Lymphedema distichiasis is also known as "double row of eye lashes". This is associated with hereditary lymphedema. The mutation of the gene FOXC2 mutation is involved. LE and many eye irritations are associated with this condition. This is related to an autosomal dominant gene, believed to be caused by the transcription factor gene MFH1
Figueroa Syndrome includes a cleft palate and lymphedema, due to a mutation of the FOXC2 gene. Limited studies are available for this connection of two conditions at this point. In hereditary cases of LE and cleft palate, it is believed that an autosomal gene is responsible. There is only speculation for a pathogenetic (able to cause disease) mechanism for this condition in non-familial cases.
Hennekam Lymphangiecstasia Syndrome includes intestinal or pleural lymphangiecstasia, along with hypoproteinemia, hypogammaglobulinemia, lymphocytopenia. (underdevelopment of the above traits) Physical traits may include facial anomalies, such as a flat face, flat nasal bridge, hypertelorism (small distance between 2 structures or features), eipcanthal (chromosomal defect) folds, a small mouth, tooth anomalies and ear defects. Complications include severe cellulites and erysipelas (skin infection). Cause is believed to be malformation of lymphatic channels. Management of LE is indicated; there are no specific treatments for this syndrome.
Jeken's Syndrome begins with onset of lymphedema during infancy and includes mental retardation, abnormal fat distribution at buttocks, and ataxia (inability to coordinate muscular movements).
Klinefelter Syndrome is also known as XXY Male Syndrome. Condition includes enlarged breasts in men, sparse facial and body hair and the inability to produce sperm. Males with this condition have an extra X chromosome. This is associated with a karyotype (organized profile of a person's chromosomes) 47YYX and occurs in about every 500 male newborns. This condition is NOT always related to lymphedema, but occasionally presents with a lymphatic blockage, or fetal hydrops (fetal edema with effusions - accumulation of fluid). Interestingly, these males have a 20 times greater risk of developing breast cancer than the general male population. Treatment includes hormone therapy, physiological counseling and lymphedema therapy, if lymphedema presents as a complication of this syndrome. IF you have primary or secondary lymphedema, just reading about some of these associated conditions may help you to put your condition in perspective. Everyone is entitled to a few days of "poor me", "why me", but if you are alive and have a positive attitude, it is easy to get over the lumps and bumps of life's roads if we remember that there is always someone who has it worse than we do and that the only person who can truly make a difference in your life and how you live it is YOU! Think positive thoughts and get out there and do something! Want suggestions or help getting started? Feel free to contact me.
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