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
Objective Recognize key features of common lumps and bumps Learn to differentiate similar lesions Recognize worry signs of lumps and bumps
Brown Coloured Lesions
Yellow Lesions
Red Lesions
Flesh-Coloured Lesions
Blue-Purple Coloured Lesions
Brown Coloured Lesions
Congenital Nevi Melanocyte proliferation Common (small) Small: <1.5 cm Medium: 1.5-19.9cm Large: =>20cm Compared to acquired nevi: Larger, more irregular shape, border, colour Baseline photos help to monitor for change
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)
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
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
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
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
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)
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
Epidermal Nevus Natural History Gets more pronounced over first few years After preschool age usually stabilizes Persists permanently Does not typically progress to malignancy
Epidermal Nevus Worry signs Usually isolated, asymptomatic lesion Rarely associated with CNS findings epidermal nevus syndrome
Epidermal Nevus Management Diagnosis usually clinical Reassure family Cosmetic concerns mainly Treatment options: No treatment Surgical and laser options
Yellow Lesions
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
Juvenile Xanthogranuloma: Natural History Usually regress over several years If large can leave atrophy or telangiectasia No malignant potential
Juvenile Xanthogranuloma: Worry Signs Can rarely have internal associations Liver Eye findings Risk factors: Multiple lesions Age <2
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
Nevus Sebaceous Clinical Manifestations Birthmark of abnormal sebaceus glands Always present at birth Typically on head, scalp and neck
Nevus Sebaceous Clinical Manifestations Yellow-pinkish plaque Barely palpable No hair within plaque Often linear configuration
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
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
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
Red Lesions
Hemangioma of Infancy: Epidemiology Incidence of 4-10% in infants Females>males Risk Factors: Prematurity Low birth weight Multiple gestation
Superficial Hemangioma of Infancy: Clinical Manifestations strawberry birthmark Erythematous papules Deep Subcutaneous nodule Bluish-purple or flesh-coloured Mixed lesions Warmer than surrounding skin
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: 12-24 months Regression: 24 months until 9-10 years of age Residua: lasting skin changes in 50%
Location Hemangioma of Infancy: Worry Signs Obstruction Associations Key cosmetic areas Ulceration Multiple
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
Hemangioma of Infancy: Worry Signs--location Associations Mid-line lesions Lumbosacral Mid-face Large segmental on face: PHACES
Hemangioma of Infancy: Worry Signs Posterior fossae abnormalities Hemangioma Arterial abnormalities Cardiac, coarctation of aorta Eye abnormalities Sternal defects
Hemangioma of Infancy: Worry Signs--location Key cosmetic areas Vermillion border, nasal tip
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
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
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
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
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
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
Blue-Purple Coloured Lesions
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
Vascular Malformation Natural History Present at birth Grow with child Do not regress on own
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
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
Flesh-Coloured Lesions
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
Pilomatricoma Natural History Tend not to resolve on own Typically no progression to malignancy
Pilomatricoma Management Remove or observation Remove for: Confirmation of diagnosis Pain or tenderness Cosmetic appearance
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
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