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Progressive Osseous Heteroplasia

POH


Presentation

  • We present an unusual presentation of POH in a 7-year-old female child. The clinical features included a painful swelling on the left foot, with mechanical complaints. There was no congenital hallux valgus.[ncbi.nlm.nih.gov]
  • Presenting problem: We present an unusual presentation of POH in a 7-year-old female child. The clinical features included a painful swelling on the left heel, with mechanical complaints. There was no congenital hallux valgus.[bone-abstracts.org]
Soft Tissue Mass
  • He developed soft tissue masses in the right heel and right elbow that were calcified or ossified on plain radiographs. MR imaging raised a suspicion of heterotopic ossification; thus, GNAS1 was analyzed.[ncbi.nlm.nih.gov]
  • Soft tissue masses. [online publication]. Reston (VA): American College of Radiology (ACR);. 2005. 6 p: Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva.[emedicine.medscape.com]
  • Hornicek and Mark Gebhardt, Non-neoplastic Soft Tissue Masses That Mimic Sarcoma, Orthopedic Clinics of North America, 45, 2, (245), (2014). Dirk E. Schrander, Tim J. Welting, Marjolein M.J. Caron, Jaap J.P.[doi.org]
Pathologist
  • We describe the complex histopathologic patterns present in this case, discuss the main differential diagnoses that the surgical pathologist must consider when confronted by soft tissue ossification, and review the pertinent literature.[ncbi.nlm.nih.gov]
Intravenous Administration
  • administration of pamidronate. ( 16532474 ) Hou J.W. 2006 23 Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. ( 14723729 ) Chan I....Child F.J. 2004 24 Progressive osseous heteroplasia in the face of a child. ( 12605446[malacards.org]
  • Progressive osseous heteroplasia controlled by intravenous administration of pamidronate. Am J Med Genet A 2006;140:910–3. Google Scholar 21. Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ.[degruyter.com]
Knee Pain
  • Jwalant Modi MS - Orthopaedics, MBBS Orthopedist - Specializes in Treatment of Progressive Osseous Heteroplasia modi hospital near samarpan tower kk nagar road prabhat chowk Ghaltodia, Ahmedabad Recently consulted for: Knee Pain, Knee Pain Treatment Book[lybrate.com]
  • Case 3: A 9-year-old boy with knee pain and subcutaneous ossifications in back and upper/lower extremity, causing significantly limited joint mobility. Lab tests were normal.[ncbi.nlm.nih.gov]
  • Case 3: A 9-year-old boy with knee Pain and Subcutaneous ossifications in back and upper/lower extremity, causing significantly limited joint mobility [19] .[gulfdoctor.net]
Stiffness of the Lower Limbs
  • In April 2001, a 52-yr-old woman, with no familial history of abnormal ossification, was admitted for pain and stiffness of the lower limbs.[academic.oup.com]
Ankle Pain
  • She first experienced symptoms in 1985, with knee, calf and ankle pains, and later suffered from lower limb stiffness.[academic.oup.com]
Skin Lesion
  • She is of small stature (0.4th centile) and started to develop skin lesions at the age of 9 months. These have been confirmed histologically as osteoma cutis. She is of normal intelligence and development and has no dysmorphic features.[ncbi.nlm.nih.gov]
  • Biopsies of the skin lesions demonstrated osteoma cutis consistent with POH [48] .[gulfdoctor.net]
  • lesions: Case reports and review, Pediatric Dermatology, 36, 3, (355-359), (2019).[doi.org]
Subcutaneous Nodule
  • Her father and father's aunt had subcutaneous nodules. At the age of 5 years, physical examination of the patient revealed ossified subcutaneous nodules and plaques on both upper limbs, the right side was predominantly affected.[ncbi.nlm.nih.gov]
Subcutaneous Mass
  • Case 1: A 4-year-old boy with obesity, speech delay, and expanding subcutaneous masses on buttock/forearm. Physical exam revealed round facies and brachydactyly.[ncbi.nlm.nih.gov]
  • Case 1: A 4-year-old boy with obesity, speech delay, and expanding subcutaneous masses on buttock/forearm [18] .[gulfdoctor.net]
Ulcer
  • (cutaneous) ossification, which progresses to involvement of subcutaneous and deep tissues, including muscle. [1] [2] In some cases, it first becomes apparent later in childhood or in early adulthood. [1] Ossification may cause pain and open sores (ulcers[rarediseases.info.nih.gov]
  • The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility.[ghr.nlm.nih.gov]
Calcinosis Cutis
  • Biopsy results from the lesions showed calcinosis cutis superficially, with both endochondral and intramembranous bone formation in the deeper tissues.[ncbi.nlm.nih.gov]
Round Face
  • PE at age 4 months included: length and weight 95%, a round face, short 4th metacarpals, and extensive subcutaneous ossifications of the lower limbs, buttocks, and back.[ncbi.nlm.nih.gov]
  • face, brachydactaly, neurobehavioral abnormalities.[slideplayer.com]
  • […] contractural arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round[se-atlas.de]
Suggestibility
  • Occasional reports of mild heterotopic ossification in Albright's hereditary osteodystrophy (AHO) and a recent report of two patients with AHO who had atypically extensive heterotopic ossification suggested a common genetic basis for the two disorders[ncbi.nlm.nih.gov]
Irritability
  • Subcutaneous ossifications that are superficial and well circumscribed may be surgically removed when they are large or cause local irritation, although they may recur [2] .[gulfdoctor.net]

