Vascular Malformations Flashcards
What is Adams Oliver syndrome
ACAST Autosomal dominant CMTC and cardiac, CM (reticulated) Aplasia cutis Skull defects Transverse limb defects
Sturge weber is caused by autosomal recessive mutations in GNAQ
False - somatic mutations
Genetic disorders that can co exist with naevus simplex
Beckwith-Weidemann syndrome (dysmorphic facies, protruding tongue, posterior helical ear pits, Wilms’ rhabdomyosarcoma)
Rubinstein-Taybi
Macrocephaly CM syndrome
What are ocular complications of Sturge Weber
Glaucoma most common,
Also choroidal haemorrhage and retinal detachment
Port wine stain complications
Open bite deformity Enlarged gum and lips (epulides) Gingival bleeding Macrocheilia and lip incompetence Eczematous dermatitis has a predilection for PWS , like naevus simplex
CMTC 5% have limb hypoplasia
False 50%
Port wine stain changes from violet to pink in maturity
False other way around
What is the Klippel Trenaunay Syndrome triad?
Port wine stain
Anomalies veins
Limb hypertrophy
Klippel Trenaunay due to AKT1 mutations
False = PIC3CA, AKT1 is proteus
Complications of capillary malformations with associated overgrowth
Cellulitis Limb length discrepancy DVT, VTE PE Pulmonary HTN Lymphoedema complications —> infection, immobility , pain, eczema , SCC, Stewart-Treves syndrome - lymphangiosarcoma
What is CLAPO
CM of lower lip
LM of tongue and neck
Assymtry and partial overgrowth of face and extremities
Proteus Syndrome features
Progressive worsening with time, Palmoplantar collagenoma
Regional lypohypoplaslia
Ovarian cyst adenomas
Testicular tumours
Epidermal Naevi
Vascular malformations - capillary, venous and lymphatic
SYNDROMIC facies - anteverted nares, ptosis, depressed nasal bridges
What is CLOVES syndrome
Congenital Lipomatosis Overgrowth Vascular anomalies Epidermal Naevi Scoliosis/Skeletal anomalies
HHT gene mutations
HHT1 and HHT2: Endolin and ALK1
Blue rubber bleb naevus syndrome
TEK mutations
GI bleeding, Fe deficiency anaemia
