Hypotrichosis–lymphedema–telangiectasia syndrome

Hypotrichosis–lymphedema–telangiectasia syndrome
Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Sparse hair, lymphedema, telangiectasia
Complications
Onset
Duration
Types
Causes	Genetic mutation
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis
Prevention
Treatment	Symptomatic treatment
Medication
Prognosis
Frequency
Deaths

Alternate Names

Hypotrichosis lymphedema telangiectasia syndrome; HLTS; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Definition

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

HLTS is thought to be caused by changes (mutations) in the SOX18 gene.

Inheritance

It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family.

Symptoms

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

There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Hypotrichosis–lymphedema–telangiectasia syndrome

Hypotrichosis–lymphedema–telangiectasia syndrome is a rare disease.