National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Nevus comedonicus syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 64754

Definition
A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Comedo 0025249
Hamartoma 0010566
5%-29% of people have these symptoms
Abnormal hair morphology
Abnormality of the hair
Hair abnormality
[ more ] 		0001595
Abnormal vertebral morphology 0003468
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Finger syndactyly 0006101
Ichthyosis 0008064
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Nevus flammeus
port-wine stain
0001052
Preaxial polydactyly 0100258
Scoliosis 0002650
Seizure 0001250
Spina bifida occulta 0003298
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Showing of 14 |
Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Nevus comedonicus syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Nevus comedonicus syndrome:
    The National Registry for Ichthyosis & Related Skin Disorders
     

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.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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