DermKnowledgeBASE: Lymphedema distichiasis Syndrome

Lymphedema distichiasis Syndrome

Semantic LIterature Summary Engine (SLISE)

( SLISE(Summary) - Drag this link to bookmarks bar for instant search)

Skin Deep - A Dermatology Blog

Loading........Please wait.

The text is the summary of recent articles on Lymphedema distichiasis Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

Mutations in the FOXC2 gene are associated with lymphedema-distichiasis syndrome [1]. Besides ophthalmologic concerns in Children, distichiasis may be part of the lymphedema-distichiasis syndrome, which presents with lymphedema of variable time of onset [2]. The authors report the case of a 22-year-old male patient who had been treated for distichiasis and followed for 16 years [3]. At his initial evaluation, at 6 years of age, he presented solely with ocular complaints due to distichiasis [4]. Other associated features that have been reported include varicose veins, cleft palate, congenital Heart defects, and ptosis [5].

Foxc2 is expressed in the developing Kidney and therefore congenital Renal anomalies may well be associated, potentially as a low penetrance feature [6]. The authenticity of established iPSC line, LDS-iPSC8, was confirmed by the expression of stem cell markers and the differentiation capability into three germ layers [7]. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes [8]. We used a polycistronic lentiviral vector (hSTEMCCA-loxP) encoding OCT4, SOX2, KLF4, and cMYC genes and containing loxP sites, excisible by Cre recombinase, to reprogram patient-specific Fetal Cells derived from prenatal diagnosis for several genetic disorders, such as myotonic Dystrophy type 1 (DM1), β-thalassemia (β-Thal), lymphedema-distichiasis syndrome (LDS), spinal muscular atrophy (SMA), Cystic Fibrosis (CF), as well as from wild-type (WT) Fetal Cells [9]. The FOXC2 Mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype [10].

The risk of lymphedema after stripping in patients with previous pelvic Surgery including lymph node Excision and/or radiotherapy remains unknown [11]. In patients with lower limb lymphedema wearing strong elastic compression stockings, stripping provides little clinical improvement and can worsen volume [12]. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2 [13]. Due to the vast number of these diseases, a clinician may become overwhelmed by the volume of data, making it difficult to incorporate newer information into his or her clinical practice [14]. Based on this classification system the following 10 diseases (the first five manifesting at birth, the last five later in life) are considered more likely to be encountered by the typical oculoplastic surgeon and reviewed in detail: blepharophimosis-ptosis-epicanthus inversus syndrome, congenital fibrosis of the extraocular muscles, lymphedema-distichiasis syndrome, neurofibromatosis type 1, congenital myasthenic syndrome, oculopharyngeal muscular dystrophy, chronic Progressive external ophthalmoplegia, myotonic dystrophy, neurofibromatosis type 2, and basal cell nevus syndrome [15].

Prevention of primary manifestations: The implementation of hosiery prior to the development of lymphedema may be beneficial in reducing the extent of Edema [16]. In this report, we describe a proband that presented with distichiasis, microcephaly, Bilateral grade IV vesicoureteral reflux requiring ureteral re-implantation, mild intellectual impairment and apparent glomuvenous malformations (GVM) [17]. We studied three independent families with LD presenting with both lymphedema and distichiasis [18]. Spinal extradural arachnoid Cysts have been observed in some families but their true frequency is unknown [19]. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis [20].

Its association with hereditary lymphedema has been reported on one occasion but never with lymphedema-distichiasis syndrome [21]. Patient characteristics conform to previous reports with the exception of distichiasis, which was found in only 2 patients out of 11 [22]. Three extra rows of eyelashes (congenital distichiasis) were found bilaterally on upper and lower eyelids [23]. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis (double row of eyelashes) [24]. On ED 4, its expression domain coincides with that of Prox1 in the jugular region [25].

It has been shown that Prox1 expression in a subpopulation of venous endothelial cells induces transdifferentiation into LECs [26]. Detailed study showed that the family has the lymphedema-distichiasis syndrome [27]. Among family members examined, a total of ten in two generations manifested all or some of the following features: SEDAC, distichiasis and lymphedema [28]. These findings, together with rarity of both distichiasis and lymphedema in the General population, support that all of the ten members were affected with one clinical entity, the lymphedema-distichiasis syndrome [29].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 ,

Press Refresh to fetch fresh content with references from pubmed. This content was cached on

comments powered by Disqus


This is an experimental application for healthcare professionals. The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. - Evidence based skincare free

About Me

I have varied research interests ranging from eHealth, Health Information Exchange, Clinical Trials and Research, Contact Dermatitis, Bioinformatics, and Cosmetic Dermatology. I have work experience in Canada as an eHealth analyst, and in Dubai and India as a Specialist Dermatologist.


Bell Raj Eapen
Hamilton, ON