Birthmarks are normally of a concern for the parents.. let us try to understand their significance..

1. BIRTHMARKS OF
MEDICAL SIGNIFICANCE
MODERATOR : DR PRASHANT KARIYA

2. BIRTHMARKS CAN BE DIVIDED INTO THREE GROUPS:
1. VASCULAR BIRTHMARKS,
2. PIGMENTED BIRTHMARKS,
3. BIRTHMARKS RESULTING FROM ABNORMAL
DEVELOPMENT

3. SIGNIFICANCE ??

4. • WHAT IS THE MOST COMMON VASCULAR
TUMOUR OF CHILDHOOD

6. CLASSIFICATION
• SITE
– SUPERFICIAL
– DEEP
– MIXED
• OTHER
– LOCALIZED – usually oval or round
– SEGMENTAL – broad anatomic region
– INDETERMINATE

7. RED FLAGS
Associated with the hemangiomas

8. • PHACE
• Posterior fossa
malformation
• Hemangioma
• Arterial abnoralities
• Cardiac
defect/coarctation of
aorta
• Eye abnormalities/
endocrine abnormalities
( structural pituatary
abnormalities, and
endocrinopathies
including
hypopituitarism,
hypothyroidism, growth
hormone dificiency and
diabetes insipidus)
FACIAL HEMANGIOMA

13. Treatment
• Medical-
– Corticosteroids,
– Alpha interferon ,
– Aminocaproic acid,
– Antiplatelet agents – dipyridamole & acetylacitic
acid,
– Vincristine,
– Cyclophosphamide,
– Pentoxifylline,
– Recombinant IFN-α

14. Treatment
• Surgical removal ??
• Tumour embolisation
• Radiation therapy

15. • Treat Patient & not the platelet count.
• Platelet reserved for the active bleeding or in preparation of
surgery
• Why ??
– Infused platelets have short circulatory time
– increase the size of tumour rapidly presumbly due to
increased platelet traping within the lesion.

16. TREATMENT MODALITIES of IH
• STEROIDS :
– ORAL/IV/ LOCAL
– DOSE
– HOW LONG
– TOXICITY
– RESULT
– VACCINATION & PROPHYLAXIS AGAINST PCP ??

17. TREATMENT
• HIGH DOSE STEROIDS 2 TO 5 MG/KG/DAY )
– RESPONSE IS VARIABLE
• 1/3 REGRESSION, 1/3 STABILIZATION OF GROWTH, 1/3 MINIMAL
TO NOS RESPNSE
• ( DIPTHERIA & TETANUS ANTIBODY TITRES ARE LOW, SO
ADDITIONAL IMMUNIZATION IS PROVIDED IF THE TITERS ARE NOT
PROTECTIVE )
• ( PROPHYLAXIS WITH SEPTRAN FOR PROTECTION AGAINST PCP )
• INTRALESIONAL TRIAMCINOLONE SHOULD NOT EXCEED 3 TO 5
MG/KG PER TREATMENT
• COMPLICATION DUE TO INTRALESIONAL STEROIDS :
– CENTRAL RETINAL ARTERY OCCLUSION, SKIN ATROPHY & NECROSIS,
CALCIFICATION & DOSE DEPENDANT ADRENAL SUPPRESSION.

18. • INTERFERON
– SC 3 MILLION UNIT/ M2
/DAY
– ( S/E : DYSPLASTIC DIPLEGIA, TRANSIENT
NEUTROPENIA & LIVER ENZYME ABNORMALITIES
• VINCRISTINE
– RESISTANT TO CORTICOSTEROIDS OR INTOLERANT
TO CORTICOSTEROIDS
– SINGLE WEEKL DOSE OF 1 TO 1.5 MG/ M2
– S/E : NEUROMYOPATHY PRESENTING AS A FOOT
DROP
– PLACEMENT OF CENTRAL LINE & ITS RISKS

19. PROPRANOLOL
• Start with 0.25 mg/kg bd
• MONITOR HR, PR, RBS 4 HOURLY
• Increase the dose 0.5mg/kg/day till 1-
3mg/kg/day in two or three divided doses
• Given for 4 months

