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Primair lymfoedeem
Bijlage 1
Classificatie en diagnostisch algoritme voor primair lymfoedeem
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Proteus
AKT1
KTS/KT-like
Parkes-Weber
RASA1
Combined vascular
malformation
Lymphangioma
Lymphangiomatosis/
Gorham
WILD syndrome
Congenital
multisegmental
oedema
without systemic
involvement
Milroy disease
FLT4 (VEGFR3)
Milroy-like
Consider
KIF11,
VEGFC
Congenital
unisegmental
oedema
Lower limb +
genital oedema
CLOVE/fibroadipose
hyperplasia
AKT/PIK3/mTOR pathway
4-limb
Consider
GJC2
,Turner
Late onset
multisegmental
lymphoedema
Lower limbs
+/- genital
Consider
GATA2
Lower limb
+ genitalia
Systemic/visceral
involvement pre- or
post-natal onset
Unknown syndrome
No
No
No
Late onset
(>1yr)
Congenital
(onset<1yr)
Yes
Syndromic
Yes
Some
segments
Yes
All
segments
Bilat
Lower
limbs only
Distichiasis
No
No
Known syndrome
e.g. Noonan and Turner
Multisegmental
lymphatic dysplasia
with systemic
involvement (MLDSI)
Generalised lymphatic
dysplasia (GLD)/
Hennekam Syndrome
Consider
CCBE1
Meige
Consider
GJC2
Lymphoedema
distichiasis
FOXC2
Late onset
unilateral leg
lymphoedema
Late onset
unisegmental
lymphoedema
Meige-like
Multiple segments
One limb
Lower
limb
FH +ve
FH -ve
Unilat
Bilat
FH -ve
FH +ve
Yes
Unilat
Yes
Disturbed growth/
cutaneous manifestations/
vascular anomalies
Definition of terminology used in the classification pathway
Congenital onset
Cutaneous manifestations
Distichiasis
Disturbed growth
KT/KT-like
Late onset
Onset of lymphoedema before the age of one year.
Naevi/pigmentation variations (e.g. epidermal naevi)/vascular malformations.
Presence of aberrant eyelashes arising from the meibornian glands.
Hypertrophy (overgrowth) and hypotrophy of bone or soft tissue resulting in altered
length of a limb or body part.
Klippel - Trenaunay/ Klippel - Trenaunay-like syndrome.
Swelling presenting after one year of age.
Definition
Meaning
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