Intraoperative Dermoscopy for Identification of Early Basal Cell Carcinomas in Basal Cell Nevus Syndrome
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1 Intraoperative Dermoscopy for Identification of Early Basal Cell Carcinomas in Basal Cell Nevus Syndrome
2 Disclosures I have no industry related, financial, or other disclosures
3 Goals Discuss the clinical characteristics of Nevoid Basal Cell Carcinoma Syndrome Identify the dermascopic features of basal cells found in syndromic patients Discuss a highly effective and well tolerated treatment modality The CO2 Laser
4 Gorlin s Syndrome Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Rare autosomal dominant mutation of PTCH gene on C-some 9q Prevalence is approximately 1/100,000 Main Cutaneous Characteristics Multiple Basal Cell Carcinomas (BCCs) Palmar and plantar pits
5 Diagnostic Criteria (2 Major, 1 Minor) Major Criteria Cutaneous Over 5 BCCs in a lifetime or one before age 30 Palmar and plantar pits Radiographic Lamellar calcification of the falx cerebri Jaw keratocysts or polyostotic bone cyst Historical First degree relative with NBCCS Controversial Medulloblastoma
6
7
8 Diagnostic Criteria Minor Criteria Macrocephaly Cleft lip and/or palate Vertebral and/or rib abnormalities Polydactyly Ovarian and/or cardiac fibromas Ocular abnormalities
9 Variable Expressivity 105 people aged 4 months to 87 years BCC in 80 % Whites and 38% African Americans Palmar pits in 80% Jaw cysts in 74% Facial dysmorphism in 55% Radiographic changes in up to 65% Falx cerebri calcification Bifid ribs Hemi- or fused vertebrae Flame shaped lucencies of the phalanges, metacarpal, and carpal bones
10 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% BCC Palmar Pits Jaw Cysts Facial Dysmorphism
11 Clinical Challenges for Dermatologists Basal Cell Carcinomas (BCCs) Multiple Early Can be difficult to identify Treatment Safe Effective Well tolerated Efficient Cosmetically acceptable
12 Dermatoscopic findings in BCC Gross Clinical BCC Types Nevoid Pigmented Additional subtypes Acrochordon-like Hemangioma-like Featureless (very small BCCs) Typical BCC (more common with increasing age)
13 Nevoid BCC Always present Pigment without a defined network May be present Brown-grey dots and globules Telangiectasia (usually lesions over 3mm) Leaf-like areas (larger lesions) Smooth and pearly surface
14
15 Featureless BCCs Very small Round Skin colored papules May be polypoid
16 1
17
18 Case Presentation 1-year-old boy Father with history of NBCCS Findings Macrocephaly with frontal bossing Multiple fused vertebrae By age 3 Palmar pit on the left palm Several skin-colored papules with brown globules noted via dermoscopy on his occipital scalp and left eyelid Over the next several years, he developed over 100 BCCs
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20 Treatment Treatment goals for our patient Safe Effective Well tolerated Efficient Cosmetically acceptable
21 Treatment Options for BCC in Gorlin s Syndrome Surgical CO2 Laser Cryosurgery Excision Mohs Topical Imiquimod 5-FU PDT Targeted Vismodegib
22 CO2 laser Study by Nouri, et al. Patient with phototype IV and BCNS 100 BCCs on a patient s trunk, 20 on the neck, and 2 on the face (all 1-4mm in size) identified Treated with CO2 laser Endpoint = skin yellowing 500 mj, 5 W, 3 mm spot size, three to four passes 1 month later 6 random sites chosen for post-op Mohs sections No remaining malignancy identified
23 CO2 Laser Advantages Precision treatment and decreased postop pain Low recurrence (<3% of lesions smaller than 10mm) Rapid tx of many lesions with short healing time (about 2 wks) Better cosmesis (minimal hyperpigmentation and scarring)
24 CO2 Laser When is it not appropriate BCCs larger than 10mm Ulcerative, ill-defined, or very thick BCCs
25 Intraoperative Dermoscopy Followed by CO2 Laser Ablation Phoenix Children s Hospital Harper Price, MD and Ronald Hanson, MD et al. Patient is seen in clinic for skin check BCCs identified by dermoscopy without biopsy Exceptions Diagnostic uncertainty Larger than a few millimeters Patient is scheduled for CO2 laser surgery
26
27 Intraoperative Patient arrives at facility and undergoes induction with general anesthesia Dermoscopy again used intraoperatively to identify BCCs
28
29
30 Treatment CO2 laser 10,600nm, 3-5 W in a continuous fashion Each lesion is treated with one to four focal passes Destruction noted by the endpoint of dermal tightening and slight crust formation
31
32 Post-treatment Usually complete recovery is in 1-2 weeks Slight hypopigmentation with little if any scarring Recurrence does occur occasionally
33
34 Patient Satisfaction Cosmetic results preferred over punch excision Appreciate the ability to treat multiple sites in a single session Report minimal discomfort
35 Conclusions Basal Cell Nevus Syndrome is a disease with both diagnostic and therapeutic challenges Cutaneous Clues Early BCCs Palmar pits Facial dysmorphism CO2 laser Effective Efficient Safe Well tolerated Cosmetically acceptable
36 References Feito-Rodriguez, M., et al "Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin- Goltz syndrome." Journal of the American Academy of Dermatology. 60. (2009): Print. Jarrett, R., et al "The Dermoscopy of Gorlin Syndrome: Pursuit of the Pits Revisited." Archives of Dermatology (2010): 582. Print. Kimonis VE., et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics Mar, 69 (3): Kiwilsza, M., et al. "Gorlin-Goltz syndrome a medical condition requiring a multidisciplinary approach." Med Sci Monit (2012): Print. Kolm, I., et al "Dermoscopy in Gorlin-Goltz Syndrome." Dermatologic Surgery. 32. (2006): Print. Lam, C., et al. "PTCH-ing It Together: A Basal Cell Nevus Syndrome Review." Dermatologic Surgery. 39. (2013): Print. Lien, M., et al. "Nonsurgical Treatment Options for Basal Cell Carcinoma." Journal of Skin Cancer. (2011): 1-5. Print. Nouri, K., et al "Ultrapulse CO2 Used for the Successful Treatment of Basal Cell Carcinomas Found in Patients with Basal Cell Nevus Syndrome." Dermatologic Surgery. 28. (2002): Print. Tang, J., et al. "Inhibiting the Hedgehog Pathway in Patients with Basal-Cell Nevus Syndrome." New England Journal of Medicine (2012): Print. Tiberio, R., et al. "Pigmented basal cell carcinomas in Gorlin syndrome: two cases with different dermatoscopic patterns." Clinical and Experimental Dermatology. 36. (2011): Print. Wolfe, C., et al. "A possible chemopreventive role for photodynamic therapy in Gorlin syndrome: a report of basal cell carcinoma reduction and review of literature." Australasian Journal of Dermatology. 54. (2013): Print. Wolfe, C., et al "Basal Cell Carcinoma Rebound After Cessation of Vismodegib." Dermatologic Surgery. 38. (2012): Print.
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