ABSTRACT
Genochondromatosis is an extremely rare autosomal dominant disorder, which manifests during childhood and tends to regress in adult life. The bony lesions are symmetrically distributed with characteristic localization at the metaphysis of proximal humerus and distal femur. Two types have been described based on the involvement of clavicle. Usually asymptomatic, sometimes patients may present with pathological fractures. In this communication, we describe four members of a family with Genochondromatosis type I, with some additional clinical and radiological findings not reported previously.
Subject(s)
Bone Neoplasms/diagnostic imaging , Bone Neoplasms/pathology , Chondromatosis/diagnostic imaging , Chondromatosis/pathology , Neoplastic Syndromes, Hereditary/diagnostic imaging , Neoplastic Syndromes, Hereditary/pathology , Adolescent , Adult , Child , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Male , Pedigree , Radiography , Radius/pathologyABSTRACT
Transient osteoporosis of the hip is a rare, self-limiting condition, occurring most commonly in middle-aged men, but also sometimes in women, usually in late pregnancy. It is characterised by gradual onset of hip pain aggravated by weight bearing without any associated history of trauma and systemic illness. It is usually of unknown aetiology, but pregnancy is a recognised risk factor for women. Other conditions that can mimic transient osteoporosis of the hip on MRI are osteonecrosis, osteomyelitis and neoplasms. We present a case of a 38-year-old non-pregnant woman with transient osteoporosis of the hip, managed conservatively, leading to a full recovery. Treatment is conservative, including protected weight bearing, physical therapy and non-steroidal analgesics. The patient was completely painless and symptom free at 2-year follow-up.
