R.I.C.H.

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

2. 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

3. Choroidal hemangioma OS

4. Hemangiomas also present on right upper lid and right hip

5. Hemangioma resolution at 2 yr F/U

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

7. 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)

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

9. 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

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

11. 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

12. Typical IH NICH RICH

13. VEGF + Hemangioma + bFGF - Interferon (trophoblastic origin) Possible Theoretical Model • 6 X greater in 1st than 3rd trimester • RICH/NICH from localized area of low [IFN] • Typical IH from sudden decrease in [IFN] without placental circulation

14. 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

15. Skin / Lid hemangiomas • Usually capillary type • Induces astigmatism • May cause amblyopia • May require intervention • Sterker I, Grafe G. Strabismus. 2004 Jun;12(2):103-10.

16. 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

17. 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%)

18. 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

19. Any Questions? BEAT OU !!