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Cranio-Osteo-Arthropathy

COA


Presentation

  • The present cases demonstrate the phenotypic variability of the condition. The consanguinity in the present family and analysis of previously described cases support autosomal recessive inheritance for cranio-osteoarthropathy.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The clinical presentation in our patients was variable. Digital clubbing and hyperhidrosis were present in all cases. Delayed closure of the cranial sutures and fontanels, periostosis, and arthropathy were not consistent clinical features.[nature.com]
Swelling
  • Ultimately, joint swelling and stiffness follow, typically involving the large joints. We report two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease.[ncbi.nlm.nih.gov]
  • Symptoms - Cranio osteoarthropathy * Wide fontanel * Finger clubbing * Impaired joint mobility * Joint swelling * Stiff joints Causes - Cranio osteoarthropathy Not supplied. Prevention - Cranio osteoarthropathy Not supplied.[checkorphan.org]
  • […] witheffusion (knees, ankles).Imaging showed soft tissue swelling and periostealossification with cortical thickening, metaphyseal dia-physeal enlargement of long bones, with preservation ofarticular surfaces, and no acroosteolysis.[myslide.es]
  • Result A 2.3-year-old child presented with mild swelling of his distal phalanges at the age of 5 months that became pronounced gradually. His parents were consanguineous and his 14-year-old sister had albinism.[link.springer.com]
Feeding Difficulties
  • difficulties Short stature Intellectual disability, severe Sleep disturbance Generalized hypotonia Macrocephaly Rare Symptoms - Less than 30% cases Hypersomnia Congenital hypothyroidism Thyroid agenesis Anteverted nares Depressed nasal bridge Autosomal[mendelian.co]
  • Feeding difficulties and atopic eczema were noted since his fifth month of life. At the age of 10 months, muscular hypotonia, patent cranial sutures, and fontanels as well as clubbing of the distal phalanges were documented.[nature.com]
  • difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep[se-atlas.de]
Developmental Delay
  • Related symptoms: Global developmental delay Short stature Growth delay Muscular hypotonia Intellectual disability, severe SOURCES: ORPHANET UMLS More info about THYROID HYPOPLASIA Low match RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Resistance[mendelian.co]
  • Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep[se-atlas.de]
  • The affected propositus (patient V-1) was first seen at the age of 13 months for mild developmental delay and skeletal anomalies, such as widening of the cranial sutures and clubbing of the distal phalanges.[nature.com]
Fishing
  • This residue is highly conserved in all available 15-PGDH homologous sequences comprising mammals, Xenopus tropicalis, and bony fish ( Figure 3b ).[nature.com]
  • While looking at a disarticulated skull, Sutherland was struck by the idea that the cranial sutures of the temporal bones where they meet the parietal bones were "beveled, like the gills of a fish, indicating articular mobility for a respiratory mechanism[en.wikipedia.org]
Coarse Facial Features
  • The skin of the face, forehead and scalp becomes grossly thickened and thrown into folds (coarse facial features, one of the leonine facies). The folding of the scalp produces one of the forms of cutis verticis gyrata.[dvkeywords.blogspot.com]
  • Family history was irrelevant.MethodsOn examination, there was clubbing of fingers and toes,hypertrophy of soft tissue (coarse facial features andthickening of the facial skin, with prominent folds onthe forehead and cheek), cutaneous gland dysfunction[myslide.es]
  • facial features Common - Between 50% and 80% cases Constipation Common - Between 50% and 80% cases Muscular hypotonia Common - Between 50% and 80% cases Macroglossia Common - Between 50% and 80% cases Accelerate your rare disease diagnosis with us Learn[mendelian.co]
Clubbed Finger
  • Read More Clubbed fingers: radiological evaluation of the nail bed thickness. Clin Anat 2008 May;21(4):314-8 The Post-Graduation Program in Chest Medicine Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.[pubfacts.com]
  • Clubbed fingers: radiological evaluation of the nail bed thickness. Clin Anat. 2008 May. 21(4):314-8. [Medline]. Jajic I, Pecina M, Krstulovic B, Kovacevic D, Pavicic F, Spaventi S.[emedicine.medscape.com]
  • Key words: hypertrophic osteoarthropathy, pulmonary carcinoma, clubbed fingers.[sav.sk]
Cyanosis
  • A mild prominent nose, patent cranial sutures and anterior and posterior fontanel, clubbing of the digits without cyanosis, finger joint laxity, large nails, and mild knock-knee were noted.[ncbi.nlm.nih.gov]
