Congenital and Neonatal Lumps and Bumps. Diagnostico y manejo de las manchas y tumoraciones cutaneas congenitas en el neonato
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1 Congenital and Neonatal Lumps and Bumps Diagnostico y manejo de las manchas y tumoraciones cutaneas congenitas en el neonato Miriam Weinstein MD FRCPC Hospital for Sick Children, Toronto ALAPE Cartagena, Nov 2012
2 Objective Recognize key features of common lumps and bumps Learn to differentiate similar lesions Recognize worry signs of lumps and bumps
3 Brown Coloured Lesions
4 Yellow Lesions
5 Red Lesions
6 Flesh-Coloured Lesions
7 Blue-Purple Coloured Lesions
8 Brown Coloured Lesions
9 Congenital Nevi Melanocyte proliferation Common (small) Small: <1.5 cm Medium: cm Large: =>20cm Compared to acquired nevi: Larger, more irregular shape, border, colour Baseline photos help to monitor for change
10 Congenital Nevi Concerns Transformation to malignancy RARE Risk is around 2% for large Risk for medium and small is very low About same as for acquired nevi Associated neurologic melanocytosis RARE Risk with large CMN over head or spine (still rare)
11 Cosmetic concerns Congenital Nevi Concerns Individual reactions Larger nevi more difficult to remove Staged removal Removal with tissue expansion Some can t be adequately excised Large scars Laser not as good as surgery?risks
12 Mastocytoses: Clinical Manifestations 2 main types in childhood Collections of mast cells in skin Urticaria pigmentosa Solitary mastocytoma UP: small, brown nodules, few-many Mastocytoma: larger, brown nodules, solitary Intermittently become red, swollen, hive-like Very rare: systemic symptoms Flushing, diarrhea
13 Mastocytosis: Natural History Appear early infancy UP: Can get new lesions up to about 2-3 years Mastocytoma: Usually don t develop new lesions over time Both usually resolve school-age to teens May leave small scars
14 Mastocytosis: Management Confirm diagnosis with Darier s Sign Stroke lesion to produce urticaria Systemic work-up rarely needed Discuss situations that can cause urtication Warm bath, exercise, scratching lesion, spontaneous Medications: ASA, ETOH, Dextromethorphan, opiates, some anesthetics Observation of lesions, rarely need Tx
15 Café Au Lait Macules Always FLAT >5 CALMs consider Neurofibromatosis 1 Need 2/7 criteria Family history Lisch nodules (lesions on iris) Ophtho exam Optic glioma Ophtho exam Axillary/inguinal freckling (tiny café au laits) Neurofibromas (2 regular or 1 plexiform) Specific bony changes >5 CALMS (.5cm prepubertal 1.5 cm postpuberty)
16 Epidermal Nevus Clinical Manifestation Often linear Grouped or coalescing papules Flesh to brown colour Present at birth - often not visible until later May look verrucous or like skin tags Usually trunk and limbs Usually unilateral
17 Epidermal Nevus Natural History Gets more pronounced over first few years After preschool age usually stabilizes Persists permanently Does not typically progress to malignancy
18 Epidermal Nevus Worry signs Usually isolated, asymptomatic lesion Rarely associated with CNS findings epidermal nevus syndrome
19 Epidermal Nevus Management Diagnosis usually clinical Reassure family Cosmetic concerns mainly Treatment options: No treatment Surgical and laser options
20 Yellow Lesions
21 Juvenile Xanthogranuloma: Clinical Manifestations Aquired lesion Yellow-red papules with telangiectasia Soft and well-circumscribed Usually solitary, can be multiple Infancy to schoolage Asymptomatic Benign collection of macrophages
22 Juvenile Xanthogranuloma: Natural History Usually regress over several years If large can leave atrophy or telangiectasia No malignant potential
23 Juvenile Xanthogranuloma: Worry Signs Can rarely have internal associations Liver Eye findings Risk factors: Multiple lesions Age <2
24 Juvenile Xanthogranuloma: Management Ensure no liver disease clinically If < age 2 or multiple lesions: Ophthalmology Biopsy to confirm diagnosis if questionable No topical or systemic treatments Can remove or observe
25 Nevus Sebaceous Clinical Manifestations Birthmark of abnormal sebaceus glands Always present at birth Typically on head, scalp and neck
26 Nevus Sebaceous Clinical Manifestations Yellow-pinkish plaque Barely palpable No hair within plaque Often linear configuration
27 Nevus Sebaceous Natural History Present at birth Grows with child proportionately Puberty: can thicken considerably Hormonal stimulation of sebaceous glands Persists permanently May develop nodules If this occurs it is typically in adulthood
28 Nevus Sebaceous Worry Signs Rarely can have systemic association: Large and centrofacilal lesions CNS: developmental delay, seizures Bon abnormalities Eye findings New nodules within lesion can develop Usually in adulthood (if at all) Usually benign growths Rarely (<1%) basal cell carcinoma
