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X. Post Seg 2 > Phakomatoses > Flashcards

Phakomatoses Flashcards

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
Q

What ocular finding is commonly found in NF-2 but not NF-1?

A

PSC

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26
Q

Presumptive Diagnostic Criteria for NF-2

A

Family Hx +

Either Unilateral VS or…

2 of the following:
1. Meningioma
2. Glioma
3. Schwannoma
4. Juvenile PSC
5. Juvenile Cortical CAT

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27
Q

Tuberous Sclerosis

A

Development of Hamartomas in multiple organ systems, from all primary germ layers

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28
Q

Inheritance pattern for Tuberous Sclerosis

A

AD (40%), Sporadic (60%)

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29
Q

Tuberous Sclerosis Triad

A
  1. Epilepsy
  2. Intellectual disability
  3. Skin lesions
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30
Q

Cutaneous lesions typical in a pt with Tuberous Sclerosis

A
  1. Adenoma Sebaceum
  2. Shagreen
  3. Ash Leaf Sign
  4. Ungual fibromas
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31
Q

Adenoma Sebaceum

A

Yellow/red applies in a butterfly distribution on nose and cheeks

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32
Q

Shagreen

A

Patches of diffuse thickening of skin over lumbar region

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33
Q

Ash Lead Sign

A

Hypomelanotic Macules

Areas of hypo-pigmented (similar to vitiligo) on trunk, limbs, and scalp

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34
Q

Ungual Fibromas

A

Growths under finger/toe nails

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35
Q

Systemic clinical signs of tuberous sclerosis

A
  1. Intracranial calcifications —> seizures/intellectual disability
  2. Visceral tumors —> renal, cardiac, and pulmonary
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36
Q

Ocular findings typical in Tuberous Sclerosis pt

A
  1. Retinal astrocytoma
  2. Patchy iris hypopigmentation
  3. Iris Coloboma
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37
Q

T/F: Sturge Weber is congenital

A

TRUE

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38
Q

Sturge Weber Syndrome is also known as…

A

Cerebrofacial Angiomatosis
Encephalofacial Cavernous Hemangiomatosis
Encephalotrigeminal Angiomatosis

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39
Q

Tri-System SWS involves

A

Face, Eyes, Leptomeninges

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40
Q

Bi-System SWS involves

A

Either
Face + eyes or
Face + leptomeninges

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41
Q

“Port Wine Stain”
- also known as?
- typical in which phakomatosis?
- involves what nerve?

A
  1. Facial Nevus Flammeus
  2. SWS
  3. V1 and V2
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42
Q

What intracranial lesion is typical in SWS?

A

Ipsilateral (to skin lesion):
Parietal or Occipital Leptomeningeal Hemangioma

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43
Q

What are some symptoms associated with an intracranial lesion in SWS? What is the management plan?

A
  1. Seizures
  2. Hemiparesis
  3. Changes in mental state

Neurological eval and imaging

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44
Q

Ocular signs typical in SWS? (4)

A
  1. Episcleral Hemangioma
  2. Ipsilateral GLC
  3. Cavernous Choroidal Hemangioma
  4. Iris Heterochromia
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45
Q

What are two Phakomatoses in which you would see Astrocytomas?

A

NF and Tuberous Sclerosis

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46
Q

Why might a patient with SWS get buphthalmos?

A

Increased IOP

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47
Q

Cavernous Choroidal Hemangioma

A

Choroidal mass formed from vascular channels

48
Q

Cavernous Choroidal Hemangioma: 2 Types

A
  1. Circumscribed (Solitary)
  2. Diffuse (Congenital)
49
Q

Cavernous Choroidal Hemangioma usually presents (Uni/Bi)-lateral

A

UNILATERAL

50
Q

Describe Circumscribed Cavernous Choroidal Hemangioma

A

Yellow/orange
Moderately elevated
Posterior Role

51
Q

Does Cavernous Choroidal Hemangioma affect vision?

A

Usually no (asymptomatic)
Unless it causes serous RD —> decreased VA, VF defects, and metamorphopsia

52
Q

T/F: Cavernous Choroidal Hemangioma can be present at birth

A

TRUE; but usually remains undetected until 4th-5th decade

53
Q

Systemic association of Circumscribed Cavernous Choroidal Hemangioma

A

NONE

54
Q

What FA would you expect to see with Circumscribed Cavernous Choroidal Hemangioma?

