Dysosteosclerosis – A Rare Sclerosing Bone Dysplasia

Volume 7 | Issue 3 | September-December 2021 | Page: 26-28 | Akanksha Parikh, Vikas Basa


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.

Address of Correspondence
Dr Akanksha Parikh
Consultant Paediatric & Adolescent Endocrinology, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.
E-mail: gandhi.akanksha@gmail.com


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


1. Kobayashi K, Goto Y, Kise H, Kanai H, Kodera K, Nishimura G et al. A case report of dysosteosclerosis observed from the prenatal period. Clin Pediatr Endocrinol 2010;19:57-62.
2. Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S et al. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet 2012 Nov 15;2:4904-9.
3. Noavar S, Behroozi S, Tatarcheh T, Parvini F, Foroutan M, Fahimi H. A novel homozygous frame-shift mutation in the SLC29A3 gene: A new case report and review of literature. BMC Med Gen 2019;20:147.
4. Boudin E, Van Hul W. Sclerosing bone dysplasias. Best Pract Res Clin Endocrinol Metab 2018;32:707-23.
5. Howaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C et al. Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. Bone 2019;120:495-503.
6. Elcioglu NH, Vellodi A, Hall CM. Dysosteosclerosis: A report of three new cases and evolution of the radiological findings. J Med Genet 2002;39:603-7.

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.

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