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Progressive Osseous Heteroplasia: A Rare Case Report.
Kananbala Sahu1, Arpita N Rout1, Liza Mohapatra1
1Department of Skin and V.D., S.C.B.M.C.H., Cuttack, Odisha, India.
Indian Dermatology Online Journal
|August 25, 2020
Summary
Progressive osseous heteroplasia (POH) is a rare genetic disorder causing abnormal bone growth in soft tissues. This case highlights early detection in a child with subcutaneous bone nodules, emphasizing the need for genetic counseling.
Area of Science:
- Genetics
- Developmental Biology
- Skeletal Biology
Background:
- Progressive osseous heteroplasia (POH) is a rare genetic disorder characterized by progressive extraskeletal bone formation.
- It typically manifests in early childhood with cutaneous ossification, affecting subcutaneous tissues, muscle, and fascia.
Observation:
- A case report of a 3-year-old child with POH presenting with multiple, nontender subcutaneous nodules.
- Radiological and histopathological examination confirmed intracutaneous bone formation.
Findings:
- The findings confirm the clinical presentation of POH with subcutaneous ossification in a pediatric patient.
- Histopathology revealed bone formation within the skin layers.
Implications:
- Early diagnosis of POH is crucial for genetic counseling and parental support.
- While no specific treatment exists, understanding POH aids in managing the condition and its progression.
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