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Dermatology Board Prep > DERM (09) Genodermatoses > Inherited Vascular Disorders > Flashcards

Inherited Vascular Disorders Flashcards

1
Q

What is the gene and mode of inheritance for Sturge-Weber syndrome?

A

Gene: GNAQ

  • Somatic mosaic mutation
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2
Q

What is the clinical manifestation of Sturge-Weber syndrome?

A

Capillary malformation in V1 (ophthalmic branch of trigeminal nerve) and V2 (>V3) distribution

  • Only 10% of pts w/ malformation in V1 will have SWS
  • Combo of V2 and V3 = increased risk, 30% (also bilateral increases risk)
  • Under the malformation, due to increased blood flow you get soft tissue and skeletal hypertrophy
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3
Q

What are some associated findings in Sturge-Weber syndrome?

A

Ipsilateral leptomeningeal capillary malformation (angiomatosis) of brain and eye

  • Seizures (usually in first year of life if they happen)
  • Developmental delay/intellectual disability
  • Focal neurologic deficits
  • Ophthalmologic: Glaucoma (most common) optho issues occur in 60%
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4
Q

What cutaneous finding portends to worse prognosis in Sturge-Weber syndrome?

A

Bilateral facial capillary malformations involving V1 distribution

This portends to an increased risk of seizures and more profound developmental delay

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5
Q

Workup for a pt w/ Sturge-Weber syndrome?

A

Optho consult, EEG (consider), MRI

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6
Q

What neuropathology can occur in Sturge-Weber syndrome?

A

Ipsilateral leptomeningeal capillary malformation (angiomatosis) of the brain and eye

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7
Q

What can be seen on CT exam in Sturge-Weber syndrome?

A

Cortical calcifications that resemble “tram track lines”

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8
Q

What is the most common ophthalmologic complication in Sturge-Weber syndrome? ?

A

Glaucoma

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9
Q

What is the main driver of prognosis in Sturge-Weber syndrome?

A

Leptomeningeal involvement

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10
Q

How many phakomatosis pigmentovascularis syndromes are there?

A

5

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11
Q

What are the phakomatosis pigmentovascularis syndromes?

A

They are widespread capillary malformation in addition to other cutaneous findings

Can have extracutaneous features like neurologic, MSK, and ocular findings

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12
Q

What is phakomatosis pigmentovascularis syndrome type I?

A

Port-wine stain + Epidermal nevus

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13
Q

What is phakomatosis pigmentovascularis syndrome type II?

A

Phakomatosis cesioflammea

PWS + dermal melanocytosis +/- nevus anemicus; most common form (85%); roughly 50% have major complications (Sturge-Weber, Parkes-Weber, or KTS

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14
Q

What is phakomatosis pigmentovascularis syndrome type III?

A

Phakomatosis spilorosa

PWS + nevus spills +/- nevus anemicus

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15
Q

What is phakomatosis pigmentovascularis syndrome type IV?

A

PWS + dermal melanocytosis + nevus spilus +/- nevus anemicus

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16
Q

What is phakomatosis pigmentovascularis syndrome type V?

A

Phakomatosis cesiomarmorata

Cutis marmorata telangiectatica congenita + dermal melanocytosis

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17
Q

What is the gene and inheritance of phakomatosis pigmentokeratotica?

A

HRAS, 2/2 post-zygotic mutation

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18
Q

What is the presentation of phakomatosis pigmentokeratotica?

A

Speckled lentiginous nevus (nevus spilus) in conjunction w/ nevus sebaceous

  • Neurologic abnormalities may include: seizures, hemiparesis, and intellectual impairment
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19
Q

What vitamin deficiency can develop in phakomatosis pigmentokeratotica?

A

Hypophosphatemic vitamin D-resistant rickets

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20
Q

What is the gene involved in Klippel-Trenaunay syndrome?

A

PIK3CA

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21
Q

What is the clinical presentation in Klippel-Trenaunay syndrome?

A

Capillary malformation, venous malformation, and or lymphatic malformation with soft tissue and /or bone hypertrophy of one limb

Most common on lower extremitites (95%)

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22
Q

What are the potential complications in Klippel-Trenaunay syndrome?

A

Complications include the deep vein thrombosis and thrombophlebitis, GI bleeding, PE, vascular blebs and pain, and high-output cardiac failure

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23
Q

What is the gene and inheritance found in Proteus syndrome?

A

AKT1 (previously thought to be PTEN), and it is a somatic activating mutation (leads to progressive overgrowth)

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24
Q

What are the cutaneous lesions seen in Proteus Syndrome?

