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Phakomatoses Flashcards

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1
Q

What is a Phakomatoses?

A

Broad group of neurological disorders that also affect the skin

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2
Q

What are the 3 most common Phakomatoses?

A

(No order)

Tuberous Sclerosis
Neurofibromatosis
Sturge-Weber Syndrome

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3
Q

Phakomatoses are characterized the presence of at least 1 of the following:

A
  1. Choristiomas
  2. Hamartomas
  3. Hamartias
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4
Q

T/F: Hemangiomas are typically malignant

A

FALSE; typically benign

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5
Q

Choristioma

A

Tumor like growths not normal at the site
(Normal tissue, abnormal location)

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6
Q

Hamartoma

A

Tumors composed of tissue normally found at the site

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7
Q

How are Hamartias different from Hamartomas?

A

Hamartias are Hamartomas that do not grow

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8
Q

NF-1 is also known as

A

Von Recklinghausen Syndrome

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9
Q

NF1 gene is located on which Chromosome

A

17

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10
Q

Inheritance pattern for NF-1

A

AD

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11
Q

Most common Phakomatosis

A

NF-1

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12
Q

Diagnostic Criteria for NF-1

A

2 or more:

  1. (6) or more Cafe-Au-Lait Spots
    • 1.5 cm or larger post-puberty
    • 0.5 cm or larger pre-puberty
  2. (2) or more neurofibromas of any type or (1) plexiform neurofibroma
  3. Freckling in axilla or groin
  4. ON Glioma
  5. (2) or more Lisch Nodules
  6. Bony lesion (dysplasia of sphenoid or dysplasia/thinning of long bone cortex)
  7. FHX
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13
Q

Lisch Nodules aka

A

Iris Hamartomas

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14
Q

Most common ocular manifestation in NF-1

A

Lisch Nodules (95% of pts over 5)

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15
Q

T/F: NF-1 primarily affects motor neurons

A

FALSE; can affect anywhere along peripheral or autonomic nerves and may include internal organs

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16
Q

Other than those included in the diagnostic criteria, what are some other systemic manifestations of NF-1?

A
  1. Nevi on skin
  2. Intracranial tumors (meningiomas and/or gliomas)
  3. HTN
  4. Mental challenges (hemiparesis, seizures, and learning disabilities)
  5. Malignancies
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17
Q

T/F: GLC is a common finding in patients w/ NF-1

A

FALSE; it is rare but when it occurs, it is unilateral and congenital

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18
Q

What is congenital Ectropian uveae and in what phakomatosis would you find this?

A

Iris pigment epithelium on anterior surface of iris stroma

Found in NF-1

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19
Q

Eyelid finding associated with NF-1

A

Nodular or S-shaped plexiform

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20
Q

What are some common posterior segment findings in NF-1?

A
  1. Choroidal hamartoma
  2. Myelinated NFL
  3. Retinal astrocytic hamartoma
  4. CHRPE and Choroidal melanomas
  5. ON gliomas
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21
Q

Inheritance pattern of NF-2

A

Autosomal Dominant

50% inherited, 50% sporadic

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22
Q

NF-2 gene is located on Chromosome

A

22

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23
Q

T/F: all of the ocular findings found in NF-2 can also be found in NF-1

A

FALSE; all findings in NF-1 can be found in NF-2 but not the other way around

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24
Q

What finding definitively confirms NF-2?