  • […] gonococcus, streptococci col(o) colon colitis, colonoscopy, colotomy cortic(o) cortex corticosteroid, cortical, adrenocorticotropic cost(o) rib costal, intercostal, costectomy crani(o) skull, cranium craniometry, craniectomy, cranial cyan(o) blue, blueness cyanosis[takerx.com]
Hepatosplenomegaly
  • Apart from probably isolated digital clubbing, the index patient developed mild hepatosplenomegaly and subsequently a common variable immunodeficiency at the age of 2 years. Psychomotor development was normal.[nature.com]
  • We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, hypogonadotrophic hypogonadism, hyperprolactinemia, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid[pubfacts.com]
Eczema
  • Feeding difficulties and atopic eczema were noted since his fifth month of life. At the age of 10 months, muscular hypotonia, patent cranial sutures, and fontanels as well as clubbing of the distal phalanges were documented.[nature.com]
  • Patients And Methods : A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs.[pubfacts.com]
  • […] thickening of facial skin resulting in leonine faces) over the scalp, cutis verticis gyrata, and bilateral ptosis over the eyes resulting in blepharoptosis. [27] These changes yield a characteristic “bull-dog” appearance. [28] Other influences are acne, eczema[emedicine.medscape.com]
Eruptions
  • Clinical description COA presents in childhood with features of primary hypertrophic osteoarthropathy including digital clubbing and clinodactyly of the fingers, eczematous skin eruption, arthropathy and periosteal new bone formation as well as poor neurocranium[orpha.net]
  • Dermatoid Skin Resembles Dermatologist Skin One who studies Dermatolysis Skin Dissolution (destruction) Dermatome Skin Instrument (used to remove skin for grafting) Dermatomycosis Skin Fungus Condition of Dermatoneurosis Skinn Nerves Condition of (skin eruptions[studystack.com]
Erythema
  • Cieľom našej práce je rozšíriť tieto úvahy aj o ďalšie diagnózy multifaktoriálnej a nejasnej etiológie, ako sú erythema nodosum (EN), granuloma anulare (GA), erythema anulare (EA) a urticaria chronica.[sav.sk]
Arthralgia
  • Okten A, Mungan I, Kalyoncu M, Orbak Z (2007) Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia.[link.springer.com]
  • Arthralgias can be debilitating. There are reports of resolution of the arthralgias when treated with tamoxifen.[dvkeywords.blogspot.com]
  • […] earache, toothache aden(o) gland, glandular tissue adenitis, adenotomy, adenoids, adenocarcinoma aer(o) air, with air, with oxygen, in gas aerobic, aerate, aerosol, aerocele alg- pain algometry, algogenic, algesic -algia pain gastralgia, neuralgia, arthralgia[takerx.com]
  • Physical exercise, upper airway infections, and high humidity turned out to be triggers for exacerbation of the arthralgias. At the age 10 years, she complained about constant pain in her hands while writing.[nature.com]
Joint Swelling
  • Ultimately, joint swelling and stiffness follow, typically involving the large joints. We report two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease.[ncbi.nlm.nih.gov]
  • Symptoms - Cranio osteoarthropathy * Wide fontanel * Finger clubbing * Impaired joint mobility * Joint swelling * Stiff joints Causes - Cranio osteoarthropathy Not supplied. Prevention - Cranio osteoarthropathy Not supplied.[checkorphan.org]
  • A referral to Geneticswas made, and he is currently awaiting testing.ConclusionPHO is a rare cause of joint swelling and can be con-founded with other causes of polyarthritis.Careful physical examination will detect digital club-bing and raise the diagnostic[myslide.es]
  • After a few years, severe periodic arthralgia and joint swelling were present in patient 2 harboring a homozygous frameshift mutation, whereas patients carrying the homozygous missense mutation c.52G T did not have significant joint problems in childhood[nature.com]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
Large Fontanel
  • Overview A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.[checkorphan.org]
  • fontanelles Causes List for Large fontanelles List of possible causes of Large fontanelles or similar symptoms may include: 2 ALG1-CDG syndrome (Large fontanelles) Acrocephalosyndactyly type I (Large fontanelles) Acromelic frontonasal dysostosis (large[familydiagnosis.com]
  • Diseases related with Neoplasm and Large fontanelles In the following list you will find some of the most common rare diseases related to Neoplasm and Large fontanelles that can help you solving undiagnosed cases.[mendelian.co]
Average Intelligence
  • Her psychomotor development was normal with an above average intelligence (IQ 132 at the age of 6 years). At the age of 9 years and 9 months, height was 136 cm ( 1 SD), weight 27.6 kg ( 1 SD), and head circumference was 52 cm ( 0.5 SD).[nature.com]

