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Checklists for Pigmented Lesions and Hamartomas

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Checklists for Pigmented Lesions and Hamartomas 4/2/2019 Congenital Melanocytic Nevi, Cafe au lait Macules and Everything in Between Barrett Zlotoff, MD Associate Professor University of Virginia 1 Disclosure of Relationships with Industry Barrett Zlotoff, MD Disclosures I have no relevant relationships with industry 2 1 4/2/2019 Objectives Patterned Pigmentations/Somatic Mosaicisms- Checklist for when to evaluate for associated systemic findings and what to evaluate for – Congenital Melanocytic Nevi – Epidermal and Sebaceous Nevi – Becker’s Nevi – Segmental Pigmentation Disorder – Linear and Whorled Nevoid Hyper/Hypo-melanosis – Broad blaschko-linear patterned pigmentation as a marker for McCune Albright Syndrome – Pigmentation of the genitals – Dermal Melanocytosis and when to worry 3 Campbell, Ian M., et al. "Somatic mosaicism: implications for disease and transmission genetics." Trends in Genetics 31.7 (2015): 382-392. Lim, Young H., Zoe Moscato, and Keith A. Choate. "Mosaicism in cutaneous disorders." Annual review of genetics 51 (2017): 123-141. 4 2 4/2/2019 LCMN is a mosaic mutation of NRAS 5 Initial Visit Checklist • Does this child have neurocutaneous melanosis? • Is there a melanoma? • What are these weird lumps? 6 3 4/2/2019 Neurocutaneous melanosis? • 50% who develop symptoms do so prior to 1 year – most by 2 years of age – another small peak at time of puberty – Seizures, hydrocephalus, cranial nerve deficits, mass effects • Number of satellites most predictive – >20 satellites 5 fold increase in risk of NCM – 3 or more small or medium congenital nevi with no “mother ship” • Size – > 20cm increases risk – Infant→ about 6 cm on head and 9 cm on body • Location of LCMN – Posterior midline 7 Large Multiple small/medium mothership congenital nevus with phenotype multiple satellites 8 4 4/2/2019 Imaging for NCM • Image if: – LCMN with (10 or more?) satellites – 3 or more small or medium congenital nevi – LCMN with posterior midline (+ spine) • MRI of the brain – Ideally before 6 months of age (3-6 months old) – Try feed and swaddle or sedate to avoid general anesthesia – Non contrast, heavily T1 and T2, volumetric sequences – Spine if possible, particularly if lumbosacral involvement • If positive – Close follow up with Pediatric Neurology – Increases risk for melanoma • Follow up Imaging – only if develop symptoms 9 10 5 4/2/2019 11 Is there a melanoma? • Risk is around 5% lifetime for LCMN – Half occur before 5 years old and almost all before puberty – Larger size→ higher risk (75% assoc w > 40 cm) – Truncal location and multiple satellites→ increase risk – Risk much higher for melanomas including cutaneous and extra-cutaneous if NCM • Cutaneous MM present as deep, fast growing or ulcerated nodules in the mothership – Palpate – Pictures • CNS melanoma actually may be more common – Especially if there is NCM with a LCMN 12 6 4/2/2019 What are these weird lumps? • Proliferative nodules – Don’t increase risk of melanoma – Ulcerate less often and less extensively than melanoma – Atypical histologic feature common on biopsy • Cytologic atypia, architectural disorder, pagetoid spread, high mitotic index • IH, FISH seem to have limited value • Some evidence for reduced methylation in melanomas – Get expert and second opinions 13 First Follow up Checklist • Will it fade? • Should we go straight to the surgeon? • Support groups 14 7 4/2/2019 Will it fade? 15 Strauss, Roland M., and Julia A. Newton Bishop. "Spontaneous involution of congenital melanocytic nevi of the scalp." Journal of the American Academy of Dermatology 58.3 (2008): 508-511. 16 8 4/2/2019 Tønseth, Kim A., et al. "Extraordinary large giant Should we go to the surgeon? congenital melanocytic nevus treated with Integra dermal regeneration • Get to know your family template." Plastic and Reconstructive Surgery • Join the support group before discuss Global Open 3.7 (2015). • Complex discussion- experienced surgeon – Has not shown to decrease melanoma risk – Early surgery carries increased anesthesia risk and may not be advantageous – Surgical intervention adverse effects? • Darkening, peripheral lesions, new lesions – Scars vs nevi- function and form – Wait 1 year with photos to assess lightening Kinsler, Veronica, and Neil Bulstrode. "The role of surgery in the management of congenital melanocytic naevi in children: a perspective from Great Ormond Street Hospital." Journal of Plastic, Reconstructive & Aesthetic Surgery 62.5 (2009) 17 Support Groups- parents immediately, child before school age Nevus Outreach- www.nevus.org Nevus Network- www.nevusnetwork.org 18 9 4/2/2019 Follow up Checklist LCMN • Serial exam with palpation every 3 months first 2 years then q6 months