Klippel–Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis

Abstract

Osteopoikilosis is a rare, usually asymptomatic, autosomal dominant bone disorder, which is usually found incidentally on X-ray. Klippel-Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. In this case report, we describe a woman with osteopoikilosis associated with type 2 Klippel-Feil syndrome. Additionally, four female members of her family had osteopoikilosis. We state that possible syndromes that can go with osteopoikilosis must be kept in mind in case of an incidental diagnosis in daily practice.

Osteopoikilosis: an Incidental Finding in a Patient with Olecranon Fracture

“…Bone scan for whole body with Tc-99 m was normal in our patient. Several other rheumatologic diseases can coexist with OPK, such as rheumatoid arthritis, lupus erythematosus, reactive arthritis, ankylosing spondylitis and familial mediterranean fever [3,4,6], but these were absent in our patient. Various developmental abnormalities have been reported to be associated with osteopoikilosis, including: coarctation of the aorta, double ureter, pubertas praecox, urogenital defects, growth abnormalities, peptic ulcer, diabetes mellitus at the endodermal strata level, arthritis, exostoses, osteitis condensans ilii, Klippel-Feil syndrome, melorheostosis, spinal stenosis, cervical myelopathy, dacryocystitis, giant cell tumor, fbrous dysplasia, chondrosarcoma, osteosarcoma, synovial chondromatosis at the mesodermal level; facial abnormalities, hare lip, dental abnormalities, dermatofibrosis lenticularis disseminata, keloid formation, and plantar and palmar keratomas at the ectodermal level [7][8][9][10].…”

“…The patteren of inheritance is autosomal dominant, although sporadic cases do exist, as in our case (since no family member had the disease) [1][2][3]. The diagnosis is usually made incidentally after radiographric review is done for another reasons as in our case for elbow injury, assessing numerous small, well-defined, homogeneous, circular-to-ovoid foci of increased radio density clustered in periarticular osseus regions.…”

“…They are scattered within the cancellous bone and concentrated near the joint surface [2]. In 25% of the cases osteopoikilosis is associated with skin manifestations (dermatofibrosis lenticularis disseminata, keloid formation, plantar and palmar keratomas), rheumatic and skeletal disorders (arthritis,exostoses, osteitis condensans ilii, melorheostosis, spinal stenosis, chondrosarcoma, osteosarcoma), organ anomalies (aorta coarctation, double ureter, growth abnormalities, hare lip, dental abnormalities), and endocrine dysfunction (diabetes mellitus) [3] . Histologically, osteopoikilosis is defined as focal condensations of compact lamellar bone within the spongiosa and is related to other osteosclerotic disorders like osteopathia striata, fibrous dysplasia and melorheostosis.…”

Case report of Osteopoikilosis in patient with psoriatic arthritis

“…Osteopoikilosis has been reported to be associated with various skeletal and dermatologic disorders such as Klippel-Feil syndrome, 7 the Buschke-Ollendorff syndrome (BOS), 3 synovial chondromatosis and chondrosarcoma 8 raising a legitimate question about the necessity for a follow-up. 3 OPK has also been described in association with renal and heart malformations, and endocrine disorders.…”

Coexistence of osteopoikilosis with seronegative spondyloarthritis and spinal stenosis

“…As mentioned above, its course is usually asymptomatic. OPK has been reported to be associated with various developmental malformations such as coarctation of aorta, pubertas praecox, diabetes mellitus, dacryocystitis, chondrosarcoma, synovial chondromatosis, otosclerosis, syndactyly, and Klippel-Feil syndrome 8 , 9 , 11 , 12 , 13 , 14 ) . The number of reported cases of OPK coexisting with rheumatic diseases is increasing.…”