Lymphedema–distichiasis syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Lymphedema–distichiasis syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Lymphedema–distichiasis syndrome is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]], [[Ophthalmology]] | |||
| symptoms = [[Lymphedema]], [[Distichiasis]] | |||
| onset = [[Puberty]] | |||
| duration = | |||
| types = | |||
| causes = Mutations in the [[FOXC2]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Compression therapy]], [[Surgical removal]] of extra eyelashes | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
==''' Alternate names ''' == | ==''' Alternate names ''' == | ||
Lymphedema with distichiasis; Hereditary lymphedema-distichiasis syndrome (subtype) | Lymphedema with distichiasis; Hereditary lymphedema-distichiasis syndrome (subtype) | ||
== '''Definition''' == | == '''Definition''' == | ||
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the [[lymphatic system]] (part of the immune system that produces and transports fluids and immune cells throughout the body). | Lymphedema-distichiasis syndrome is a condition that affects the normal function of the [[lymphatic system]] (part of the immune system that produces and transports fluids and immune cells throughout the body). | ||
== '''Summary''' == | == '''Summary''' == | ||
The age of onset of [[lymphedema]] varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties. | The age of onset of [[lymphedema]] varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only. | The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only. | ||
== '''Cause''' == | == '''Cause''' == | ||
Lymphedema-distichiasis syndrome is caused by mutations in the '''FOXC2 gene'''. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of [[DNA]] and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels). | Lymphedema-distichiasis syndrome is caused by mutations in the '''FOXC2 gene'''. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of [[DNA]] and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels). | ||
== '''Inheritance''' == | |||
This condition is inherited in an [[autosomal dominant]] pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | This condition is inherited in an [[autosomal dominant]] pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
People with lymphedema-distichiasis syndrome develop puffiness or swelling ([[lymphedema]]) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes ([[distichiasis]]), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. | People with lymphedema-distichiasis syndrome develop puffiness or swelling ([[lymphedema]]) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes ([[distichiasis]]), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. | ||
These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye ([[cornea]]). Related eye problems can include an irregular curvature of the cornea causing blurred vision ([[astigmatism]]) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted ([[varicose veins]]), droopy eyelids ([[ptosis]]), heart abnormalities, and an opening in the roof of the mouth (a cleft palate). | These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye ([[cornea]]). Related eye problems can include an irregular curvature of the cornea causing blurred vision ([[astigmatism]]) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted ([[varicose veins]]), droopy eyelids ([[ptosis]]), heart abnormalities, and an opening in the roof of the mouth (a cleft palate). | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
* Conjunctivitis(Pink eye) | * Conjunctivitis(Pink eye) | ||
| Line 30: | Line 45: | ||
* Photophobia(Extreme sensitivity of the eyes to light) | * Photophobia(Extreme sensitivity of the eyes to light) | ||
* Predominantly lower limb [[lymphedema]] | * Predominantly lower limb [[lymphedema]] | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Cataract(Clouding of the lens of the eye) | * Cataract(Clouding of the lens of the eye) | ||
| Line 37: | Line 51: | ||
* Ptosis(Drooping upper eyelid) | * Ptosis(Drooping upper eyelid) | ||
* [[Varicose veins]] | * [[Varicose veins]] | ||
5%-29% of people have these symptoms | 5%-29% of people have these symptoms | ||
* Abnormality of the pulmonary vasculature(Abnormality of the lung blood vessels) | * Abnormality of the pulmonary vasculature(Abnormality of the lung blood vessels) | ||
| Line 54: | Line 67: | ||
* Tubulointerstitial [[nephritis]] | * Tubulointerstitial [[nephritis]] | ||
* Webbed neck(Neck webbing) | * Webbed neck(Neck webbing) | ||
1%-4% of people have these symptoms | 1%-4% of people have these symptoms | ||
* Yellow nails | * Yellow nails | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
