Phacomatoses

1) Neurofibromatosis (Von Recklinhausen’s)

A) NF type I

- 1 per 4000

chromosome 17q11 (AD)

A) Systemic features

1) neurofibroma

2) neurillemomma (Schwannoma)

3) axillary and inguinal freckling

4) cafe au lait spots

5) sphenoid hypoplasia

6) skeletal deformities

7) seizures

8) hemiparesis

9) MR

10) hemiatrophy

11) hemifacial hypertrophy

12) pheochromocytoma

13) molluscum fibrosa?

B) Ocular features

1) neurofibromas: eyelids, conjunctiva, iris, c.b., and choroid

2) enlarged corneal nerves

3) glaucoma (50% if lid tumor)

4) iris melanocytic hamartoma

4) retinal glial hamartoma

5) optic nerve glial hamartoma

6) optic nerve gliomas, meningioma

7) lid plexiform neurofibromas

8) ectropion uvea

9) conj. melanomas

10) uveal melanoma (some studies)

11) thickening of fibrous elements of choroid

Criteria for NF-1

- two or more of following :

1) 6 or more cafe au lait spots (>5 mm <13 years old; >15 mm > 13 years old

2) two or more neurofibromas (or 1 if plexiform)

3) axillary or inguinal freckling

4) optic nerve gioma (NF 1)

5) two or more Lisch nodules (melanocytic hamartomas); by age 6 >90% have them

6) osseus lesion (eg. sphenoid dysplasia)

7) first degree relative with NF

B) NF type II

- 1 in 40,000

chromosome 22q22 (AD)

A) Systemic findings

1) accoustic neuroma (Schwannoma)

2) neurofibroma

3) schwannoma

4) meningioma

5) deafness

6) café au lait

7) axillary freckling - uncommon

B) Ocular

1) PSCC - 50%

2) Lisch nodules - uncommon

3) combined hamartoma of retina

4) optic nerve glioma not seen (or rare)

Criteria for NF-2

1) bilat. CN 8 masses

or

2) 1st degree relative with NF-2 with either

a) unilateral CN 8 mass

or

b) two of

1) neurofibroma

2) schwannoma

3) meningioma

4) PSCC (not glioma)

- gliomas not seen in NF 2

Associated Malignancies?? someone’s notes J

1) pit tumors

2) melanoma

3) breast ca

4) pheo

5) GI cancer

6) GU cancer

2) Tuberous sclerosis (Bourneville’s)

- AD

- chromosome 9

A) Systemic

1) MR (60%)

2) seizures (93%) - EEG abnormal?

3) “adenoma sebaceum” (80%) - angiofibroma

4) ash leaf (80%)

5) shagreen patch

6) astrocytic hamartoma of brain (“brain tubers “)

7) cardiac rhabdomyuoma

8) renal angiolipoma

9) subungal fibroma

10) periventricular calcifications

11) bone lesions

B) Ocular

1) astrocytic hamartoma (retina or ON head) = “mulberry” or “fish eggs” and calcified

2) hypopigmented uveal lesions

3) Angiomatosis Retinae (Von-Hippel Lindau)

- AD (20% are); variable penetrance

- chromosome 3

- 1/100000

A) Systemic

1) cerebellar hemangioblastoma (-Lindau)

2) pheochromocytoma

3) renal cell carcinoma assoc.

4) cysts - pancreas, epididymis

B) Ocular

1) retinal capil. hemangioma (leaks) with large feeder vessels

2) bilatral in 50%

3) leaky vessels in lesion

4) serous RD common

5) cataract and glaucoma secondary to RD

6) Tx. Lesions with cryo or laser

7) annual exams for children

4) Encephalotrigeminal angiomatosis (Sturge Weber)

- sporadic

A) Systemic

1) “port wine” stain (cavernous hemangioma) of face

2) seizures (80%)

3) MR (60%)

4) intracranial calcifications (“railroad track”)

5) treat skin with pulsed dye laser

B) Ocular

1) choroidal cavernous hemangioma (40%)

2) glaucoma (30%)

3) iris heterochromia (darker on involved side)

4) serous RD

5) Racemose Hemangioma (Wyburn Mason)

- non hereditary

1) A-V malformation of brain Ocular

1) A-V malformation

2) unilateral

3) secondary NV glaucoma

4) hemorrhage

6) Ataxia Telangiectasias (Louis Bar)

- AR

- 1 per 40000

- chromosome 11; related to DNA repair

A) Systemic

1) CNS: dysarthria, chorea

2) testicular/ovarian atrophy

3) skin telangiectasias

4) hypo and hyper pigmentation skin

5) poor saccades (like cong. OM apraxia)

6) dystonia

7) hypoplastic thymus and T cell malfunction

8) decresed IgA and prone to infections

9) increased lymphoma and leukemia

10) women carriers have 7 fold increased risk of breast CA (10% of all breast CA)

B) Ocular

1) telangiectasias of conjunctiva (not retina) and lid

2) nystagmus

3) strab

4) oculomotor apraxia

5) decreased OKN

7) Retinal cavernous hemangioma

“retinal-neuro-cutaneous cavernous hemangioma” aka “Weskamp Cotlier” syndrome

- few AD families

1) CNS cavernous hemaingiomas

2) skin cavernous hemangiomas

- refer to neurology because at risk for bleeds from cerebral hemangiomas

8) Incontinentia Pigmenti (Yanoff p.692)

- incontinence of melanin

- X-linked

A) Systemic

1) skeletal

2) teeth

3) CNS (MR, seizures)

B) Ocular

- often unilateral or assymetric

- most signs (3-8) are sequelae of RD

1) corneal scarring

2) conj. pigmentation

3) cataracts

4) strabismus

5) nystagmus

6) microphthalmos

7) glaucoma

8) uveitis

9) blue sclera

10) retina: retrolental mass (from ischemia or inflammation - unknown); like ROP; leads to RD

- Tx: laser or cryo to avascular retina