Intraoperative Dermoscopy for Identification of Early Basal Cell Carcinomas in Basal Cell Nevus Syndrome Disclosures • I have no industry related, financial, or other disclosures 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 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 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 Diagnostic Criteria • Minor Criteria ▫ Macrocephaly ▫ Cleft lip and/or palate ▫ Vertebral and/or rib abnormalities ▫ Polydactyly ▫ Ovarian and/or cardiac fibromas ▫ Ocular abnormalities 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 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% BCC Palmar Pits Jaw Cysts Facial Dysmorphism Clinical Challenges for Dermatologists • Basal Cell Carcinomas (BCCs) ▫ Multiple ▫ Early ▫ Can be difficult to identify • Treatment ▫ Safe ▫ Effective ▫ Well tolerated ▫ Efficient ▫ Cosmetically acceptable 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) 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 Featureless BCCs • Very small • Round • Skin colored papules • May be polypoid 1 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 Treatment • Treatment goals for our patient ▫ Safe ▫ Effective ▫ Well tolerated ▫ Efficient ▫ Cosmetically acceptable Treatment Options for BCC in Gorlin’s Syndrome • Surgical ▫ CO2 Laser ▫ Cryosurgery ▫ Excision ▫ Mohs • Topical ▫ Imiquimod ▫ 5-FU ▫ PDT • Targeted ▫ Vismodegib 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 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) CO2 Laser • When is it not appropriate… ▫ BCCs larger than 10mm ▫ Ulcerative, ill-defined, or very thick BCCs 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 Intraoperative • Patient arrives at facility and undergoes induction with general anesthesia • Dermoscopy again used intraoperatively to identify BCCs 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 Post-treatment • Usually complete recovery is in 1-2 weeks • Slight hypopigmentation with little if any scarring • Recurrence does occur occasionally Patient Satisfaction • Cosmetic results preferred over punch excision • Appreciate the ability to treat multiple sites in a single session • Report minimal discomfort 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 References • Feito-Rodriguez, M., et al "Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin- Goltz syndrome." 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