Cutis verticis gyrata

Title

Categories:

Skin Diseases

Summary Summary

Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain.^[1]^[2] It occurs more commonly in males, and most commonly develops after puberty, but before age 30. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric disorders, eye abnormalities, or inflammatory conditions.^[1]^[2] While most isolated cases of unknown cause are sporadic, autosomal recessive and autosomal dominant inheritance with varying degrees of severity have been described. In cases associated with underlying conditions, the cause depends on the underlying condition. Management may include keeping areas within the folds clean, and/or surgery if requested for psychological or cosmetic reasons.^[1]

Last updated: 7/27/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Nevus	Very frequent (present in 80%-99% of cases)
Seizures	Very frequent (present in 80%-99% of cases)
Thickened skin	Very frequent (present in 80%-99% of cases)
Intellectual disability	Frequent (present in 30%-79% of cases)
Microcephaly	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the cerebellum	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the corpus callosum	Occasional (present in 5%-29% of cases)
Cataract	Occasional (present in 5%-29% of cases)
Cerebral cortical atrophy	Occasional (present in 5%-29% of cases)
EEG abnormality	Occasional (present in 5%-29% of cases)
Nystagmus	Occasional (present in 5%-29% of cases)
Strabismus	Occasional (present in 5%-29% of cases)

Last updated: 10/1/2017

Cause Cause

The underlying cause of cutis verticis gyrate (CVG) is not well understood. The condition may be divided into 3 forms, based on whether it is isolated or it's association with specific underlying conditions:^[1]

Primary essential - refers to cases in which no other abnormality is present. In this form the cause is not known. While most of these cases appear to be sporadic, autosomal recessive and autosomal dominant inheritance have been described.
Primary nonessential - can be associated with intellectual disability, cerebral palsy, epilepsy (seizures), schizophrenia, cranial abnormalities (microcephaly), deafness, eye or vision abnormalities, or a combination of these. In this form, the cause may have an endocrinologic basis (caused by abnormalities of the endocrine system).
Secondary - associated with a wide variety of underlying diseases and treatments, which can be viewed here on Medscape's website. In these cases, the underlying cause depends on the associated disease or treatment.

Last updated: 7/27/2017

Statistics Statistics

The estimated prevalence of cutis verticis gyrata (with data from 1964) is up to 1 in 100,000 people in the general population. It has been estimated to occur in 0.5% (1 in 200) of people with intellectual disability in the United States.^[1]

Last updated: 7/27/2017

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cutis verticis gyrata. Click on the link to view a sample search on this topic.

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Has there been any research into the reasons why persons with brain injury, seizures, schizophrenia would have cutis verticis gyrata? Has there been any reports of cutis verticis gyrata associated with long-term use of carbamazepine in young men? See answer

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