Lymphedema–distichiasis syndrome is a medical condition associated with the

FOXC2 Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the ''FOXC2'' gene. FOXC2 is a member of the ...

gene. People with this hereditary condition have a double row of

eyelash An eyelash (also called lash) (Latin: ''Cilia'') is one of the hairs that grows at the edge of the eyelids. It grows in one layer on the edge of the upper and lower eyelids. Eyelashes protect the eye from debris, dust, and small particles and p ...

es, which is called ''

distichiasis A distichia is an eyelash that arises from an abnormal part of the eyelid. This abnormality, attributed to a genetic mutation, is known to affect dogs and humans. Distichiae usually exit from the duct of the meibomian gland at the eyelid margin. T ...

'', and a risk of swollen limbs due to problems in the lymphatic system.

Genetics

Lymphedema-distichiasis is inherited in an autosomal dominant fashion. It is estimated that only of diagnosed individuals did not inherit the condition but rather acquired the syndrome via a de novo mutation. Symptoms emerge between the life stages of puberty to early adulthood (around 30 years old). This is the result of a mutation in the

gene.

Mutations

p.Y41F, a missense mutation, is also located in FOXC2 AD-1. p.Y41F is one of eleven mutations found in the FOXC2 gene. It was determined that of these 11 mutations, one was nonsense, six were missense, and four were frameshift mutations.

Symptoms

The main symptoms of lymphedema-distichiasis are limb swelling and a double row of eyelashes. Symptoms that have been noted in some but not all cases include cysts, light sensitivity, cardiac defects, cleft palate, and eye problems such as astigmatism and cornea scarring.

Syndrome diagnosis and management

Currently, the most accurate test to determine if an individual is affected by lymphedema-distichiasis syndrome is done via

Sanger sequencing Sanger sequencing is a method of DNA sequencing that involves electrophoresis and is based on the random incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. After first being developed by Fred ...

, which includes whole genome analysis and single gene and multigene testing. Sequenced DNA that exhibits mutations in the

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

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. Lymphedema-distichiasis is a rare genetic disease, it is unknown how many individuals are affected and what the frequency of the condition is. As a result, there are few syndrome management techniques: Symptoms of distichiasis can be minimized via eyelash plucking, electrolysis and other various treatments. Limb swelling can be reduced using compression clothing and bandages. Lastly, rapid treatment of broken skin and

cellulitis Cellulitis is usually a bacterial infection involving the inner layers of the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a few days. The borders of ...

lessens severity of symptoms.

Notes

References

External links

GeneReview/NIH/UW entry on Lymphedema-Distichiasis Syndrome
{{DEFAULTSORT:Lymphedema-Distichiasis Syndrome Vascular-related cutaneous conditions Syndromes