Living with Hypotrichosis-lymphedema-telangiectasia syndrome
A rare genetic condition with sparse hair, swelling from lymph fluid, and small red skin spots, often on the palms.
Understanding Hypotrichosis-lymphedema-telangiectasia syndrome
HLTS is linked with sparse hair (hypotrichosis), swelling (lymphedema), and small widened blood vessels in the skin (telangiectasia), especially on the palms. Symptoms usually begin at birth or in early childhood and become worse over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse scalp and body hair
- No eyebrows or eyelashes
- Swelling in the legs (lymphedema)
- Small red spots on the palms and soles (telangiectasia)
- Puffy eyelids
- Fluid collecting around the testicle (hydrocele)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SOX18 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
HLTS is thought to be caused by changes in the SOX18 gene. It can be inherited in an autosomal dominant or an autosomal recessive pattern, depending on the family.
Also known as: hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Hypotrichosis-lymphedema-telangiectasia syndrome.
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