Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.
Mansour
Sahar
S
SW Thames Regional Genetics Service, St. George's, University of London, London, UK. smansour@sgul.ac.uk
Connell
Fiona
F
Steward
Colin
C
Ostergaard
Pia
P
Brice
Glen
G
Smithson
Sarah
S
Lunt
Peter
P
Jeffery
Steve
S
Dokal
Inderjeet
I
Vulliamy
Tom
T
Gibson
Brenda
B
Hodgson
Shirley
S
Cottrell
Sally
S
Kiely
Louise
L
Tinworth
Lorna
L
Kalidas
Kamini
K
Mufti
Ghulam
G
Cornish
Jackie
J
Keenan
Russell
R
Mortimer
Peter
P
Murday
Victoria
V
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000150:complications / Q000235:genetics; D038061:Lower Extremity Deformities, Congenital; D008209:Lymphedema / Q000150:complications* / Q000235:genetics; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics; D055815:Young Adult