Treatment

  • Jwalant Modi MS - Orthopaedics, MBBS Orthopedist - Specializes in Treatment of Progressive Osseous Heteroplasia modi hospital near samarpan tower kk nagar road prabhat chowk Ghaltodia, Ahmedabad Recently consulted for: Knee Pain, Knee Pain Treatment Book[lybrate.com]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Treatment: Currently, there are no effective treatments or prevention for POH.[iofbonehealth.org]
  • We hope to inform pediatricians and orthopedic surgeons to create more awareness of this disorder so that unnecessary treatments can be avoided and proper counseling offered.[ncbi.nlm.nih.gov]

Prognosis

  • The patient was advised physiotherapy to maintain range of motion and the parents were counseled regarding the prognosis of the disease.[ijoonline.com]
  • The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.[dovepress.com]
  • Few data exist about prognosis. Treatment: Currently, there are no effective treatments or prevention for POH.[iofbonehealth.org]
  • Progressive osseous heteroplasia in a 7-year-old girl with osteoma cutis and autoimmune thyroiditis: the importance of investigating GNAS mutations. ( 25752801 ) Mariani M....Rossodivita A. 2015 7 Progressive osseous heteroplasia: diagnosis, treatment, and prognosis[malacards.org]
  • Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. Appl Clin Genet. 2015 Jan 30;8:37-48. doi: 10.2147/TACG.S51064. eCollection 2015. Review. Plagge A, Kelsey G, Germain-Lee EL.[ghr.nlm.nih.gov]

Etiology

  • ETIOLOGY/EPIDEMIOLOGY: The disorder may be sporadic or familial. Offspring of affected individuals inherit the disease in an autosomal dominant manner with widely variable expression. Males and females are affected equally.[ifopa.org]
  • 多発性嚢胞腎 Polycystic Kidney disease, unknown genetic etiology 多発性嚢胞腎、遺伝子型不明 1 不要 有 HPS1264 HPS1265 HPS1266 HPS1267 HPS1268 HPS1269 Polycystic Kidney disease (ADPKD) 常染色体優性多発性嚢胞腎 1 不要 有 HPS2192 HPS2193 HPS2194 HPS2195 HPS2196 HPS2197 2 不要 有 HPS2636 HPS2637[cell.brc.riken.jp]

Epidemiology

  • ETIOLOGY/EPIDEMIOLOGY: The disorder may be sporadic or familial. Offspring of affected individuals inherit the disease in an autosomal dominant manner with widely variable expression. Males and females are affected equally.[ifopa.org]
  • Epidemiology FOP is very rare with a worldwide prevalence of approximately 1 case in 2 million individuals. No ethnic, racial, or geographic predisposition has been described [ 2 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • […] in humans, to the discovery of progressive osseous heteroplasia (another disorder of heterotopic ossification) and its causative gene and pathophysiology.[med.upenn.edu]
  • Michael Zasloff, provided the stimulus for his long-held interest in probing the molecular pathophysiology of skeletal disorders.[joshuasfop.com]
  • The investigation of relevant cells and microenvironmental factors is necessary to elucidate the complex pathophysiology of FOP.[ojrd.biomedcentral.com]

Prevention

  • Treatment: Currently, there are no effective treatments or prevention for POH.[iofbonehealth.org]
  • TREATMENT: Standard Therapies: No effective treatments or preventions exist for POH. Areas of well-circumscribed heterotopic ossification may rarely be removed successfully; surgical removal of POH tissue has led to recurrence in most patients.[ifopa.org]
  • The protein produced from the GNAS gene is believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside the skeleton.[ghr.nlm.nih.gov]
  • Prevention In patients at high risk for the development of heterotopic bone formation, there are several treatments that have been used to prevent the development of excess bone.[verywell.com]
  • Banovac K, Williams JM, Patrick LD, Haniff YM (2001) Prevention of heterotopic ossification after spinal cord injury with indomethacin. Spinal Cord 39: 370–374 PubMed CrossRef Google Scholar 2.[link.springer.com]

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