, et al. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature. Congenit Anom (Kyoto). Mar 2009;49(1):8-14. [Medline].

  3. 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].

  4. Hall J, Johnston KA, McPhillips JP, et al. Nevoid basal cell carcinoma syndrome in a black child. J Am Acad Dermatol. Feb 1998;38(2 Pt 2):363-5. [Medline].

  5. Choudry Q, Patel HC, Gurusinghe NT, Evans DG. Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst. Sep 15 2006;[Medline].

  6. Sterry W, Ruzicka T, Herrera E, et al. Imiquimod 5% cream for the treatment of superficial and nodular basal cell carcinoma: randomized studies comparing low-frequency dosing with and without occlusion. Br J Dermatol. Dec 2002;147(6):1227-36. [Medline].

  7. Stockfleth E, Ulrich C, Hauschild A, et al. Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod. Eur J Dermatol. 2002;12(6):569-72. [Medline].

  8. van der Geer S, Ostertag JU, Krekels GA. Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. J Eur Acad Dermatol Venereol. Dec 19 2008;[Medline].

  9. Campbell RM, Digiovanna JJ. Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients. Dermatol Ther. 2006;Sep-Oct;19(5):306-14. [Medline].

  10. Taylor SF, Cook AE, Leatherbarrow B. Review of patients with basal cell nevus syndrome. Ophthal Plast Reconstr Surg. Jul-Aug 2006;22(4):259-65. [Medline].

  11. Bale AE. The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis. Cancer Invest. 1997;15(2):180-6. [Medline].

  12. Caccialanza M, Percivalle S, Piccinno R. Possibility of treating basal cell carcinomas of nevoid basal cell carcinoma syndrome with superficial x-ray therapy. Dermatology. 2004;208(1):60-3. [Medline].

  13. Chiritescu E, Maloney ME. Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. J Am Acad Dermatol. May 2001;44(5):789-94. [Medline].

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

  15. 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].

  16. Korczak JF, Brahim JS, DiGiovanna JJ, et al. Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction. Am J Med Genet. Mar 31 1997;69(3):309-14. [Medline].

  17. Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg. Mar 2004;33(2):117-24. [Medline].

  18. Pastorino L, Cusano R, Baldo C, et al. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. May 2005;31(3):351-4. [Medline].

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Further Reading

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Keywords

nevoid basal cell carcinoma syndrome, NBCCS, Gorlin syndrome, basal cell nevus syndrome, BCNS, Gorlin-Goltz syndrome, multiple basal cell nevi, PTCH gene, basal cell carcinoma, BCC, medulloblastomas, ovarian fibromas, fibrosarcomas, rhabdomyosarcomas, meningiomas, cardiac fibromas, jaw cysts, palmar pits, macrocephaly, jaw swelling, keratocysts, cleft palate, spina bifida occulta, pectus deformity, spinal abnormalities, hypogonadism, kidney anomalies, acromegaly, malocclusion

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Contributor Information and Disclosures

Author

Benjamin Barankin, MD, FRCPC, Dermatologist, Private Practice, Toronto
Benjamin Barankin, MD, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, Canadian Dermatology Association, Canadian Medical Association, International Society of Dermatology, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, and Women's Dermatologic Society
Disclosure: Nothing to disclose.

Coauthor(s)

Gary Goldenberg, MD, Assistant Professor of Dermatology, Director Dermatopathology Laboratory, University of Maryland School of Medicine
Gary Goldenberg, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology
Disclosure: Graceway Pharmaceuticals LLC Consulting fee Consulting; Abbott Consulting fee Consulting; GSK Consulting fee Consulting

Gordon Searles, OD, MD, MSc, Clinical Assistant Professor, Department of Medicine, Division of Dermatology and Cutaneous Sciences, University of Alberta Hospital, Canada
Gordon Searles, OD, MD, MSc is a member of the following medical societies: Alberta Medical Association, American College of Physicians-American Society of Internal Medicine, Canadian Medical Association, College of Physicians and Surgeons of Alberta, Pacific Dermatologic Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

Kevin P Connelly, DO, Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University; Medical Director, Paws for Health Pet Visitation Program of the Richmond SPCA; Pediatric Emergency Physician, Emergency Consultants Inc, Chippenham Medical Center
Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
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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