Bafl Exam 4: Vascular Malformations

Front 1

clinical presentation?

Back 1

Eccrine Angiomatous Hamartoma-- increased number of BV and lymphatics, intimately associated with increased eccrine units

rare, usually present at birth as a brown verrucous plaque with hyperhidrosis and hypertrichosis on extremities

Front 2

Mutation in Sturge Weber? Syndrome?

Back 2

GNAQ

Sturge–Weber syndrome

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face (V1 distribution- ophthalmic branch), glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). **tram track calcifications

Front 3

Mutation in Parkes Weber? Syndrome?

Back 3

RASA1

PWS is characterized by the venous malformations, cutaneous capillary malformations, and lymphatic malformations found in Klippel–Trénaunay–Weber syndrome along with arteriovenous malformation. It also can include fistulas occurring with skeletal or soft tissue hypertrophy

This is a FAST FLOW

Front 4

Mutation in capillary malformation-AVM syndrome?

Back 4

RASA1

Front 5

Mutation in Klippel Trenaunay? Clinical?

Back 5

VG5Q, RASA1, GNAQ

sporadic, vascular malformation of a limb associated with bone and soft tissue hypertrophy of the affected extremity with lymphatic and deep venous insufficiency

Front 6

Mutation in microcephaly-capillary malformation syndrome?

Back 6

STAMBP

Front 7

Mutation in macrocephaly capillary malformation polymicrogyria syndrome? Presentation?

Back 7

PIK3CA

macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.

Front 8

Mutation in Rubinstein Taybi syndrome? Clinical?

Back 8

CREBBP

vascular malformation, broad thumbs, beaked nose, mental retardation, congenital heart defects, cryptochidism

Front 9

Mutation in Beckwidth Wiedemann syndrome? Clinical?

Back 9

KIP2 (imprinting defect H19/IGF2)

facial vascular malformation, macroglossia, hemihypertrophy of viscera a/w Wilms tumor, hepatoblastoma, circular depression over rim of helices, linear earlobe crease

Front 10

Mutation in Proteus syndrome? Clinical?

Back 10

AKT/PTEN

cutaneous findings of hyperkeratotic epidermal nevi, palmoplantar cerebriform connective tissue nevi, capillary malformation, hemangiomas wtih gigantism of hands/feet, hyperostoses of epiphyses and skull (esp ext auditory canal), thin limbs, lung cysts, bilateral ovarian cystadenomas

Front 11

Mutation in Bannayan Riley Ruvalcaba? Clinical?

Back 11

PTEN

macrocephaly, pigmented macules of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.

increased risk of thyroid cancers and autoimmune thyroid conditions

Front 12

Mutation in blue rubber bleb nevus? Clinical?

Back 12

Venous malformations (slow flow)

TIE2/TEK on ch 9p21

multiple tender cutaneous and GI venous malformations (MC colon), cardiac malformations

presents at birth or develops by puberty

compressive blue papulonodules on trunk/arms, painful with increased hyperhidrosis and nocturnal pain

GI malformations can cause GI bleeding and intussusception

Front 13

Mutation in Maffucci syndrome? Clinical?

Back 13

IDH1 > IDH2 (PTH/PTHrP type I receptor)

venous malformations (superficial and deep) of hands/feet, benign endochondromas, increased risk of chondrosarcomas and less often sarcomas, angiosarcomas can be fatal

Front 14

What are the PTEN mutation syndromes?

Back 14

Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, Bannayan Riley Ruvalcaba syndrome

Front 15

What is Ollier syndrome?

Back 15

endochondromas only

Front 16

What is the mutation in Cornelia de Lange? clinical?

Back 16

NIPBL

cutis marmorata, synophris, trichomegaly, craniofacial abnormalities, MR, deafness, low pitched cry, clindodactyly

Front 17

Vascular stains?

Back 17

CD31, CD34, D2-40, GLUT 1, ERG

Front 18

Look up phakomatosis pigmentovascularis

Back 18

LOOK IT UP

Front 19

What is CLOVES syndrome? Mutation?

Back 19

Congenital Lipomatosis Overgrowth, Vascular malformations, Epidermal nevi, Skeletal spine abnormalities

PIK3CA defect

Front 20

What is Gorham-Stout syndrome?

Back 20

vascular and/or lymphatic malformations of the skin

diffuse skeletal and muscular abnormalities

osteolysis ('disappearing bone disease')

pathologic fractures

Front 21

What is Bockenheimer syndrome?

Back 21

diffuse phlebectasia, upper > lower extremities, may involve muscles

Front 22

What is cutis marmorata telangiectatica congenita?

Back 22

onset at birth, presents with a blanching reticulated vascular pattern on trunk/extremities with segmental distribution

associated anomalies in 50% of patients (varicosities, nevus flammeus, macrocephaly, ulceration, hypoplasia, hypertrophy of soft tissue/bone)

Front 23

What is adams oliver syndrome?

Back 23

aplasia cutis congenita on scalp (with skull ossification defect), extensive cutis marmorata, limb defects, cardiac abnormalities

abnormal vascular development

Front 24

Staining pattern?

Back 24

Verrucous hemangioma

GLUT1+, WT1+, CD31+, CD34+

D2-40 negative

Front 25

Differences between HHT1 and HHT2?

Back 25

HHT1: ENG gene (endoglin), earlier onset telangiectases, epistaxis, pulmonary AVM

HHT2: ACVRL1/ALK1 (activin A receptor type II like kinase), more hepatic involvement

Front 26

Generalized essential telangiectasia is more common in what populations?

Back 26

women, more prominent in puberty, pregnancy and with hormones

Front 27

This is present at birth and exacerbated by heat and sweating.

Back 27

Unilateral nevoid telangiectasia

Front 28

Mutation in Ataxia Telangiectasia? Inheritance?

Back 28

AR

ATM

Front 29

Clinical presentation of Ataxia Telangiectasia? What typically presents first?

Back 29

mutation in ATM (inability to repair chromosomal strand breaks --> sensitivity to ionizing radiation)

presents first with ataxia (2-3 years old) --> telangiectasias on bulbar conjunctivae, premature aging, decreased purkinje fibers in cerebellum, recurrent sinul and pulmonary infections

death in 2nd or 3rd decade, heteroxygoes have elevated risk of cancer, esp breast

Front 30

Angiokeratoma corporis diffusum is characteristic of what disease?

Back 30

Fabry disease: a-galactosidase A deficiency

Front 31

Clinical presentation of Fabry disease?

Back 31

a-galactosidase A deficiency: X linked, accumulation of neutral glycolipid ceramide trihexidose in lysosomes

painful paresthesias in extremities, angiokeratomas in bathing suit distribution, corneal/lenticular opacities, progressive renal disease, coronary and CNS vascular disease, 'maltese cross' in urine