20. • PDL ( PULSED DYE LASER )
• SURGICAL EXCISION

21. SUMMARY of Treatment of IH
• Medical :
– Steroid
– Propranolol
– Vincristine
– interferon
• Surgical :
– Surgical Excision
– PDL (Pulsed Dye Laser )

22. RICH VS NICH
• RICH : Rapidly Involuting Congenital
Hemangioma
• NICH : Noninvoluting Congenital Hemangioma

23. VASCULAR MALFORMATIONS
Characteristic Infantile
Hemangioma
Vascular
Malformation
Age of occurrence &
Course
Infancy & Childhood Persistent if
untreated
Sex ratio ( F:M) 3-9:1 1:1
Natural History Rapid Growth
followed by
spontaneous
regression
Proportional
Growth

24. • WHAT IS THE MOST COMMON VASCULAR
BIRTHMARK ??

28. Salmon patch
• Treatment:
– Pulsed dye laser ( PDL )
– Percutaneous Sclerotherapy
– Excisional Therapy

29. • WHAT IS THE MOST COMMON PIGMENTARY
BIRTHMARK ??

31. Cafe-au-lait spots
• presence of 5 or more >5 mm in diameter
in prepubertal patients
• or
• 6 or more >15 mm in diameter in
postpubertal patients.
• Multiple Cafe-au-lait macules commonly
produce a freckled appearance of non–sun-
exposed areas such as the axillae (Crowe
sign), the inguinal and inframammary
regions, and under the chin.

34. • 1. Cafe-au-lait spots
• 2. Lisch Nodules ( Slit lamp Examination)
• 3. Axillary and inguinal freckling
• 4. Cutaneous Neurofibramatosis
• 5. Facial Angiofibromas
• 6. Multiple Ungual Fibromas
• 7. Shagreen Patch
• 8. Adenoma Sebaceum
• 9. Hyper / Hypo melanotic macules
• 10. "Confetti" Skin Lesions ( Brightly colored lesions)
• 11. Randomly distributed enamil pits in deciduous or permanent teeth
• 12. Gingival fibromas
• 13. Ash - Leaf Spots
• 14. Facial angioma or portwine stain
• 15. Hemangiomas over the spine
• 16. Dermal sinus
• 17. Hairy tuft over sacrum
• 18. Sacral dimples and pits

36. Any 2 of the following 7 features for NF
(1) Six or more Cafe-au-lait macules
over 5 mm in greatest diameter in prepubertal and
over 15 mm in greatest diameter in postpubertal
(2) Axillary or inguinal freckling
(3) Two or more iris Lisch nodules
(4) Two or more neurofibromas or 1 plexiform neurofibroma.
(5) A distinctive osseous lesion such as sphenoid dysplasia
(which may cause pulsating exophthalmos) or cortical
thinning of long bones (e.g., of the tibia) with or without
pseudoarthrosis.
(6) Optic gliomas
(7) A first-degree relative with NF-1 whose diagnosis was based
on the aforementioned criteria.

37. • 1 year old child
• Infantile spasms
• Hypsarrhythmia on EEG

41. • A combination of symptoms may
include seizures, developmental delay, behavioral
problems, skin abnormalities, lung and kidney
disease.
• The name, composed of the Latin tuber (swelling)
and the Greek skleros (hard), refers to
the pathological finding of thick, firm and
pale gyri, called "tubers," in the brains of patients

44. Tuberous – major features
• T - CORTICAL TUBER
• U – Ungal/ periungal fibroma
• B – Big Patch - Shagrean Patch
• E – E(A)ngiofiroma face or forehead plaque
• R – Rhabdomyoma heart/Renal angiomyolipoma
• O - Occular - multiple retinal hamaratomas
• U – Underpigmented ( Hypopigmented ) Macules
(>3) ash leaf macules
• S – Subependymal nodule
-- Subependymal Giant cell astrocytoma

