R.I.C.H. Grand Rounds October 2005 Speaker: Jay C. Bradley, MD Discussant: Michael J. Shami, MD Rapidly Involuting Congenital Hemangioma

Report of Case: Premature female referred for choroidal hemangioma OS discovered at ROP screening exam 1 pound 10 ounces, 27 weeks gestational age at first exam MRI of brain/orbits/liver c/s contrast NL

Choroidal hemangioma OS

Hemangiomas also present on right upper lid and right hip

Hemangioma resolution at 2 yr F/U

Types of Congenital Hemangiomas Typical infantile hemangioma NICH (Non-involuting congenital hemangioma) RICH (Rapidly involuting congenital hemangioma)

Typical Infantile Hemangiomas 1-2 % of neonates Up to 12 % of Caucasian infants by 1 year Female > Males (3-5:1) Up to 23 % of premature infants Manifest postnatally (median of 2 weeks)

Typical Infantile Hemangiomas Grows rapidly during 1 st year of life Involutes slowly from 1 – 7 years Completely regresses by 8 –12 years Glucose transporter-1 protein present

N.I.C.H. Present before birth Does not involute Grows in proportion with patient Similar to RICH in appearance, location, size, and sex distribution

R.I.C.H Fully grown at birth Male = Female Diagnosis possible as early as 12 weeks gestation by U/S Rapid 2 nd trimester growth with 3 rd trimester plateau Involuted rapidly by 12 – 18 months No glucose transporter-1 protein

R.I.C.H. Most common locations –Head & neck –Extremities, close to joint (ie elbow, shoulder, knee or hip) –Rare on trunk / liver / sacrococcygeal area –No previously reported choroidal involvement Inhomogeneous areas and larger flow voids on MRI Aneurysms on angiography

Typical IH NICH RICH

Possible Theoretical Model Hemangioma VEGF bFGF + + Interferon (trophoblastic origin) X greater in 1 st than 3 rd trimester 2.RICH/NICH from localized area of low [IFN] 3.Typical IH from sudden decrease in [IFN] without placental circulation

Treatment Observation, observation, observation!!! (>90 % require no treatment, without relation to size) Unless… –Equivocal diagnosis (rule out congenital fibrosarcoma and other malignancy) –Ulceration, hemorrhage, visual obstruction –AV shunting with CHF –Kasabach-Merritt phenomenon –Residual excess skin or telangiectasias after rapid involution Then excision +/- steroids +/- interferon

Skin / Lid hemangiomas Usually capillary type Induces astigmatism May cause amblyopia May require intervention Sterker I, Grafe G. Strabismus Jun;12(2):

Choroidal hemangiomas Usually cavernous type Isolated –Reddish orange –Well-circumscribed –Discovered during routine exam or secondary to induced hyperopia from tumor or serous detachment –Not usually associated with Sturge-Weber syndrome

Diffuse –“Tomato catsup” fundus –May be dicovered during Dx/Tx of associated developmental glaucoma or amblyopia in children –Associated with Sturge-Weber syndrome Encephalotrigeminal angiomatosis Ipsilateral facial nevus flammeus (port-wine stain) V1/2 (87%) Sporadic inheritance Seizures (72-93%)/ glaucoma (30-71%) / choroidal hemangioma (40%) / MR (50-75%)

Choroidal hemangioma Overlying cytic change alone to frank neurosensory detachment secondary to choroidal exudation and RPE dysfunction Hard exudates are not commonly seen Treatment –No symptoms  observation –Serous detachment affecting fovea  Laser photocoagulation, cryopexy, external beam and plaque radiation, or PDT

Any Questions? BEAT OU !!