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]
[Error: Macro 'ref' doesn't exist] Clinical Findings Progressive osseous heteroplasia (POH) presents in early childhood with cutaneous ossifications. [moldiag.com]
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]
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. [scholars.northwestern.edu]
Entire Body System
- 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]
NHHO presents as a painful soft tissue mass, which can be easily confused with malignant lesions such as osteosarcoma and soft tissue sarcoma. [14] Diagnosis of this condition may be difficult and requires radiological or histological findings after genetic [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]
- 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]
Musculoskeletal
- Stiffness of the Lower Limbs
She first experienced symptoms in 1985, with knee, calf and ankle pains, and later suffered from lower limb stiffness. [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
- 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]
- 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]
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]
Treatment: Currently, there are no effective treatments or prevention for POH. [iofbonehealth.org]
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]
Prognosis
The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed. [dovepress.com]
The patient was advised physiotherapy to maintain range of motion and the parents were counseled regarding the prognosis of the disease. [ijoonline.com]
Few data exist about prognosis. Treatment: Currently, there are no effective treatments or prevention for POH. [iofbonehealth.org]
Prognosis - Progressive osseous heteroplasia Not supplied. Treatment - Progressive osseous heteroplasia Not supplied. Resources - Progressive osseous heteroplasia Not supplied. [checkorphan.org]
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]
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]
Prevention - Progressive osseous heteroplasia Not supplied. Diagnosis - Progressive osseous heteroplasia signs and symptoms of Progressive Osseous Heteroplasia may vary on an individual basis for each patient. [checkorphan.org]
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]
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]