Living with Primary non-essential cutis verticis gyrata
A rare genetic condition with slowly thickening scalp skin that forms ridges and furrows, along with eye or nervous system differences.
Understanding Primary non-essential cutis verticis gyrata
The folds are symmetrical, look like the folds of the brain, and cannot be flattened by pulling or pressing. This is linked to eye differences, such as cataracts present from birth, and nervous system differences such as intellectual disability, seizures, small head size or brain disease (encephalopathy). It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick scalp skin with ridges and furrows
- Cataracts present from birth
- Developmental delay
- Intellectual disability
- Seizures
- Changes in the forehead shape
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, 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); 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
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
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 Primary non-essential cutis verticis gyrata.
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