A

Bilateral acoustic neuroma aka Vestibular Schwannoma

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25
What ocular finding is commonly found in NF-2 but not NF-1?
PSC
26
Presumptive Diagnostic Criteria for NF-2
**Family Hx** + Either *Unilateral VS* or… *2 of the following*: 1. Meningioma 2. Glioma 3. Schwannoma 4. Juvenile PSC 5. Juvenile Cortical CAT
27
Tuberous Sclerosis
Development of Hamartomas in multiple organ systems, from all primary germ layers
28
Inheritance pattern for Tuberous Sclerosis
AD (40%), Sporadic (60%)
29
Tuberous Sclerosis Triad
1. Epilepsy 2. Intellectual disability 3. Skin lesions
30
Cutaneous lesions typical in a pt with Tuberous Sclerosis
1. Adenoma Sebaceum 2. Shagreen 3. Ash Leaf Sign 4. Ungual fibromas
31
Adenoma Sebaceum
Yellow/red applies in a butterfly distribution on nose and cheeks
32
Shagreen
Patches of diffuse thickening of skin over lumbar region
33
Ash Lead Sign
*Hypomelanotic Macules* Areas of hypo-pigmented (similar to vitiligo) on trunk, limbs, and scalp
34
Ungual Fibromas
Growths under finger/toe nails
35
Systemic clinical signs of tuberous sclerosis
1. Intracranial calcifications —> seizures/intellectual disability 2. Visceral tumors —> renal, cardiac, and pulmonary
36
Ocular findings typical in Tuberous Sclerosis pt
1. Retinal astrocytoma 2. Patchy iris hypopigmentation 3. Iris Coloboma
37
T/F: Sturge Weber is congenital
TRUE
38
Sturge Weber Syndrome is also known as…
Cerebrofacial Angiomatosis Encephalofacial Cavernous Hemangiomatosis Encephalotrigeminal Angiomatosis
39
Tri-System SWS involves
Face, Eyes, Leptomeninges
40
Bi-System SWS involves
Either Face + eyes or Face + leptomeninges
41
“Port Wine Stain” - also known as? - typical in which phakomatosis? - involves what nerve?
1. Facial Nevus Flammeus 2. SWS 3. V1 and V2
42
What intracranial lesion is typical in SWS?
Ipsilateral (to skin lesion): Parietal *or* Occipital Leptomeningeal Hemangioma
43
What are some symptoms associated with an intracranial lesion in SWS? What is the management plan?
1. Seizures 2. Hemiparesis 3. Changes in mental state Neurological eval and imaging
44
Ocular signs typical in SWS? (4)
1. Episcleral Hemangioma 2. Ipsilateral GLC 3. Cavernous Choroidal Hemangioma 4. Iris Heterochromia
45
What are two Phakomatoses in which you would see Astrocytomas?
NF and Tuberous Sclerosis
46
Why might a patient with SWS get buphthalmos?
Increased IOP
47
Cavernous Choroidal Hemangioma
Choroidal mass formed from vascular channels
48
Cavernous Choroidal Hemangioma: 2 Types
1. Circumscribed (Solitary) 2. Diffuse (Congenital)
49
Cavernous Choroidal Hemangioma usually presents (Uni/Bi)-lateral
UNILATERAL
50
Describe Circumscribed Cavernous Choroidal Hemangioma
Yellow/orange Moderately elevated Posterior Role
51
Does Cavernous Choroidal Hemangioma affect vision?
Usually no (asymptomatic) Unless it causes serous RD —> decreased VA, VF defects, and metamorphopsia
52
T/F: Cavernous Choroidal Hemangioma can be present at birth
TRUE; but usually remains undetected until 4th-5th decade
53
Systemic association of Circumscribed Cavernous Choroidal Hemangioma
NONE
54
What FA would you expect to see with Circumscribed Cavernous Choroidal Hemangioma?
Initial rapid hyperfluorescence in early phases, followed by diffuse/intense late-phase hyperfluorescence
55
Ultrasonography for a Circumscribed Cavernous Choroidal Hemangioma
Solid lesion w/ sharp anterior surface and high internal reflectivity without choroidal excavation or orbital shadowing
56
Describe Diffuse Cavernous Choroidal Hemangioma
Uveal involvement Tomato ketchup red fundus Large areas Posterior pole
57
Ultrasonography for Diffuse Cavernous Choroidal Hemangioma
Diffuse choroidal thickening
58
Which form of Cavernous Choroidal Hemangioma is associated with Sturge Weber?
Diffuse
59
Von Hippel Lindau Syndrome
Multiple angiomatous (vascular) hamartomas of CNS, retina, and visceral organs
60
Pathophysiology of VHLS and gene involved
Mutation on **VHL gene** (tumor suppressor gene) on chromosome **3p25-p26**
61
What phakomatosis is associated with Adrenal Pheochromocytoma?
VHLS
62
Diagnostic Criteria for VHLS
FHX + co-existing lesion (retina, CNS, or visceral hemangioma) *or* If (-) FHX, ≥ 2 Retinal Capillary Hemangiomas or Hemangioblastomas
63
Difference between VHL Syndrome and VHL Disease
Disease = cerebellar involvement
64
Clinical Signs of VHLS
1. Hemangioblastomas of Retina or CNS 2. Cerebellar Hemangioblastomas 3. Intracranial Vascular Tumors
65
What is a key clinical sign caused by Adrenal Pheochromocytomas?
Acute rise in BP
66
After a pt is diagnosed with VHLS, who should also be genetically tested?
First and second degree relatives
67
VHLS Chart: Screening for Pheochromocytoma
- Check **BP and Pulse** every year after 2 - Check **plasma free metanephrines** yearly from 5-65
68
VHLS Chart: Screening for Retinal Hemangioblastima
- DFE every 6-12 months starting before age of 1 - After 30, yearly screenings - Consider wide field photo and wide field FA
69
VHLS Chart: Screening for CNS Hemangioblastoma
