Description, Causes and Risk Factors:
Osteopathia striata is an asymptomatic disease, usually discovered accidentally during a radiological survey for other reasons. The striations consist of fine linear densities parallel to the axes of long bones. They are thickest in the former epiphyses and extend into the diaphyses where they gradually narrow and disappear. The cortex, shape, and density of the affected bones are normal. The region of the knee is most frequently involved. The striations have not been detected in the skull and clavicles, but have been described in the tarsal and carpal bones, and also in the pelvis. In the iliac wings a fan-shaped pattern has been observed, radiating from the sacroiliac joints. While striations are generally symmetrical, exceptions have been reported. The sex ratio of the disease differs from author to author, but there seems to be no predilection for females. No associated biochemical abnormalities have been reported. The aetiology is unknown. Some authors have suggested a dominant pattern of inheritance, but valid conclusions cannot be made due to the small number of cases which have been described.
Osteopathia striata may be seen in association with osteopoikilosis or melorheostosis, or both, in which case the condition is usually referred to as mixed sclerosing bone dystrophy.
Many bone islands as well as evidence of melorheostosis can be seen in radiograph. This rare pattern of "mixed sclerosing bone dystrophy" is generalized throughout the skeleton.
Osteopathia striata with cranial sclerosis is an X-linked disease caused by mutation in the gene encoding WTX that controls cell signaling affecting bone turn over. While the disease is almost always lethal in males, females exhibit cranial sclerosis, craniofacial dysmorphism and longitudinal sclerotic striations on the long bones.
The literature, concerning the association of osteopathia striata and other skeletal and dermatological abnormalities, until recently was confused. Reserchers distinguished three groups among the 45 cases they reviewed. The first group, the largest with 23 cases, included those with osteopathia striata combined with other forms of bony condensation. Thus osteopoikilosis was reported in 15 cases, partial osteopetrosis in three cases, melorheostosis in two cases, and cortical tubular sclerosis (progressive diaphyseal dysplasia) in three cases. Skin lesions were absent from this group except in two cases, who had lenticular fibromata. The second group consisted of 13 cases of uncomplicated osteopathia striata, in eight of which, as in the original report of Voorhoeve, evidence of dominant transmission was established. Third group consisted of the nine cases, mentioned above, in which osteopathia striata was associated with FDH.
The clinical presentation is highly variable even within the same family, ranging from mild skeletal manifestations to multisystem organ involvement. Cardiac malformations (ventricular septal defect, aortic stenosis), developmental delay, cranial nerve palsies, anal malformations, cataracts and nervous system malformations are frequent. Vertebral anomalies (scoliosis, spondylolisthesis), anomalies of extremities (clubfoot, unusually long and thin fingers with clinodactyly of distal phalanges), hypertelorism, frontal bossing, broad nasal bridge, prominent occipital bony protrusion and mild intellectual impairment have also been documented.
Diagnosis is based on clinical and radiological examination, which reveals cranial sclerosis, longitudinal striations in the widened metaphyses of the long bones, and sclerosis of the ribs. In the most severe cases, the disorder can be diagnosed prenatally by detection of increased biparietal diameter of the fetal head on ultrasound examination. Differential diagnosis includes a large number of conditions with primary or secondary bone sclerosis. As the macrocephaly seems to be an early and constant clinical feature, OS-CS should be considered in the differential diagnosis of fetuses/infants with unexplained macrocephaly.
Management is supportive and aims at providing multidisciplinary surveillance and symptomatic management of complications. Cases with severe multiple manifestations and those associated with Hirschsprung disease, Pierre Robin sequence and coronal craniosynostosis have poor prognosis.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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