A

Initial rapid hyperfluorescence in early phases, followed by diffuse/intense late-phase hyperfluorescence

55
Q

Ultrasonography for a Circumscribed Cavernous Choroidal Hemangioma

A

Solid lesion w/ sharp anterior surface and high internal reflectivity without choroidal excavation or orbital shadowing

56
Q

Describe Diffuse Cavernous Choroidal Hemangioma

A

Uveal involvement
Tomato ketchup red fundus
Large areas
Posterior pole

57
Q

Ultrasonography for Diffuse Cavernous Choroidal Hemangioma

A

Diffuse choroidal thickening

58
Q

Which form of Cavernous Choroidal Hemangioma is associated with Sturge Weber?

A

Diffuse

59
Q

Von Hippel Lindau Syndrome

A

Multiple angiomatous (vascular) hamartomas of CNS, retina, and visceral organs

60
Q

Pathophysiology of VHLS and gene involved

A

Mutation on VHL gene (tumor suppressor gene) on chromosome 3p25-p26

61
Q

What phakomatosis is associated with Adrenal Pheochromocytoma?

A

VHLS

62
Q

Diagnostic Criteria for VHLS

A

FHX + co-existing lesion (retina, CNS, or visceral hemangioma)
or
If (-) FHX, ≥ 2 Retinal Capillary Hemangiomas or Hemangioblastomas

63
Q

Difference between VHL Syndrome and VHL Disease

A

Disease = cerebellar involvement

64
Q

Clinical Signs of VHLS

A
  1. Hemangioblastomas of Retina or CNS
  2. Cerebellar Hemangioblastomas
  3. Intracranial Vascular Tumors
65
Q

What is a key clinical sign caused by Adrenal Pheochromocytomas?

A

Acute rise in BP

66
Q

After a pt is diagnosed with VHLS, who should also be genetically tested?

A

First and second degree relatives

67
Q

VHLS Chart: Screening for Pheochromocytoma

A
  • Check BP and Pulse every year after 2
  • Check plasma free metanephrines yearly from 5-65
68
Q

VHLS Chart: Screening for Retinal Hemangioblastima

A
  • DFE every 6-12 months starting before age of 1
  • After 30, yearly screenings
  • Consider wide field photo and wide field FA
69
Q

VHLS Chart: Screening for CNS Hemangioblastoma

A
  • MRI of brain and spine w/ and w/o contrast every 2 yrs after 11
70
Q

VHLS Chart: Screening for Endolymphatic Sac Tumor

A
  • Audiogram every 2 years after 11
  • MRI of Internal Auditory Canal at age 15
71
Q

VHLS Chart : Screening for Pheochromocytoma, Renal Cell Carcinoma, and Pancreatic Neuroendocrine Tumor

A

MRI Abdomen w/ and w/o contrast every 2 yrs after 15

72
Q

General Screening Guidelines for VHLS

A
  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
Q

When to initiate TX with VHLS

A
  1. Progression/growth of tumor
  2. Presence of vision loss (edema, exudates, VH, or RD)
74
Q

Retinal Capillary Hemangioma associated with what disease

A

VHLS

75
Q

What is a Retinal Capillary Hemangioma?

A

Progressive, benign proliferation of existing retinal capillary pericytes and endothelial cells

76
Q

What best describes a Retinal Capillary Hemangioma: Choriostioma, Hamartoma, Hamartia?

A

Hamartoma

77
Q

Retinal Capillary Hemangioma typically presents as (Uni-Bi)-Lateral

A

Actually, 50/50

78
Q

Retinal Capillary Hemangioma initial appearance

A

Small, red-gray mass

79
Q

Retinal Capillary Hemangioma, appearance after growth

A

“Large Pink Balloon”
With AV communications and feeder vessels

80
Q

2 Forms of Retinal Capillary Hemangiomas

A

Peripheral and Juxtapapillary

81
Q

Endophytic Tumors

A

Grow on surface of ON or retina and protrudes into vitreous cavity

82
Q

Exophytic Tumors

A

Modular, orange-colored lesions that grow in outer layers of retina and stays within the retina

typically near ON head

83
Q

Sessile Tumors

A

Flat, gray or orange and develops in middle layers of retina

84
Q

Pathogenesis of Retinal Capillary Hemangioma

A

not well understood, but generally speaking:
faulty vascular endothelium

85
Q

What causes changes in vision with retinal capillary hemangioma?

