|Title : Case 696|
Age / Sex : 54 / F
Chief complaint : Bilateral knee joint pain
Osteopathia striata with cranial sclerosis
Radiographically prominent vertical striations predominate in the metaphyses and epiphyses of the bilateral femur, bilateral tibia and bilateral fibula.
Marked sclerosis and thickening of calvarium, facial areas, and skull base
Osteopathia striata, also known as Voorhoeve disease, is a rare, benign sclerosing bone dysplasia, involving the epiphysis and metaphysis of tubular bones. Oseopathia striata can be found in any age group. It is typically asymptomatic, although there can be associated joint discomfort. There is an association with focal dermal hypoplasia (Goltz syndrome). Osteopathia striata is typically bilateral, although occasionally it can be unilateral, typically in tubular bones. Radiographically prominent vertical striations predominate in the metaphyses and epiphyses of the long bones (celery stalk metaphysis). Not infrequently there are shared features of melorheostosis and osteopoikilosis, in a so-called overlap syndrome termed mixed sclerosing bone dysplasia. These conditions may share an underlying etiology (loss of function mutations in the LEMD3 gene).
Osteopathia striata with cranial sclerosis (OS-CS)
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. 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, and anomalies of the extremities such as clubfoot
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. 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. There is no curative treatment for OS-CS. Management is generally multidisciplinary and aims to provide control of associated conditions and complications.
|Total applicants||34||Correct answers||22|
|윤유성||순천향대 부천병원, 전문의|
|김형민||연세의대 강남세브란스병원, 전문의|
|장민영||국민건강보험공단 일산병원, 전문의|
|Total applicants||34||Semi-Correct answers||3|