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

Keratosis follicularis spinulosa decalvans


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Other Names:
KFSD; Keratosis follicularis spinulosa decalvans cum ophiasi
Categories:

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. KFSD is thought to be caused by mutations in the SAT1 gene and inherited in an X-linked manner.[1][2]
Last updated: 6/28/2011

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the nail 0001597
Blepharitis
Inflammation of eyelids
0000498
Conjunctivitis
Pink eye
0000509
Corneal dystrophy 0001131
Dry skin 0000958
Dystrophic fingernails
Poor fingernail formation
0008391
Ectropion
Eyelid turned out
0000656
Facial erythema
Blushed cheeks
Blushing
Red face
Red in the face
[ more ]
0001041
Follicular hyperkeratosis 0007502
Folliculitis 0025084
Keratitis
Corneal inflammation
0000491
Keratosis pilaris 0032152
Nail dysplasia
Atypical nail growth
0002164
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Perifollicular fibrosis 0030054
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
0000613
Scarring alopecia of scalp 0004552
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
0000653
X-linked inheritance 0001417
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


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

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Keratosis follicularis spinulosa decalvans. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.


  1. Ichythyosis, keratosis follicularis spinulosa decalvans. National Organization for Rare Disorders (NORD). 2004; Keratosis follicularis spinulosa decalvans.
  2. Keratosis follicularis spinulosa decalvans, X-linked; KFSDX. Online Mendelian Inheritance of Man (OMIM). March 8, 2011; http://www.ncbi.nlm.nih.gov/omim/308800.