single vs double row of eyelashes
Warning: The NCBI website requires JavaScript to operate. How do the double tabs give you swollen legs JefferyMedical Genetics Unit, St George's Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; Distichiasis is the presence of additional aberrant eyelashes, and is familiar to the annexed surgeons as these tabs sometimes cause intense irritation of the cornea. This may require the removal of epilation tabs (coloration), cryotherapy, electrolysis, cover division operations or laser treatment. The tabs are very thin and originate in the meibomian glands at the back of the plaque. The condition can vary from a few short hairs on a lid, to full set of tabs on both caps. Although individuals are generally aware of the presence of these hairs, they are very often not. This is probably due to the hypoesthesia of the cornea, and/or out the healing tabs. Lymphoedema is chronic inflammation of the tissue, most of the lower extremities, resulting from poor lymphatic drainage in the presence of normal capillary function. Primary lymphedema is caused by an intrinsic abnormality of lymph pathways, is of genetic origin, and may be present from birth or may develop later, often in or after puberty. The inheritance of this disorder is autosomal dominant. In St George's Medical School our group has a long-standing interest in genetics and clinical aspects of the various forms of lymphedema. "Very interesting," you may think, or alternatively, "and what?" and in any case, what is this article doing in an ophthalmology journal? The answer is in the title, since there is a specific form of lymphedema where the swelling of the legs is accompanied by a range of other symptoms, the predominant is dystychiasis. This is at least as common as lymphoma itself, and therefore the disorder is known as lymphedema-distichiasis (LD). In genetic terms, the presence of dystychiasis is inestimable, as it allows a phenotyping defined in a disorder that is known to be both genetically and clinically heterogeneous. We collect a number of families from genetic and dermatological clinics, which allows us to locate the LD gene in the long arm of chromosome 16. From there it was possible to identify the gene, which we did, but not before a group in America that were also interested in lymphedema. They were very good, and of course we were not bitter, not even a little! The gene turned out to be FOXC2, a transcription factor involved in numerous pathways of development, two of which are clearly those of lymphatic and associated regions of the eye, since ptosis is also a characteristic in 30% of individuals with LD. We are very interested in finding families with pure distichiasis We are very interested in finding families with pure distichiasis With the discovery of the gene for LD, we wondered if pure dystychiasis was also caused by mutations in FOXC2. So, we went to an adnexal surgeon, sir. Collin in Moorfields, to find families with this condition. This was successful, as we found three isolated cases and eight families of the records. What we also discovered was that each of them had associated lymphedema. Just as it had not been the practice in the dermatology clinics to look at the inner eyelid, it was not usual in the ophthalmology departments to ask patients to roll their trouser legs, unless perhaps by doing the handshake of the mason. We are very interested in finding families with pure distichiasis, but we wonder if there are such pedigrees, since every time we are told there is such a case, they result in lymphedema. In part, it is a request to the ophthalmologists to help us see if the situation as it currently exists is correct, that is, distichiasis occurs only with the swollen legs. Finding individual individuals with double tabs is of interest, although we do know that some cases of LD only have edema and some only distichiasis (although less than 5% in each case), but families with distichiasis alone are preferable. If we look and the community of ophthalmology look, we must be able to find the answer. Now he returns to the title, which in fact turns out to be misleading. We know the gene of this condition, and that mutations in it produce dystychiasis and swollen legs, but we have no idea how mutations produce their effect. It is quite certain that changes in the FOXC2 gene cause a loss of protein function, so simply having half the amount of the transcription factor harms normal pathways of development. How this affects both lymphatic and eye is currently a mystery. It also seems, unlike other forms of primary lymphedema, that there are too many lymph vessels produced more than too few, although those present are presumably dysfunctional. Why is dystychiasis present from birth, while edema usually appears in puberty or later? Once again, we do not know, although the effect of hormones can play a part. If we are able to analyze families with just distichiasis, or simply ptosis, and identify the genes underlying these conditions, it might be that these acts in the paths controlled by FOXC2, and their discovery could help unravel these development processes. REFERENCESFormats: Share , 8600 Rockville Pike, Bethesda MD, 20894 USA
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