Workup

  • Evaluate for the hypercoagulable state, but no anticoagulation is indi-cated for superficial thrombophlebitisKey Concept/Objective: To understand the timing of workup and duration of therapy for patientspresenting with a new DVT HEMATOLOGY A -year-old[lumiererestaurant.com]
  • Bone scanning(Tc-99m) revealed symmetrically increased uptake inthe tubular bones along the cortical margins of the dia-physis and metaphysis (parallel-track sign).ESR and CRP were mildly elevated, with normal endo-crine workup, full blood count and film[myslide.es]
  • Inspection may reveal localized nail abnormalities that should be treated, or may provide clues to an underlying systemic disease that requires further workup.[pubfacts.com]
Pelger-Huet Anomaly
  • Hoffmann K, Dreger CK, Olins AL et al : Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet 2002; 31 : 410–414. 13.[nature.com]

Treatment

  • Treatment - Cranio osteoarthropathy Not supplied. Resources - Cranio osteoarthropathy Not supplied.[checkorphan.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Further studies should clarify whether progression of PHO could be influenced by NSAID treatment.[nature.com]
  • Infl iximab treatment in pachydermoperiostosis. J Clin Rheumatol 2010;16(4):183-4. 19. George L, Sachithanandam K, Gupta A, Pulimood S. Frontal rhytidectomy as surgical treatment for pachydermoperiostosis. J Dermatolog Treat 2008;19(1):61-3. 20.[degruyter.com]

Prognosis

  • Diagnosis - Cranio osteoarthropathy Home medical testing related to Cranio osteoarthropathy: * Home Andropause Tests * Prostate Health : Home Testing: o Home Prostate Tests o Home PSA Antigen Tests o Home Testosterone Tests Prognosis - Cranio osteoarthropathy[checkorphan.org]
  • Life Expectancy As the progression of this condition cannot be kept under control and no treatment has been found, the prognosis is negative.[healthh.com]
  • When the symptomatology of HOA appears, radiograms usually pick up tumours at their early stages, which is important for the prognosis and the strategy of their treatment.[sav.sk]
  • Objective : To describe the clinical presentation, diagnosis, and prognosis of a cohort of Dutch patients with idiopathic pulmonary fibrosis (IPF), a serious and rapidly progressive lung disease belonging to the idiopathic interstitial pneumonias.[pubfacts.com]

Etiology

  • Etiology It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait; however, heterozygous carriers can have a mild phenotype.[orpha.net]
  • Vandemergel X, Blocklet D, Decaux G (2004) Periostitis and hypertrophic osteoarthropathy: etiologies and bone scan patterns in 115 cases. Eur J Intern Med 15:375–380. doi: 10.1016/j.ejim.2004.04.017 PubMed CrossRef Google Scholar 3.[link.springer.com]
  • Hip 627EtiologyThe etiology of hypotonic hip disease is opposite that of spastic hip disease. Usually, the videotape is 1 to 2 minuteslong and is seldom more than 3 minutes long.[lumiererestaurant.com]
  • Objectives: The role of B. burgdorferi in the etiology of sclerodermia circumscripta (SC) and lichen sclerosus et atrophicus (LSA) are is reported in numerous, however controversial studies.[sav.sk]

Epidemiology

  • Summary Epidemiology Prevalence is unknown. To date, about 30 cases have been reported.[orpha.net]
  • (PMID: 20086108) Poole EM … Ulrich CM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 22 45 60 Mutation in the HPGD gene[genecards.org]
  • […] nail clubbing Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • The draft problem could be solved by modern method including PCR with the use of several primers focused on different antigens regarding the certain epidemiologic regions. (Fig. 7, Ref. 17.)[sav.sk]
  • […] mutations in the SLCO2A1 gene in Chinese patients have also been reported. [47, 48] Genetic analysis of affected individuals and unaffected family members in Korea revealed a novel heterozygous mutation in the SLCO2A1 gene but no HPGD mutations. [49] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Primary hypertrophic osteoarthropathy has been linked to mutations in two genes, 15-hydroxyprostaglandin dehydrogenase ( HPDG ) and solute carrier organic anion transporter family, member 2A1 ( SLCO2A1 ).[emedicine.medscape.com]
  • Elevated levels of VEGF (vascular endothelial growth factor) in the serum of patients are suggested to play a pivotal role in the pathophysiology.[pubfacts.com]
  • This pathophysiological consideration is reflected also in the title of this study.[sav.sk]

Prevention

  • Prevention - Cranio osteoarthropathy Not supplied.[checkorphan.org]
  • Treatable - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary[codelay.com]
  • (PMID: 20086108) Poole EM … Ulrich CM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 22 45 60 Mutation in the HPGD gene[genecards.org]
  • Osteopaths have a holistic approach, treating the whole person in the prevention, diagnosis and treatment of illness, injury or disease.[medical-dictionary.thefreedictionary.com]
  • To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break.[medicbind.com]

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