Living with FLOTCH syndrome
A rare genetic skin condition with white nails and repeated cysts under the skin of the scalp, sometimes with eyelash and nail changes.
Understanding FLOTCH syndrome
Some people also have eyelash problems and spoon-shaped nails (koilonychia). Kidney stones have also been reported. It begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- White nails and nail changes
- Repeated skin cysts
- Sparse or abnormal eyelashes
- Eyelid inflammation (blepharitis)
- Sensitivity to light (photophobia)
- Kidney stones
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 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
- 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 it. GARD doesn't name a gene or describe how it is inherited.
Also known as: friedel heid grosshans syndrome; leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome; leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome
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 FLOTCH syndrome.
Explore research for FLOTCH syndrome
Explore actively recruiting FLOTCH syndrome studies with HealthSpark.
Find actively recruiting studies for FLOTCH syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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