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07:01
Direct Mouse Trauma/Burn Model of Heterotopic Ossification
Published on: August 6, 2015
Unilateral progressive osseous heteroplasia
Felicidade Santiago1, Ricardo Vieira, Margarida Cordeiro
1Dermatology Department, Hospitais da Universidade de Coimbra, Praceta Mota Pinto, 3000-075 Coimbra, Portugal. felicidadesantiago@hotmail.com
European Journal of Dermatology : EJD
|February 14, 2009
Summary
This study details a rare case of progressive osseous heteroplasia, presenting unilaterally with osteoma cutis. The findings suggest a mosaic distribution may underlie atypical presentations of this condition.
Area of Science:
- Dermatology
- Genetics
- Orthopedics
Background:
- Progressive osseous heteroplasia (POH) is a rare genetic disorder characterized by extraskeletal ossification.
- It typically follows an autosomal dominant inheritance pattern, often linked to GNAS gene mutations.
Observation:
- A 50-year-old male presented with unilateral, progressive, firm subcutaneous nodules and plaques with a gritty texture on the left trunk and limbs since childhood.
- Biopsies confirmed osteoma cutis, and genetic analysis revealed no GNAS gene mutation.
- The patient exhibited no phospho-calcium metabolism abnormalities.
Findings:
- The clinical presentation was consistent with progressive osseous heteroplasia.
- The unilateral manifestation and lack of GNAS mutation suggest an atypical form, possibly due to mosaicism.
- Osteoma cutis was the histopathological hallmark observed in the affected tissues.
Implications:
- This case expands the known clinical spectrum of progressive osseous heteroplasia.
- It highlights the importance of considering mosaicism in atypical or unilateral presentations of genetic disorders.
- Further research into the genetic underpinnings of mosaic POH may be warranted.
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