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Disease Profile
Pachyonychia congenita
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
All ages
ICD-10
Q84.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Congenital pachyonychia; Pachyonychia congenita syndrome
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Pachyonychia congenita (PC) is a rare
Symptoms
- Thickened nails
- Plantar hyperkeratosis (thickened skin on the soles of the feet) with underlying blisters
- Plantar pain
- Various types of cysts (i.e. steatocystoma and pilosebaceous cysts two types of sebaceous gland cysts)
- Follicular hyperkeratosis (small bumps at the base of hairs)
- Leukokeratosis (white patches on the tongue, in the mouth, or on the inside of the cheek)
Some affected people may also develop calluses on the palms of the hands (palmar hyperkeratosis), sores at the corner of the mouth; natal teeth; a hoarse cry or voice caused by white film on the larynx (voice box); and/or intense pain when beginning to eat or swallow.[3][2]
For more specific information on the signs and symptoms of PC, including specific features that are not associated with the condition, please visit the Pachyonychia Congenita Project's website.
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Hyperplastic callus formation | 0030268 | |
Lower limb pain |
Leg pain
|
0012514 |
Onychogryposis of toenails |
Overgrowth and curving of toenails
|
0008401 |
Palmoplantar blistering | 0007446 | |
30%-79% of people have these symptoms | ||
Fingernail dysplasia |
Abnormal fingernail development
|
0100798 |
Follicular hyperkeratosis | 0007502 | |
Linear arrays of macular hyperkeratoses in flexural areas | 0007490 | |
Onychogryposis of fingernail |
Overgrowth and curving of fingernail
|
0040036 |
Palmar hyperkeratosis | 0010765 | |
Palmoplantar hyperhidrosis |
Excessive sweating of palms and soles
|
0007410 |
5%-29% of people have these symptoms | ||
Ear pain |
Pain in the ear
|
0030766 |
Eruptive vellus hair cyst | 0025248 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
Paronychia | 0001818 | |
1%-4% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Angular cheilitis |
Inflammation of corners of the mouth
Red and sore corners of the mouth
[ more ] |
0030318 |
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Chapped lip |
Chapped lips
Dry lips
[ more ] |
0040181 |
Dry hair | 0011359 | |
Epidermoid cyst |
Skin cyst
|
0200040 |
Folliculitis | 0025084 | |
Furrowed tongue |
Grooved tongue
|
0000221 |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ] |
0000230 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Onychogryposis |
Thick nail
Thickened nails
[ more ] |
0001805 |
Oral leukoplakia |
Oral white patch
|
0002745 |
Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Plantar hyperkeratosis | 0007556 | |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Steatocystoma multiplex | 0012035 | |
Subungual hyperkeratosis |
Thickened, discolored skin under nail
|
0008392 |
Cause
PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17.[3]
Diagnosis
Identification of a change (
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
Pachyonychia Congenita Project offers more detailed information regarding the treatment and management of PC. Please click on the link to access this resource.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes variants of PC (steatocystoma multiplex, which develops at puberty with little or no nail dystrophy, and focal non-epidermolytic palmoplantar keratoderma; see these terms) and disorders manifesting with dystrophic nails such as epidermolysis bullosa, Clouston syndrome (distinguished by the presence of alopecia), and acquired disorders such as psoriasis and lichen planus (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
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
-
Pachyonychia Congenita Project (PC Project)
P.O. Box 17850
Holladay, UT 84117-0850
Telephone: 801-987-8758
E-mail: info@pachyonychia.org
Website: https://www.pachyonychia.org/
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.
- MedlinePlus Genetics contains information on Pachyonychia congenita. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- 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.
Pachyonychia congenita 1
Pachyonychia congenita 2
Pachyonychia congenita 3
Pachyonychia congenita 4 - 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 Pachyonychia congenita. Click on the link to view a sample search on this topic.
References
- Pachyonychia congenita. Genetics Home Reference. August 2012; https://ghr.nlm.nih.gov/condition/pachyonychia-congenita.
- Frances JD Smith, PhD, C David Hansen, MD, Peter R Hull, MD, PhD, FRCPC, Roger L Kaspar, PhD, Mary E Schwartz, LLD, WH Irwin McLean, DSc, FRSE, Leonard M Milstone, MD, Maurice van Steensel, MD, PhD, Edel O’Toole, MD, PhD, FRCPI, FRCP, and Eli Sprecher, MD, PhD. Pachyonychia Congenita. GeneReviews. July 2014; https://www.ncbi.nlm.nih.gov/books/NBK1280/.
- What is Pachyonychia Congenita?. Pachyonychia Congenita Project. https://www.pachyonychia.org/what-is-pc/. Accessed 12/10/2015.
- Newly Diagnosed With PC. Pachyonychia Congenita Project. https://www.pachyonychia.org/newly-diagnosed-with-pc/. Accessed 12/10/2015.
- Goldberg I1, Fruchter D, Meilick A, Schwartz ME, Sprecher E. Best treatment practices for pachyonychia congenita. J Eur Acad Dermatol Venereol. March 2014; 28(3):279-285. https://www.ncbi.nlm.nih.gov/pubmed/23363249.
- George SJ & Elston DM. Pachyonychia Congenita. Medscape Reference. March 2014; https://emedicine.medscape.com/article/1106169-overview#a4.
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