Living with Griscelli syndrome
An inherited condition with light skin and silvery-gray hair from infancy, with three types that can also affect the brain or immune system.
Understanding Griscelli syndrome
There are three types, based on genetic cause and symptoms. Type 1 involves severe brain problems along with the skin and hair color. Type 2 involves immune system problems, including an immune condition called hemophagocytic lymphohistiocytosis (HLH) that can damage organs. Type 3 has only the light skin and hair. It usually begins in infancy or childhood.
Signs & symptoms
Symptoms vary by type. GARD lists these among the most common:
- Light skin patches
- Silver-gray or white hair
- Weakened immune system and low blood cell counts
- Swollen lymph nodes
- Reduced reflexes
- Developmental delay, seizures, and low muscle tone in type 1
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 brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); 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 Children's Skin Disease Foundation
- 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
Changes in genes cause this condition, and the type depends on the gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: chediak-higashi-like syndrome; chédiak-higashi-like syndrome; griscelli syndrome with immunodeficiency; griscelli-pruniéras syndrome; hypopigmentation-immunodeficiency disease; partial albinism with immunodeficiency
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Griscelli syndrome.
Explore research for Griscelli syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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