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Disease Profile
Pachydermoperiostosis
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
Childhood
ICD-10
M89.4
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)
Primary hypertrophic osteoarthropathy; Idiopathic hypertrophic osteoarthropathy; PDP;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases
Summary
Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain.[1][2] Other features may include congenital heart disease and delayed closure of fontanelles.[2] This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both
Symptoms
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 | ||
Abnormal cortical bone morphology | 0003103 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Bone pain | 0002653 | |
Osteomyelitis |
Bone infection
|
0002754 |
Seborrheic dermatitis | 0001051 | |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Abnormal hair quantity | 0011362 | |
Acne | 0001061 | |
Arthralgia |
Joint pain
|
0002829 |
Joint inflammation
|
0001369 | |
Clubbing of toes | 0100760 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Cutis gyrata of scalp |
Furrows in thickened skin on top of scalp
Thickened folds on top of scalp
[ more ] |
0010541 |
Joint swelling | 0001386 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Osteolysis |
Breakdown of bone
|
0002797 |
Drooping upper eyelid
|
0000508 | |
5%-29% of people have these symptoms | ||
Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
Abnormality of bone marrow |
0005561 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Cerebral palsy | 0100021 | |
Eczematoid dermatitis | 0000976 | |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
Growth |
0000845 | |
Enlarged male breast
|
0000771 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Impaired temperature sensation |
Abnormality of temperature sensation
Loss of temperature sensation
[ more ] |
0010829 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Lung tumor
|
0100526 | |
Neoplasm of the skin |
Skin tumors
Tumor of the skin
[ more ] |
0008069 |
0000939 | ||
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Peptic ulcer |
Sore in the lining of gastrointestinal tract
|
0004398 |
0002650 | ||
Small hand |
Disproportionately small hands
|
0200055 |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Arthropathy |
Disease of the joints
|
0003040 |
0000006 | ||
0000007 | ||
Clubbing |
Clubbing of fingers and toes
|
0001217 |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] |
0100759 |
Symptoms present at birth
|
0003577 | |
Disproportionate tall stature | 0001519 | |
Erythema | 0010783 | |
Flushing | 0031284 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Long clavicles |
Long collarbone
|
0000890 |
Osteolytic defects of the phalanges of the hand |
Breakdown of small bones of fingers
|
0009771 |
Osteopenia | 0000938 | |
Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
Patent ductus arteriosus | 0001643 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Periosteal thickening of long tubular bones | 0006465 | |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
Thickened skin |
Thick skin
|
0001072 |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
Diagnosis
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.
Treatment
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 diagnoses include cranio-osteoarthropathy (see this term), secondary hypertrophic osteoarthropathy, chronic recurrent multifocal osteomyelitis, SAPHO and Camurati-Engelman disease (see these terms), thyroid acropachy and syphilitic periostosis.
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
-
Arthritis Foundation
1355 Peachtree St. NE
6th Floor
Atlanta, GA 30309
Toll-free: 1-844-571-HELP (4357)
Telephone: +1-404-872-7100
Website: https://www.arthritis.org
Organizations Providing General Support
-
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.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
- 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
- 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.
Pachydermoperiostosis, autosomal recessive
Pachydermoperiostosis, autosomal dominant - 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 Pachydermoperiostosis. Click on the link to view a sample search on this topic.
References
- Lindor NM. Pachydermoperiostosis. National Organization for Rare Disorders (NORD). 2008; https://rarediseases.org/rare-diseases/pachydermoperiostosis/.
- Girschick H. Pachydermoperiostosis. Orphanet. January 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796.
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