Currently, the most accurate test to determine if an individual is affected by lymphedema-distichiasis syndrome is done via '''Sanger sequencing''', which includes whole genome analysis and single gene and multigene testing. Sequenced DNA that exhibits mutations in the FOXC2 gene are considered confirmed clinical diagnoses. In addition to Sanger sequencing, Multiplex Ligation Probe Amplification (MLPA) can be used to determine if duplications and deletions in FOXC2 are present in an individual, making it a practical testing mechanism. Lastly, diagnosis is sometimes determined without genome testing. If an individual exhibits multiple symptoms of lymphedema-distichiasis and has a medical history consistent with known lymphedema-distichiasis symptoms, then their diagnosis is confirmed via clinical evaluation. | Currently, the most accurate test to determine if an individual is affected by lymphedema-distichiasis syndrome is done via '''Sanger sequencing''', which includes whole genome analysis and single gene and multigene testing. Sequenced DNA that exhibits mutations in the FOXC2 gene are considered confirmed clinical diagnoses. In addition to Sanger sequencing, Multiplex Ligation Probe Amplification (MLPA) can be used to determine if duplications and deletions in FOXC2 are present in an individual, making it a practical testing mechanism. Lastly, diagnosis is sometimes determined without genome testing. If an individual exhibits multiple symptoms of lymphedema-distichiasis and has a medical history consistent with known lymphedema-distichiasis symptoms, then their diagnosis is confirmed via clinical evaluation. | ||
== '''Treatment''' == | == '''Treatment''' == | ||
Treatment is directed at the specific symptoms present in each case. This may include complete [[decongestive therapy]], a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, [[cryotherapy]], or [[electrolysis]]. | Treatment is directed at the specific symptoms present in each case. This may include complete [[decongestive therapy]], a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, [[cryotherapy]], or [[electrolysis]]. | ||
{{Transcription factor/coregulator deficiencies}} | {{Transcription factor/coregulator deficiencies}} | ||
{{DEFAULTSORT:Lymphedema-Distichiasis Syndrome}} | {{DEFAULTSORT:Lymphedema-Distichiasis Syndrome}} | ||
[[Category:Vascular-related cutaneous conditions]] | [[Category:Vascular-related cutaneous conditions]] | ||
Revision as of 04:37, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Lymphedema–distichiasis syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics, Ophthalmology |
| Symptoms | Lymphedema, Distichiasis |
| Complications | N/A |
| Onset | Puberty |
| Duration | |
| Types | |
| Causes | Mutations in the FOXC2 gene |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Compression therapy, Surgical removal of extra eyelashes |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Alternate names
Lymphedema with distichiasis; Hereditary lymphedema-distichiasis syndrome (subtype)
Definition
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body).
Summary
The age of onset of lymphedema varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties.
Epidemiology
The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only.
Cause
Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels).
Inheritance
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Signs and symptoms
People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes (distichiasis), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted (varicose veins), droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate). For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Conjunctivitis(Pink eye)
- Corneal erosion(Damage to outer layer of the cornea of the eye)
- Distichiasis
- Photophobia(Extreme sensitivity of the eyes to light)
- Predominantly lower limb lymphedema
30%-79% of people have these symptoms
- Cataract(Clouding of the lens of the eye)
- Ectropion(Eyelid turned out)
- Muscle weakness(Muscular weakness)
- Ptosis(Drooping upper eyelid)
- Varicose veins
5%-29% of people have these symptoms
- Abnormality of the pulmonary vasculature(Abnormality of the lung blood vessels)
- Arrhythmia(Abnormal heart rate)
- Cleft palate(Cleft roof of mouth)
- Cleft upper lip(Harelip)
- Diabetes mellitus
- Fibrosarcoma
- Glomerulopathy
- Patent ductus arteriosus
- Proteinuria(High urine protein levels)
- Recurrent skin infections(Skin infections, recurrent)
- Recurrent urinary tract infections(Frequent urinary tract infections)
- Renal duplication(Extra kidney)
- Spinalarachnoid cyst
- Tubulointerstitial nephritis
- Webbed neck(Neck webbing)
1%-4% of people have these symptoms
- Yellow nails
Diagnosis
Currently, the most accurate test to determine if an individual is affected by lymphedema-distichiasis syndrome is done via Sanger sequencing, which includes whole genome analysis and single gene and multigene testing. Sequenced DNA that exhibits mutations in the FOXC2 gene are considered confirmed clinical diagnoses. In addition to Sanger sequencing, Multiplex Ligation Probe Amplification (MLPA) can be used to determine if duplications and deletions in FOXC2 are present in an individual, making it a practical testing mechanism. Lastly, diagnosis is sometimes determined without genome testing. If an individual exhibits multiple symptoms of lymphedema-distichiasis and has a medical history consistent with known lymphedema-distichiasis symptoms, then their diagnosis is confirmed via clinical evaluation.
Treatment
Treatment is directed at the specific symptoms present in each case. This may include complete decongestive therapy, a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, cryotherapy, or electrolysis.
| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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NIH genetic and rare disease info
Lymphedema–distichiasis syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Lymphedema–distichiasis syndrome
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