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Lower limb
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Lymphoedema distichiasis (di and stichos, Greek for 2 and row): There is a mutation in chromosome 16q24.3 FOXC2 gene in patients with a double row of eyelashes; the extra set is usually soft and pale, placed in the meibomian gland openings. Irritation tends to be the presenting complaint before the pubertal onset of lower limb oedema. Vessels tend to be hyperplastic with reflux and may be associated with clefts, heart defects, ptosis and vertebral anomalies.
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
Distichiasis lymphoedema syndrome is hereditary lymphoedema present at birth due to avalvulia and lymph reflux. Patients have double eyelashes (distichiasis) which can range from a few extra lashes to a full double row that arise from the Meibomian glands on the posterior lamella of the tarsal plate. Oedema most often affects the legs, and associated anomalies include short stature, webbed neck, vertebral abnormalities, spinal arachnoid cysts, cleft palate, ptosis, haemangiomas, thoracic duct abnormalities and cardiac defects. It is an autosomal dominant genetic disorder associated with FOXC2 mutation.
Vascular tumours and malformation
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Cameron C Trenor III, Steven J Fishman, Arin K Greene
RASA1 mutations cause capillary malformation–arteriovenous malformation; patients have cutaneous stains and arteriovenous malformations. PTEN mutations cause lipovascular hamartomas, atypical arteriovenous malformations without capillary stains as well as frontal bossing and penile freckling. VEGFR3 mutations can result in congenital lymphoedema. Mutations in TIE2 can cause sporadic venous malformations as well as hereditary cutaneomucosal lesions. FOXC2 mutations are responsible for lymphoedema–distichiasis syndrome; patients have congenital lymphoedema and a double row of eyelashes. Glomulin mutations cause glomuvenous malformations; lesions are small, bluish and painful. Endoglin mutations result in hereditary haemorrhagic telangiectasia. Mutations in KRIT1 are responsible for cerebral cavernous malformations. SOX18 mutations cause hypotrichosis–lymphoedema–telangiectasia syndrome.
A new perspective in oculoplastic surgical management of symptomatic distichiasis in lymphedema-distichiasis syndrome
Published in Orbit, 2019
Twishaa Sheth, Michelle Attzs, Katya Tambe
Lymphedema-distichiasis syndrome (LDS), is a rare autosomal dominant condition, composed of lymphedema and distichiasis. It is associated with the FOXC2 gene with over 50 varying mutations accounting for the loss or gain of protein function.1–3 The lymphedema is typically of the lower limb with a variable age of onset, whereas the distichiasis can range from a little as a few lashes on one tarsal plate, to all four tarsal plates being affected with extra lashes.2,4 Distichiasis is observed in 94% of affected individuals, with ocular complications in 75% of those affected.4 Treatment for the distichiasis is varied with no definitive first-line surgical approach; the most common form of treatment being epilation or cryotherapy and lid split in more severe cases however other techniques such as eyelash trephination have shown some success.5 We describe a novel surgical technique in the treatment of congenital distichiasis.
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
Lymphedema-distichiasis is caused by pathogenic mutations in the forkhead transcription factor gene FOXC2 [16]. The syndrome is characterized by pubertal onset of lower limb lymphedema and additional congenital abnormalities, namely distichiasis (aberrant growth of eyelashes from the meibomian glands). Other malformations are observed including varicose veins, cardiac defects, cleft palate, ptosis and spinal extradural cysts [130]. Cases of nonimmune fetal hydrops with FOXC2 mutations are reported, but it is not a primary feature of the condition suggesting that affected cases may have genetic modifiers, which worsen the severity of the presentation [16,131,132].
Modified treatment of distichiasis with direct tarsal strip excision without mucosal graft
Published in Orbit, 2018
Assaf Rozenberg, Russell Pokroy, Paul Langer, Erez Tsumi, Morris Elias Hartstein
Distichiasis is a condition in which abnormal cilia grow from the posterior aspect of the eyelid margin, frequently from the meibomian gland orifices, posterior to the normal row of lashes. 1 This disorder is either congenital (autosomal dominant or sporadic) or secondary to chronic eyelid margin inflammation or trauma. Distichiasis can result in pain, photophobia, tearing, corneal erosion, infection, corneal scarring, and decreased visual function.