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Milroy Disease
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Milroy disease is an autosomal dominant disorder that is responsible for causing congenital primary lymphedema (manifesting as bilateral, painless, and chronic edema at birth and predominantly on the dorsum of the feet, together with hydrocele, prominent veins, cellulitis, upslanting toenails, papillomatosis, urethral abnormalities, and risk for angiosarcoma, lymphangiosarcoma and kaposiform hemangioendothelioma). Molecularly, heterozygous germline mutations in the FLT4 gene are involved in 70% of Milroy disease cases. Diagnosis of Milroy disease is based on clinical criteria, and molecular identification of FLT4 pathogenic variants permits further confirmation. In the absence of specific remedy, management of Milroy disease involves conservative palliative approach supplemented by surgical removal.
Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Mild lymphoedema of hands and feet may be seen in both Turner and Noonan syndromes. Prenatal onset of oedema may be responsible for a number of dysmorphic features, including webbing of the neck. The most common and most severe form of lymphoedema, Milroy disease, follows autosomal dominant inheritance and can usually be recognised at birth. It is genetically heterogeneous with at least four loci involved, including the gene for vascular endothelial growth factor (VEGFR3).
Lymphoedema – pathology and clinical features
Published in Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland, Manual of Venous and Lymphatic Diseases, 2017
Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland
Current opinion suggests that there is a greater range of presentations of primary lymphoedema than presented above, leading to an even more complex pathway for classification.5The initial presentation should establish whether the patient has a known syndrome such as the Noonan or Turner syndromes.If not, then the next step is to determine if there is systemic or visceral involvement such as the Hennekam syndrome.If not, then it is desirable to exclude patients with disturbed growth, cutaneous manifestations or vascular anomalies, as with the Klippel–Trenaunay, Parkes Weber, Proteus, CLOVE or WILD syndromes (see Chapter 26).Only then should patients be separated into early onset (less than one year old) or late onset (older than one year) disease.Early onset includes Milroy disease and multi-segmental variants.Later onset includes Meige disease and distichiasis lymphoedema.
Pathogenesis, management strategies, and outcome of non-communicating extradural spinal arachnoid cyst (NEAC): a systematic review
Published in British Journal of Neurosurgery, 2023
Mohammad Shahidul Islam Khan, Nazmin Ahmed, Kanak Kanti Barua, Bipin Chaurasia, Atul Vats, Atul Goel
As a consequence of spinal dysraphysm, the dura become weakened in the midline or in the area of nerve root sleeve which predispose to formation of cyst.31,32 Without any antecedent history of trauma, surgery, infection, or inflammation, frequent location of the cysts in the aforementioned area stablished this hypothesis. Though a definite genetic predisposition of this condition could not be stablished till now but previous reports of co-existence of this entity between siblings or first-degree relatives were suggestive.4,33 Besides this, associated conditions, like-Milroy disease, Distichiasis, Congenital pigmented nevi, Diastematomyelia, Multiple sclerosis, Marfan syndrome, Neural tube defects, and Syringomyelia strongly demand further research in this field.17,34–36 Apart from developmental origin, trauma, previous history of back surgery, infection or inflammation have been proposed for the possible aetiology by several authors.5,6,8
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
Heterozygous mutations in the gene FLT4 (VEGFR3) cause Milroy disease, which typically presents at birth, or soon after, with bilateral pedal edema [126]. There have been rare reports of antenatal presentation of FLT4/VEGFR3 mutations, including fetuses affected by ascites, pleural effusions and limb edema [127–129].