Paget Disease: A Case Study

Gorham’s disease is an extremely rare musculoskeletal disease of unknown origin that is characterized by the uncontrolled production of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis and the destruction of bone (Lymphangiomatosis and Gorham’s Disease Alliance [LGD Alliance] 2016). This disease usually occurs in children or younger adults that are forty years or younger. Diagnosis and treatment is usually delayed due to the rarity of this disease and due to the fact that many physicians do not have the chance to learn about this disease (Patel, 2005). Because of the loss of the affected bone, the condition is also called disappearing bone disease, vanishing bone disease, and massive osteolysis. Osteolysis means the breaking down of bone. The word is broken up into bone (osteo) and breaking down or destruction (lysis) (LGD Alliance 2016). Fewer than 200 accounts of Gorham’s Disease are reported in the medical literature (National Organization of Rare Disease [NORD] 2008). The condition got its name when Gorham and his colleagues discovered two patients with massive osteolysis in 1954. In 1955, Gorham and Stout discovered further information on these cases and named the disease Gorham’s disease, sometimes called Gorham-Stout disease (Patel, 2005).

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

The patient is a 72 year old female. She has been experiencing progressively worse pain and stiffness in her joints. She is reports that she is having decreased range of motion, redness, and swelling in her joints. She is reports symptoms occur in the same joints on both sides of her body. She is also reporting the symptoms are worse when she first wakes up in the morning.

Although the disease often occurs in adolescent or young women, it more commonly appears between 30 and 50 years of age.

In some cases it may cause nausea, kidney stones, fatigue, weakness, and constipation. If you get a fracture it may be more noticed in your arms, legs, or spine. If you get an x-ray if may indicate thin bones. Some signs may be weight loss, vomiting, and appetite loss. If any of these things happen that mean OFC is the result of parathyroid carcinoma.

Extramammary Paget disease (EMPD) arises as a primary cutaneous adenocarcinoma in most cases. The epidermis becomes infiltrated with neoplastic cells showing glandular differentiation. Tumor cells may originate from apocrine gland ducts or from keratinocytic stem cells.

Osteosarcomas are primary malignant tumors of the bone characterized by the production of osteoid or immature bone by malignant cells. Although uncommon in general, they are the most common primary malignancy of bone in children and adolescents, and the fifth most common malignancy among adolescents and young adults age 15–19 years old. There is a bimodal age distribution of osteosarcoma incidence, with peaks in early adolescence and in adults over the age of 65. In children, the majority of cases are sporadic, while in older adults, about one third of the cases arise in the setting of Paget disease of the bone. Risk factors include prior irradiation or chemotherapy, Paget disease and other benign bone lesions, and inherited conditions. The majority of patients with osteosarcoma present with localized pain over several months’ duration. The pain commonly begins after an injury and may wax and wane over time. The most important finding on physical examination is a soft tissue mass, which may be large and tender to palpation. Osteosarcomas are commonly found in the metaphyseal region of the long bones, most commonly the distal femur and proximal tibia. Laboratory evaluation may find elevations in alkaline phosphatase, lactate dehydrogenase (LDH), and erythrocyte sedimentation rate. Characteristic features found on plain radiographs include destruction of the normal trabecular bone pattern, indistinct margins, and lack of endosteal bone

Paget's disease of bone (PDB), also known as osteitis deformans, is named after Sir James Paget, an English surgeon, who first described the disease in 1877. Since then, research has determined that 15% to 40% of cases are inherited and the balance is thought to be caused by exposure to a “slow” viruses like human respiratory syncytial virus or canine distemper virus, however, symptoms may not appear for many years afterward. In about half of cases that are hereditary, a mutated gene has been isolated that is known to cause osteoclasts to become rogue and un-regulated. PDB causes long bones to grow unnaturally long causing pain and osteoarthritis, hearing loss and nervous systems disorders from pressure on the brain caused by cranium overgrowth,

Pagets Disease is a non-infectous disease effecting any part of the skeletal system of the host, but usually found in the skull, spine, plvis, thigh bone, shin and the bone in the upper arm, This causes the bones to enlarge and become weak. The cause for Pagets Disease is currently unknow but to not be confused with the unrelated skin condition that bares the same name.

Hi Gi Hwa Shin, I appreciate your presentation on paget disease because you topic challenged me to review the literatures and recent studies. I did not see any patient with paget disease, even though it would be a good experience to share my knowledge.

Two million osteoporosis-related fractures occur annually in the United States alone [1]. Besides the economic burden, these fractures cause significant morbidity, disability and sometimes premature death [2]. The introduction of bisphosphonates (BP) since the 1990s, has led to dramatic improvement in the outcomes of osteoporosis. As bone resorption inhibitors, they are the first-line treatment of osteoporosis with some additional indications of use in Paget’s disease, osteogenesis imperfecta, hypercalcemia of malignancy and bone metastasis. Osteoporosis treatment is offered to patients with either of following conditions: a) osteopenia and history of fragility fracture in hip or spine, b)

Bisphosphonates are a class of drugs used in the treatment of multiple diseases that result in the loss of bone mass. Such diseases include osteoporosis, multiple myeloma, and bone metastasis as a result of breast or prostate cancer. (Lam et al., 2007). There are several different mechanisms through which bisphosphonates work to prevent bone loss. One such method is to inhibit bone resorption by: preventing recruitment of osteoclasts to the site of bone injury, inhibiting osteoclast activity, and initiating apoptosis in osteoclasts. Certain classes of bisphosphonates are capable of inhibiting the proliferation and stimulating the apoptosis of cancer cells by interfering with the adhesion of the cells to the bone matrix. (Lam et al., 2007).

In many patients, diagnosis is only made by intraoperative findings and is confirmed by a postoperative pathological report consistent with parathyroid carcinoma. This is due to the fact that often the preoperative clinical and biochemical characteristics of patients are indistinguishable from benign causes of hyperparathyroidism [15]. Intraoperative findings suggestive of malignant disease are mentioned later in this

Whereas postmenopausal osteoporosis is characterized by generalized bone loss from increased osteoclast activity, Paget disease of bone involves one or more areas of disordered bone remodeling, in which accelerated osteoclast mediated bone resorption is followed by imperfect osteoblast- mediated bone

Progressive destruction of the vertebral bodies as a result of the disease may lead to vertebral