Rare Hematology News

Disease Profile

Pachydermoperiostosis

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 autosomal dominant and autosomal recessive inheritance has been reported.[1] Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.[2] Treatment is aimed at addressing the specific symptoms present in each individual and may include nonsteroidal anti-inflammatory medications for pain and swelling of joints, retinoid treatment of skin symptoms, and plastic surgery for facial involvement.[1][2]

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
Arthritis
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
Ptosis
Drooping upper eyelid
0000508
5%-29% of people have these symptoms
Abnormal hair pattern
Abnormal distribution of hair
0010720
Abnormality of bone marrow cell morphology
0005561
Anemia
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 hormone excess
0000845
Gynecomastia
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
Neoplasm of the lung
Lung tumor
0100526
Neoplasm of the skin
Skin tumors
Tumor of the skin

[ more ]

0008069
Osteoporosis
0000939
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Peptic ulcer
Sore in the lining of gastrointestinal tract
0004398
Scoliosis
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
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Clubbing
Clubbing of fingers and toes
0001217
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

0100759
Congenital onset
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

    Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual.[1] Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine.[1][2] A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling.[1] Skin-related symptoms may be treated with retinoids.[2] Plastic surgery may be performed to improve facial appearance in some individuals.[1] Surgery may also be performed to treat clubbing of fingers and/or toes.[2]

    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

      Organizations Providing General Support

        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

            1. Lindor NM. Pachydermoperiostosis. National Organization for Rare Disorders (NORD). 2008; https://rarediseases.org/rare-diseases/pachydermoperiostosis/.
            2. Girschick H. Pachydermoperiostosis. Orphanet. January 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796.

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