29 Nevus Sebaceous Management Observation versus removal Suggest removal if: Desired for cosmetic reasons Development of nodule within (bx or remove) Observation: After puberty suggest yearly screen Any change, nodule should be biopsied
30 Red Lesions
31 Hemangioma of Infancy: Epidemiology Incidence of 4-10% in infants Females>males Risk Factors: Prematurity Low birth weight Multiple gestation
32 Superficial Hemangioma of Infancy: Clinical Manifestations strawberry birthmark Erythematous papules Deep Subcutaneous nodule Bluish-purple or flesh-coloured Mixed lesions Warmer than surrounding skin
33 Hemangioma of Infancy: Natural History Precursor: colour change at site before lesion Proliferative: first few weeks until 3-12 months Rapid growth out of proportion to child s growth Plateau: months Regression: 24 months until 9-10 years of age Residua: lasting skin changes in 50%
34 Location Hemangioma of Infancy: Worry Signs Obstruction Associations Key cosmetic areas Ulceration Multiple
35 Obstruction Hemangioma of Infancy: Worry Signs--location Periorbital may impair vision Obstruction of pupil Pressure on globe-astigmatism Retro-orbital extension Large beard-area distribution may suggest tracheal hemangiomas with airway obstruction
36 Hemangioma of Infancy: Worry Signs--location Associations Mid-line lesions Lumbosacral Mid-face Large segmental on face: PHACES
37 Hemangioma of Infancy: Worry Signs Posterior fossae abnormalities Hemangioma Arterial abnormalities Cardiac, coarctation of aorta Eye abnormalities Sternal defects
38 Hemangioma of Infancy: Worry Signs--location Key cosmetic areas Vermillion border, nasal tip
39 Ulceration Hemangioma of Infancy: Worry Signs Lesions prone to ulceration Large hemangiomas Genital hemangiomas Body folds (e.g., axillae) Very painful Can get infected May leave scar
40 Multiple Hemangioma of Infancy: Worry Signs Many hemangiomas Often tiny Behave like solitary hemangiomas Can be associated with internal hemangiomas Liver ultrasound if: >5 lesions Clinical hepatomegaly Clinical high output cardiac failure
41 Hemangioma of Infancy: Management 90% require no active management Anticipatory guidance If visible prepare parents for reactions May get accused of abuse Constant questions about lesion Concerned about appearance at schoolage 10% require treatment Vision-threatening Large facial Ulcertated Airway involvement Risk of significant negative cosmetic outcome
42 Hemangioma of Infancy: Management Old Treatment (still can use) Oral steroids (2-5mg/kg) for months 1 st line treatment Need careful monitoring and slow wean off medication Hypertension common?other side effects
43 Hemangioma of Infancy: Management New Therapy! Beta-blockers have been shown to reduce hemangiomas Fewer side effects than steroids Hypotension, hypoglycemia, bronchospasm, cold extremities, sleep disruption Off-label Oral Most centers use propranolol Work up to 2mg/kg/day divided TID Baseline ECG, vitals, weight Regular monitoring Our centre uses nadolol Topical Timolol 0.5% bid
44 Port Wine Stain Vascular malformation of capillaries Present at birth Grows with child May lighten slightly in 1 st year then stable May get darker & slightly raised over time
45 Blue-Purple Coloured Lesions
46 Vascular Malformations Clinical Manifestations Soft, irregular nodules from birth Bluish or purple Can be anywhere, any size Can become painful if develop phleboliths Often confused with deep hemangiomas
47 Vascular Malformation Natural History Present at birth Grow with child Do not regress on own
48 Vascular Malformation Worry Signs Increasing pain May have phleboliths Increasing blue/purple discoloration May have bled into lesion If bruits or thrills May suggest AVM Requires further workup
49 Vascular Malformation Management Workup: Most require no workup is not symptomatic Ensure no bruit or thrill Many require no management Management for symptomatic lesions: Surgical removal for small lesions Sclerotherapy for larger lesions ASA for clots in some Managed by vascular malformation team
50 Flesh-Coloured Lesions
51 Pilomatricoma Clinical Manifestations Firm, irregular, lobulated nodule Often bluish-purple or flesh coloured Head and neck common Can be tender Usually solitary Benign growth of hair follicle
52 Pilomatricoma Natural History Tend not to resolve on own Typically no progression to malignancy
53 Pilomatricoma Management Remove or observation Remove for: Confirmation of diagnosis Pain or tenderness Cosmetic appearance
54 Epidermal Cyst Flesh-coloured mobile nodule May have punctum Usually mobile, nontender Can be anywhere May get expressed substance Foul-smelling White, thick Degraded skin cells
55 Epidermal Cyst Rarely cause discomfort May become inflamed Tender Erythematous May get pus Can be confused with a lymph node Can be excised or observed
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