Dysosteosclerosis – A Rare Sclerosing Bone Dysplasia
Volume 7 | Issue 3 | September-December 2021 | Page: 26-28 | Akanksha Parikh, Vikas Basa
DOI-10.13107/ijpo.2021.v07i03.119
Authors: Akanksha Parikh MD DNB Paediatrics [1], Vikas Basa DNB Ortho. [2]
[1] Department of Paediatrics, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.
[2] Department of Orthopaedics, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.
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Address of Correspondence
Dr Akanksha Parikh
Consultant Paediatric & Adolescent Endocrinology, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.
E-mail: gandhi.akanksha@gmail.com
Abstract
Dysosteosclerosis (DOS) is a rare inherited sclerosing bone disorder caused by lack of osteoclast differentiation. A nine-month-old infant presented with a past history of pathological fracture, developmental delay and facial dysmorphisms. The sclerotic radiographic changes along with histologically observed increased bone deposition on clavicular bone biopsy led to the initial suspicion of osteopetrosis. However, a genetic analysis revealed a mutation in the SLC29A3 gene confirming the diagnosis of DOS. Due to the close clinical and radiological resemblance most infants with DOS are misdiagnosed as osteopetrosis, a related skeletal dysplasia. The presence of purplish skin rash, platyspondyly on radiographs and absence of bone marrow involvement differentiates DOS from the latter. Treatment is supportive and overall prognosis is poor with the eventual neurological deterioration and recurrent fractures.
Keywords: Skeletal dysplasia, Osteopetrosis, Platyspondyly, SLC29A3
References
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| How to Cite this Article: Parikh A, Basa V| Dysosteosclerosis – A Rare Sclerosing Bone Dysplasia | International Journal of Paediatric Orthopaedics | September- December 2021; 7(3): 26-28. |