A

Cerebriform connective tissue nevus (often plantar collagenoma form) [This is pathognomonic if seen]

Capillary/venous/lymphatic malformation

Epidermal nevi

Lipomas

CALM

Focal atrophy/dermal hypoplasia

Varicosities

Partial lipohypoplasia

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25
Q

What are the CNS findings in Proteus Syndrome?

A

Hemimegalencephaly and impaired intelligence

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26
Q

What is the ophthalmologic findings in Proteus Syndrome?

A

Nystagmus, strabismus, cataracts, and myopia

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27
Q

What are the MSK findings in Proteus Syndrome?

A

Distinctive facies: dolichocephaly, down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, and open mouth position

  • Also can have an overgrowth of soft tissue and bone of the extremities, digits, cranium, vertebrae, and external auditory meatus
  • Can also lead to hyperostoses and scoliosis
28
Q

What tumors can be seen in Proteus Syndrome?

A

Bilateral ovarian cystadenoma and parted monomorphic adenoma

29
Q

What organ findings are seen in Proteus Syndrome?

A

Organomegaly

  • Restrictive lung disease, pulmonary emphysema, recurrent pneumonia
30
Q

What is the gene associated with Beckwith-Wiedemann syndrome?

A

p57(KIP2) gene

31
Q

What are the clinical findings in Beckwith-Wiedemann syndrome?

A

Macrosomia/gigantism (eight and weight >97%)

  • Facial capillary malformation of glabella, mid-forehead and upper eyelid
  • macroglossia
  • Omphalocele/exomphalos
  • Hemihyperplasia
  • Anterior linear earlobe creases and posterior helical ear pits
  • Visceromegaly

Neonatal hypoglycemia

32
Q

There is an increased risk of which tumors in Beckwith-Wiedemann syndrome?

A

Embryonal tumors like Wilms’ tumor (#1), rhabdomyosarcoma, neuroblastoma, and hepatoblastoma

33
Q

What are the genes involved in macrocephaly capillary malformation syndrome?

A

AKT3, PIK3CA, or PIK3R2

34
Q

What are the clinical findings in macrocephaly capillary malformation syndrome?

A

Macrocephaly and frontal bossing

  • Widespread reticulated capillary malformation, often in the mid-face (philtrum and glabella)
  • Hemihypertrophy in the contralateral side of body from the capillary malformation
  • progressive neurologic dysfunction –> developmental delay, seizures, hypotonia
  • Syndactyly (especially w/ the 2 and 3 toes
35
Q

There is an increased risk of what tumor in macrocephaly capillary malformation syndrome?

A

Increased risk of Wilms’ tumor

36
Q

What is familial cutaneous and mucosal venous malformation syndrome?

A

TIE2 mutation

  • Has a lot of overlap w/ blue rubber bleb syndrome (also TIE2 mutations)
37
Q

What is the gene involved in Maffucci syndrome?

A

Most cases (80%) are 2/2 to mutations in isocitrate dehydrogenase (IDH1 and IDH2)

38
Q

What is the first sign of Maffucci syndrome?

A

Deep venous malformations (soft, compressible, and bluish nodules) on the hands and feet

39
Q

What bone tumors are associated with Maffucci syndrome?

A

Enchondromas –> develop on the phalanges and long bones, and predispose to short stature, fractures, and limb length differences

can also get neurologic issues from spine and skull deformities

40
Q

What is the clinical course seen in Maffucci syndrome?

A

Bone fractures 2/2 to non ossification: 50% risk of chondrosarcoma; lymphangiosarcoma can also occur

41
Q

What is the presentation of Blue-rubber bleb nevus syndrome?

A

Sporadic usually

  • Presents @ birth/early childhood
  • Presents w/ venous malformations that are multiple, blue-violaceous, compressible papules and nodules w/ hyperhidrosis overlying lesions
  • These are located on the trunk and extremities, mucosa GI tract, liver and CNS
  • Size and # increases with age
42
Q

What is seen on histology in blue-rubber bleb nevus syndrome?

A

Ectatic vascular spaces w/ single-layer endothelial wall surrounded by fibrous tissue

  • Seen in the deep dermis or sub-cutis
43
Q

What are some of the most serious complications in blue-rubber bleb nevus syndrome?

A

Small intestinal blebs can lead to GI bleed or occult/chronic bleeding

44
Q

What is the gene involved in congenital lymphedema (Nonne-Milroy syndrome)?

A

FLT4 gene, AD

45
Q

What is the clinical presentation of congenital lymphedema?

A

Presents @ birth or soon after persists for life

  • Painless pitting edema of b/l lower extremities
  • can often have hydrocele, prominent veins and upslanting toenails
46
Q

Treatment options in congenital lymphedema?

