Osteopathia striata with cranial sclerosis

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Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder.

Epidemiology

OS-CS is extremely rare, with a prevalence of less than 0.1 in 1 million

Clinical presentation

OS-CS is a clinically heterogeneous condition, with the severity and the clinical presentation varying significantly between people, including individuals within the same family.

Features are generally present at birth and include skeletal abnormalities marked by linear striations in the metaphyses of long bones and the pelvis, in combination with cranial sclerosis.

Its associated pathologies range from mild skeletal changes to multisystem organ involvement, and include:

  • developmental delay
  • hearing loss
  • cranial nerve palsies due to narrowing of the nerve canals and foramina
  • cataracts
  • macrocephaly and facial dysmorphysms including frontal bossing and hypertelorism
  • cardiac defects including ventricular septal defect and aortic stenosis
  • anomalies of the extremities such as clubfoot

Pathology

Genetics

OS-CS is associated with mutations in the Wilms tumor gene on the X chromosome (WTX gene) and is inherited in an X-linked dominant manner, resulting in more severe disease and mortality in many affected males .

Associations

In rare cases, OS-CS has been reported in association with Robin sequence, Hirschsprung disease and laryngotracheomalacia.

Radiographic features

The radiological findings of cranial sclerosis, linear striations of the metaphyses of long bones and fan-like striations of the iliac crest are the hallmarks of OS-CS.

Treatment and prognosis

There is no curative treatment for OS-CS. Management is generally multidisciplinary and aims to provide control of associated conditions and complications.

Due to the large spectrum of associated features, the prognosis is dependent on the severity of the patient’s condition. As would be expected, those cases with severe manifestations and those associated with other pathologies such as Hirschprung disease or Robin sequence have a poor prognosis.