until age 5 then annually – Total body photography to assess for lightening and new lesions • Counsel regarding xerotic skin, pruritus, and hypohidrosis – Ondansetron • Feng, Jing, et al. "Life-threatening blood loss from scratching provoked by pruritus in the bulky perineal nevocytoma variant of giant congenital melanocytic nevus in a child." Journal of the American Academy of Dermatology 53.2 (2005): S139-S142. • Counsel not to limit activity due to fear • Low threshold for neurodevelopmental assessment • The hope: – RAF and MEK inhibitors for tx of LCMN and NCM 19 Small and Medium CMN 20 10 4/2/2019 MM in small/intermediate CMN • Most were superficial • Age range 18 to 79 years. Illig L, et al. Congenital nevi less than or equal to 10 cm as precursors to melanoma. 52 cases a review, and a new conception. Arch Dermatol. 1985;121:1274-81. 21 Checklist Small and Medium CMN • Risk of Melanoma low – <1% over a lifetime – Occur after puberty • Periodic evaluation after puberty with photos • Discussion of removal – Functional concerns – Psychosocial/Cosmetic concerns – Usually wait till after 3 yo 22 11 4/2/2019 The exception to the rule • 8 year-old Report of MM arising in CMN • Change over months • No regular medical monitoring done prior to visit for nodule • PET scan and sentinel node neg • NED 12 months later Lalor L et al. Busam K, Shah K. Prepubertal Melanoma Arising within a Medium-Sized Congenital Melanocytic Nevus. Pediatr Dermatol. 2016;33(6):e372-e374. 23 Favorite References • Price, Harper N. "Congenital melanocytic nevi: update in genetics and management." Current opinion in pediatrics 28.4 (2016) • Kinsler, V. A., et al. "Melanoma in congenital melanocytic naevi." British Journal of Dermatology (2017). • Kinsler, V. A., et al. "The role of surgery in the management of congenital melanocytic naevi in children: a perspective from Great Ormond Street Hospital." Journal of Plastic, Reconstructive & Aesthetic Surgery 62.5 (2009) • Kinsler, V.A., et al. “Complications of congenital naevi in children: analysis of 16 years’ experience and clinical practice.” British Journal of Dermatology (2008) 24 12 4/2/2019 Nevus Sebaceous is mosaic HRAS or KRAS Mutation 25 Epidermal (Keratinocyte) Nevus is mosaic of HRAS, KRAS,NRAS, PIK3CA, FGFR3, FGFR2, Keratin 1/10 mutations 26 13 4/2/2019 Larsabal, M., et al. "Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)." British Journal of Dermatology (2018). Tsubota, Akiko, et al. "Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis." Journal of Investigative Dermatology 127.6 (2007): 1371- 1374. 27 Checklist for EN and NS • Detailed Physical Exam to determine – Extent – Multifocality (mouth, genitals, scalp) – musculoskeletal abnormalities • Detailed History to ask about – Developmental milestones – Seizures – Issues with vision 28 14 4/2/2019 29 Localized NS Checklist • Tumor growth – Benign: • trichoblastomas, syringocystadenoma papilliferum – Malignant: • Basal cell cancer most common • < 1% in 651 excised NS in children (Rosen et al 2009) • Excise? When? – Psychosocial, risk of general anesthesia, family ethic/culture – There is no rush→ after 3 yo due to anesthesia issues – Check in around puberty when thickening 30 15 4/2/2019 Localized EN Checklist • Less risk of tumors • No medical reason to excise, based on disfigurement • Rule out associated overgrowth syndromes like CLOVES, SOLAMEN, Proteus 31 32 16 4/2/2019 Extensive/Multifocal NS Checklist • Neurology Consult – 7% in recent cohort of 196 patients w neurologic issues – More common with centrofacial involvement – Intellectual disability and seizures most common – Screening imaging not helpful unless symptoms • 75% will have normal imaging • Ophthalmology Consult – 2% in recent cohort of 196 patients – More common with neurologic abnormalities – Choristomas, colobomas, strabismus most common • Skeletal exam and look for scoliosis – Scoliosis, gait, limb length, shoe wear patterns – Check calcium and phosphate hypophosphatemic vitamin D-resistant rickets • Bone pain, impaired mobility, bony deformities ( birth to puberty) 33 34 17 4/2/2019 Extensive/Multifocal EN Checklist • Neurology Consult • Ophthalmology Consult • Skeletal Exam • Consider hypophosphatemic vitamin D-resistant rickets – Bone scans, calcium, phosphorous • Is it epidermolytic keratinocytic nevus? 35 Ross, Rustin, et al. Journal of the American Academy of Dermatology 59.1 (2008) 36 18 4/2/2019 Epidermolytic keratinocyte EN • Consider biopsy at some point • Important for genetic counseling – Keratin 1, 10 mutations – Risk of offspring with epidermolytic ichthyosis – Especially if nevus is over gonads or extensive • Gonadal mosaicism highly variable 37 Groesser, Leopold, et al. Journal of Investigative Dermatology 133.8 (2013): 1998-2003. 38 19 4/2/2019 Phakomatosis
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