A

Good skin hygiene, massage, use of compression garments, and sometimes surgical interventions

47
Q

What is a lymphedema-distichiasis syndrome?

A

Also hereditary lymphedema, peripubertal onset (10-30) yrs; AD inheritance; FOXC2 mutation

  • Has the lower extremity edema + distichiasis (extra eyelashes)
48
Q

What is the mutation involved in Parkes-Weber syndrome?

A

RASA1

49
Q

What are the clinical manifestations in Parkes-Weber syndrome?

A

Capillary malformations, venous malformations, lymphatic malformations, and multiple fast-flow arteriovenous malformations/shunts

50
Q

What is the main thing that seperates Parkes-Weber syndrome from Kleppel-Trenaunay syndrome?

A

KTS only has the slow-flow malformations, not the fast flow

51
Q

What areas are usually affected in Parkes-Weber syndrome?

A

Usually the lower extremities, you get soft tissue and bone involvement

52
Q

What tests can be done to differentiate Parkes-Weber syndrome from Kleppel-Trenaunay syndrome?

A

Duplex ultrasound and MRI/MRA

53
Q

Prognosis in Parkes-Weber syndrome?

A

Can lead to high output cardiac failure in infancy or later in life

  • Also can get lytic bone lesions

Ultimately bad prognosis after puberty w/ continued growth of the arteriovenous malformations

54
Q

In what conditions can you see angiokeratoma corporis diffusum?

A

Fabry disease, fucosidosis, GM1 gangliosidosis, silicosis, galactosialidosis, aspartyl-glycosaminuria, and Kanzaki dz

55
Q

What is Cobb syndrome?

A

Spinal hemangioma or AVM (most common) + cutaneous capillary malformation of the same metamere of the torso

56
Q

Cutaneous manifestations in Cobb syndrome?

A

Faint erythema (elicited w/ rubbing affected area or Valsalva maneuver

  • On the lumbar back
  • Painful throbbing can develop
57
Q

What are the neurologic abnormalities seen in Cobb syndrome?

A

These are due to the enlarging AVM

-Includes back pain or headache, muscle atrophy, weakness/numbness, and bowel/bladder dysfunction

Get MRI

58
Q

What is the affected gene and the mode of inheritance for Fabry’s dz?

A

XLR, lysosomal storage dz 2/2 deficiency of alpha-galactosidase (GLA mutation)

59
Q

What is the pathophysiology of Fabry Disease?

A

Glycosphingolipids accumulate in the vascular endothelium and in epithelial, perithelial, and smooth muscle cells of multiple organs (skin, eye, heart, brain, kidney, and periphery nerves

60
Q

What is the clinical manifestation of Fabry’s dz?

A

Thousands of angiokeratomas in the “bathing suite” distribution between umbilicus and knees, as well as oral mucosa/conjunctiva; a/w hypohidrosis

  • “Whorl-like” corneal opacities, and posterior capsular cataracts
61
Q

What is a “Fabry Crisis”

A

Episodic or chronic paresthesias that can be triggered by stress or temperature/fatigue.

  • this can be an initial manifestation in early childhood
  • Can go on to lead to peripheral neuropathy
62
Q

Systemic noncutaneous sx’s in Fabry’s dz?

A

Cardiac rhythm, conduction issues, cardiomegaly, congestive heart failure, cerebrovascular accidents

63
Q

What classic urinary finding can be seen in Fabry’s disease?

A

Maltese crosses in the urine (birefringent lipid globules)

64
Q

Tx of Fabry’s dz?

A

Recombinant enzyme therapy which can delay organ damage

65
Q

Prognosis of Fabry’s dz?

A

Median age of death is 50 years –> cardiac or neuro complications

66
Q

What is fucosidosis?

A

AR

Mutation/deficiency in alpha-L-fucosidase

Hypo/hyperhidrosis, coarse facies, progressive neuromotor and cognitive deterioration/seizures, growth failure, viseromegaly, recurrent infections, and dysostosis multiplex

  • fatal
67
Q

What is GM1 gangliosidosis?

A

AR lysosomal storage dz

  • Mutation in beta-galactosidase-1
  • There are 3 forms (infantile), (late infantile/juvenile), and Adult-onset form
  • Infantile type is rapidly progressive hypotonia and neurogednerative dz, coarse facies, corneal opacities, w/ cherry-red spots on fundoscopy, hepatosplenomegaly and dysostosis multiplex
  • The late form is more gradually progressive
  • The adult form is progressive extrapyramidal sx’s
  • Cardiomyopathy can develop in any type, ultimately fatal

DERM (09) Genodermatoses (13 decks)

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