- MRI of brain and spine w/ and w/o contrast every 2 yrs after 11
70
VHLS Chart: Screening for Endolymphatic Sac Tumor
- Audiogram every 2 years after 11 - MRI of Internal Auditory Canal at age 15
71
VHLS Chart : Screening for Pheochromocytoma, Renal Cell Carcinoma, and Pancreatic Neuroendocrine Tumor
MRI Abdomen w/ and w/o contrast every 2 yrs after 15
72
General Screening Guidelines for VHLS
1. Annual Physical Exam 2. Annual CEE w/ DFE after 5 — biannual after 30 3. 24-Hour Urin test for vanillymandelic acid and catcholamine after 10 (for pheochromocytoma) 4. After 15-ish, abdomen + brain imaging and renal ultrasound
73
When to initiate TX with VHLS
1. Progression/growth of tumor 2. Presence of vision loss (edema, exudates, VH, or RD)
74
Retinal Capillary Hemangioma associated with what disease
VHLS
75
What is a Retinal Capillary Hemangioma?
Progressive, benign proliferation of existing retinal capillary pericytes and endothelial cells
76
What best describes a Retinal Capillary Hemangioma: Choriostioma, Hamartoma, Hamartia?
Hamartoma
77
Retinal Capillary Hemangioma typically presents as (Uni-Bi)-Lateral
Actually, 50/50
78
Retinal Capillary Hemangioma **initial** appearance
Small, red-gray mass
79
Retinal Capillary Hemangioma, appearance **after growth**
“Large Pink Balloon” With AV communications and feeder vessels
80
2 Forms of Retinal Capillary Hemangiomas
Peripheral and Juxtapapillary
81
Endophytic Tumors
Grow on surface of ON or retina and protrudes into vitreous cavity
82
Exophytic Tumors
Modular, orange-colored lesions that grow in outer layers of retina and stays within the retina *typically near ON head*
83
Sessile Tumors
Flat, gray or orange and develops in middle layers of retina
84
Pathogenesis of Retinal Capillary Hemangioma
*not well understood, but generally speaking:* faulty vascular endothelium
85
What causes changes in vision with retinal capillary hemangioma?
Compromised Inner BRB —> leaky —> 1. Intraretinal edema 2. Retinal hemorrhage 3. Retinal exudation 4. Serous RD
86
Describe pattern of exudates in Retinal Capillary Hemangiomas
Forms circinate ring around tumor and may migrate toward posterior pole —> stellate Maculopathy ⭐️
87
What is the risk of Vitreous Traction with Retinal Capillary Hemangiomas?
Hemangioma detaches and becomes free-floating
88
T/F: if retinal capillary hemangioma is stable, no need to tx
TRUE
89
Why might Propranolol be Rx’d for Retinal Capillary Hemangioma
Inhibit HIF —> reduce VEGF, fibroblast factor, and endothelial growth factor
90
T/F: VHLS is a *progressive* disorder
TRUE
91
Wyburn Mason is also known as
Retino-Cerebral Arteriovenous Malformation
92
What is the hereditary pattern for WMS?
Non-hereditary!
93
Racemose Hemangioma is most closely related to which Phakomatosis?
Wyburn Mason Syndrome
94
What organs are affected by WMS?
Brain and eyes
95
T/F: there is leakage of AV communications in WBS
FALSE
96
Racemose is typically (Uni/Bi)-Lateral
Unilateral
97
T/F: Racemose vessels are both larger and numerous than normal vessels
TRUE
98
How to treat Racemose?
Does not require TX; monitor q6m
99
Cerebral involvement in WMS may lead to…
Cerebral hemorrhage or epilepsy
100
Clinical Signs of WMS
Orbital AVMs and intra and extra cranial Racemose hemangiomas
101
“Strawberry Nevus”
Lid Capillary Hemangioma
102
When should lid capillary hemangioma be treated and how?
When induces RE, strabismus, occlusion, or invasion of globe Beta blockers, steroids, interferons, laser, radiation, or excision
103
M/F: more likely to present with Orbital Capillary Hemangioma
Female
104
Most common tumor of the orbit and periorbital areas in childhood
Orbital Capillary Hemangioma
105
T/F: Orbital Capillary Hemangioma typically present at birth
FALSE; only 30% present at birth, 70% develop later
106
T/F: Orbital Capillary Hemangioma requires immediate treatment
FALSE; most will self-resolve
107
What may cause an Orbital Capillary Hemangioma to grow in size and change color?
Crying and straining
108
Color of Orbital Capillary Hemangioma
Superficial —> Bright red Preseptal (superior) —> appears dark blue/purple through overlying skin
109
Following discovery of Orbital Capillary Hemangioma, what should immediately be done?
SEARCH FOR OTHER LESIONS Co-existing lesions are common —> IMAGING
110
What tests best show extent of Orbital Capillary Hemangioma, as is required for tx?
Ultrasound and Doppler
111
When is the growth of Orbital Capillary Hemangioma most rapid?
First 3-6 months
112
Pathophysiology of Retinal Cavernous Hemangioma
Splice mutation un CCM1/KRIT gene
113
What testing is necessary after discovery of Retinal Cavernous Hemangioma?
MRI to r/o cerebral cavernous hemangioma
114
Retinal Cavernous Hemangioma is what type: exophytic, endophytic, sessile?
Sessile
115
What does Retinal Cavernous Hemangioma look like?
Grape-like, dark intraretinal aneurysms
116
T/F: Retinal Cavernous Hemangioma do not progress
TRUE; may even regress

Y. Post Seg 2 (13 decks)

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