BIRTHMARKS OFMEDICAL SIGNIFICANCE

MODERATOR : DR PRASHANT KARIYA

BIRTHMARKS CAN BE DIVIDED INTO THREE GROUPS:

1. VASCULAR BIRTHMARKS, 2. PIGMENTED BIRTHMARKS, 3. BIRTHMARKS RESULTING FROM ABNORMAL

DEVELOPMENT

SIGNIFICANCE ??

• WHAT IS THE MOST COMMON VASCULAR TUMOUR OF CHILDHOOD

CLASSIFICATION

• SITE– SUPERFICIAL– DEEP – MIXED

• OTHER– LOCALIZED – usually oval or round– SEGMENTAL – broad anatomic region– INDETERMINATE

RED FLAGS Associated with the hemangiomas

• 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

Treatment

• Medical-

– Corticosteroids,

– Alpha interferon ,

– Aminocaproic acid,

– Antiplatelet agents – dipyridamole & acetylacitic acid,

– Vincristine,

– Cyclophosphamide,

– Pentoxifylline,

– Recombinant IFN-α

Treatment

• Surgical removal ??

• Tumour embolisation

• Radiation therapy

• 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.

TREATMENT MODALITIES of IH

• STEROIDS :– ORAL/IV/ LOCAL– DOSE– HOW LONG– TOXICITY– RESULT– VACCINATION & PROPHYLAXIS AGAINST PCP ??

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.

• 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

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

• PDL ( PULSED DYE LASER ) • SURGICAL EXCISION

SUMMARY of Treatment of IH

• Medical : – Steroid– Propranolol– Vincristine– interferon

• Surgical :– Surgical Excision– PDL (Pulsed Dye Laser )

RICH VS NICH

• RICH : Rapidly Involuting Congenital Hemangioma

• NICH : Noninvoluting Congenital Hemangioma

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

• WHAT IS THE MOST COMMON VASCULAR BIRTHMARK ??

Salmon patch

• Treatment:– Pulsed dye laser ( PDL )– Percutaneous Sclerotherapy– Excisional Therapy

• WHAT IS THE MOST COMMON PIGMENTARY BIRTHMARK ??

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.

• 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

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.

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

• 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

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

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

Hypomelanosis of ito – better term is Blaschkoid hypomelanosis

Systematic association with HI Organ system

Central Nervous System Neurodevelopmental delaySeizuresMicrocephalyHydrocephalusHypotonia

Musculoskeletal Syndactly, Polydactly, clinodactlyShort statureScoliosisCoarse faces

Opthalmologic Congenital Catract

Cardiac VSD, PDA, TOF

Dental Second molar agenesis, enamel defects

Other Choanal atresisImpaired hearingInguinal hernia

LWNH ( linear and whorled nevoid hypermelanosis )

• Similar to HI but with hyperpigmented streaks instead of hypopigmentation

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

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

• 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.

• 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.