45. Minor features
 Cerebral white matter migration lines
Multiple dental pits
Gingival fibromas
Bone cysts
Retinal achromatic patch
Confetti skin lesions
Nonrenal hamartomas
Multiple renal cysts
Hamartomatous rectal polyps

46. Hypomelanosis of ito –
better term is Blaschkoid hypomelanosis

47. Systematic association with HI Organ system
Central Nervous System Neurodevelopmental delay
Seizures
Microcephaly
Hydrocephalus
Hypotonia
Musculoskeletal Syndactly, Polydactly, clinodactly
Short stature
Scoliosis
Coarse faces
Opthalmologic Congenital Catract
Cardiac VSD, PDA, TOF
Dental Second molar agenesis, enamel defects
Other Choanal atresis
Impaired hearing
Inguinal hernia

49. LWNH ( linear and whorled nevoid
hypermelanosis )
• Similar to HI but with hyperpigmented streaks
instead of hypopigmentation

50. Hypomelanosis of ito
• The skin lesions of hypomelanosis of Ito are generally
present at birth but may be acquired in the first 2 years
of life. The lesions are similar to a negative image of
those present in incontinentia pigmenti, consisting of
bizarre, patterned, hypopigmented macules arranged
over the body surface in sharply demarcated whorls,
streaks, and patches that follow the lines of Blaschko
• The palms, soles, and mucous membranes are spared.
The hypopigmentation remains unchanged throughout
childhood but fades during adulthood

51. Hypomelanosis of ito
• The most commonly associated abnormalities
involve the nervous system, including mental
retardation (70%), seizures (40%), microcephaly
(25%), and muscular hypotonia (15%). The
musculoskeletal system is the second most
frequently involved system, affected by scoliosis
and thoracic and limb deformities. Minor
ophthalmologic defects (strabismus, nystagmus)
are present in 25% of patients, and 10% have
cardiac defects. These frequencies are likely to be
overestimated because patients with isolated
skin disease often do not seek further evaluation

54. • This disease has 4 phases, not all of which may occur in a given
patient. The 1st phase is evident at birth or in the 1st few weeks of
life and consists of erythematous linear streaks and plaques of
vesicles (Fig. 589-10) that are most pronounced on the limbs and
circumferentially on the trunk. The lesions may be confused with
those of herpes simplex, bullous impetigo, or mastocytosis, but the
linear configuration is unique. Histopathologically, epidermal edema
and eosinophil-filled intraepidermal vesicles are present. Eosinophils
also infiltrate the adjacent epidermis and dermis. Blood eosinophilia
as high as 65% of the white blood cell count is common. The 1st
stage generally resolves by 4 mo of age, but mild, short-lived
recurrences of blisters may develop during febrile illnesses. In the
2nd phase, as blisters on the distal limbs resolve, they become dry
and hyperkeratotic, forming verrucous plaques. The verrucous
plaques rarely affect the trunk or face and generally involute within
6 mo. Epidermal hyperplasia, hyperkeratosis, and papillomatosis are
characteristic.

55. • The 3rd or pigmentary stage is the hallmark of incontinentia pigmenti. It
generally develops over weeks to months and may overlap the earlier
phases, be evident at birth, or, more commonly, begin to appear in the 1st
few weeks of life. Hyperpigmentation is more often apparent on the trunk
than the limbs and is distributed in macular whorls, reticulated patches,
flecks, and linear streaks that follow Blaschko lines. The axillae and groin
are invariably affected. The sites of involvement are not necessarily those
of the preceding vesicular and warty lesions. The pigmented lesions, once
present, persist throughout childhood. They generally begin to fade by
early adolescence and often disappear by age 16 yr. Occasionally, the
pigmentation remains permanently, particularly in the groin. The lesion,
histopathologically, shows vacuolar degeneration of the epidermal basal
cells and melanin in melanophages of the upper dermis as a result of
incontinence of pigment. In the 4th stage, hairless, anhidrotic,
hypopigmented patches or streaks occur as a late manifestation of
incontinentia pigmenti; they may develop, however, before the
hyperpigmentation of stage 3 has resolved. The lesions develop mainly on
the flexor aspect of the lower legs and less often on the arms and trunk.