A

Compromised Inner BRB —> leaky —>
1. Intraretinal edema
2. Retinal hemorrhage
3. Retinal exudation
4. Serous RD

86
Q

Describe pattern of exudates in Retinal Capillary Hemangiomas

A

Forms circinate ring around tumor and may migrate toward posterior pole —> stellate Maculopathy ⭐️

87
Q

What is the risk of Vitreous Traction with Retinal Capillary Hemangiomas?

A

Hemangioma detaches and becomes free-floating

88
Q

T/F: if retinal capillary hemangioma is stable, no need to tx

A

TRUE

89
Q

Why might Propranolol be Rx’d for Retinal Capillary Hemangioma

A

Inhibit HIF —> reduce VEGF, fibroblast factor, and endothelial growth factor

90
Q

T/F: VHLS is a progressive disorder

A

TRUE

91
Q

Wyburn Mason is also known as

A

Retino-Cerebral Arteriovenous Malformation

92
Q

What is the hereditary pattern for WMS?

A

Non-hereditary!

93
Q

Racemose Hemangioma is most closely related to which Phakomatosis?

A

Wyburn Mason Syndrome

94
Q

What organs are affected by WMS?

A

Brain and eyes

95
Q

T/F: there is leakage of AV communications in WBS

A

FALSE

96
Q

Racemose is typically (Uni/Bi)-Lateral

A

Unilateral

97
Q

T/F: Racemose vessels are both larger and numerous than normal vessels

A

TRUE

98
Q

How to treat Racemose?

A

Does not require TX; monitor q6m

99
Q

Cerebral involvement in WMS may lead to…

A

Cerebral hemorrhage or epilepsy

100
Q

Clinical Signs of WMS

A

Orbital AVMs and intra and extra cranial Racemose hemangiomas

101
Q

“Strawberry Nevus”

A

Lid Capillary Hemangioma

102
Q

When should lid capillary hemangioma be treated and how?

A

When induces RE, strabismus, occlusion, or invasion of globe

Beta blockers, steroids, interferons, laser, radiation, or excision

103
Q

M/F: more likely to present with Orbital Capillary Hemangioma

A

Female

104
Q

Most common tumor of the orbit and periorbital areas in childhood

A

Orbital Capillary Hemangioma

105
Q

T/F: Orbital Capillary Hemangioma typically present at birth

A

FALSE; only 30% present at birth, 70% develop later

106
Q

T/F: Orbital Capillary Hemangioma requires immediate treatment

A

FALSE; most will self-resolve

107
Q

What may cause an Orbital Capillary Hemangioma to grow in size and change color?

A

Crying and straining

108
Q

Color of Orbital Capillary Hemangioma

A

Superficial —> Bright red
Preseptal (superior) —> appears dark blue/purple through overlying skin

109
Q

Following discovery of Orbital Capillary Hemangioma, what should immediately be done?

A

SEARCH FOR OTHER LESIONS
Co-existing lesions are common —> IMAGING

110
Q

What tests best show extent of Orbital Capillary Hemangioma, as is required for tx?

A

Ultrasound and Doppler

111
Q

When is the growth of Orbital Capillary Hemangioma most rapid?

A

First 3-6 months

112
Q

Pathophysiology of Retinal Cavernous Hemangioma

A

Splice mutation un CCM1/KRIT gene

113
Q

What testing is necessary after discovery of Retinal Cavernous Hemangioma?

A

MRI to r/o cerebral cavernous hemangioma

114
Q

Retinal Cavernous Hemangioma is what type: exophytic, endophytic, sessile?

A

Sessile

115
Q

What does Retinal Cavernous Hemangioma look like?

A

Grape-like, dark intraretinal aneurysms

116
Q

T/F: Retinal Cavernous Hemangioma do not progress

A

TRUE; may even regress

X. Post Seg 2 (13 decks)

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