Hypotrichosis–lymphedema–telangiectasia syndrome
Alternate Names[edit | edit source]
Hypotrichosis lymphedema telangiectasia syndrome; HLTS; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Definition[edit | edit source]
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands.
Cause[edit | edit source]
HLTS is thought to be caused by changes (mutations) in the SOX18 gene.
Inheritance[edit | edit source]
It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family.
Symptoms[edit | edit source]
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
- Abnormality of the lymphatic system
- Absent eyebrow (Failure of development of eyebrows)
- Absent eyelashes(Failure of development of eyelashes)
- Alopecia(Hair loss)
- Palmar telangiectasia
- Plantar telangiectasia
- Predominantly lower limb lymphedema
- Sparse body hair
- Sparse scalp hair(Reduced/lack of hair on scalp)
30%-79% of people have these symptoms
- Cutis marmorata
- Hydrocele testis
- Palpebral edema(Fullness of eyelids)
5%-29% of people have these symptoms
- Ascites(Accumulation of fluid in the abdomen)
- Dermal atrophy(Skin degeneration)
- Hydrops fetalis
- Pleural effusion
- Fluid around lungs
Treatment[edit | edit source]
There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
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NIH genetic and rare disease info[edit source]
Hypotrichosis–lymphedema–telangiectasia syndrome is a rare disease.
| Hypotrichosis–lymphedema–telangiectasia syndrome Resources | |
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