Poha Progressive Osseous Heteroplasia

POHA has helped raise over $1 Million for POH Research and have connected families with the leading POH physicians and medical facilities dedicated to POH support. Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease: A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information.

The Surgeon General offers a tool to help you collect your family health history. If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases. Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers.

Building a care team that understands your needs can make a significant difference in your quality of life. Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification.[1] According to the Progressive Osseous Heteroplasia Association: Progressive Osseous Heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendons, and ligaments. This ”out of place extra bone formation” is commonly referred to as heterotopic ossification. In people with POH, nodules and lace-like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues, and may cross joints.

Extra bone formation near the joints may lead to stiffness, locking, and permanent immobility.”[2] A telltale symptom of POH is osteoma cutis under the skin of a newborn.[4] It was discovered in 1994 by physician Frederick Kaplan.[5] Patients with POH have a distinctly different manifestation of symptoms than those with fibrodysplasia ossificans progressiva (FOP), though heterotopic ossification appears in both diseases. They lack the congenital abnormality of the big toe that is a diagnostic feature for FOP. People with POH also have ossification of the skin during infancy, which does not occur in FOP. Also, the pattern of ossification differs in POH, spreading in an intramembranous fashion rather than endochondral.[6]

Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility. Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy.

In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood. Progressive osseous heteroplasia is a rare condition. Its exact incidence is unknown. Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions.

The protein produced from the GNAS gene is believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside the skeleton. Progressive Osseous Heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendons, and ligaments. This ”out of place extra bone formation” is commonly referred to as heterotopic ossification. In people with POH, nodules and lace-like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues, and may cross joints. Extra bone formation near the joints may lead to stiffness, locking, and permanent immobility.

The condition is often first noted in infancy with the appearance of small “rice-grain” particles of bone in the skin. A parent may describe this as a roughness in the skin. During childhood, bone formation may progress from the skin into subcutaneous tissue and extend into deeper structures including muscles, tendon and ligament. Affected areas may be small or large and involve scattered and variable regions of the body surface. The condition does not involve any other organ system and does not affect the formation of any portions of the normal skeleton at birth. POH is often congenital, meaning that it may be present at birth.

In most children symptoms of POH usually begin during the first few months of life. The majority of affected children are diagnosed with POH before the age of ten. Bone formation begins typically in small patches of skin and can occur in any region of the body. People who have POH experience different rates of new bone formation: in some, the progress is rapid, while in most it is more gradual. In each child, the exact rate of progression is unpredictable. In any affected area, there appears to be a progression from superficial to deeper tissues.

For example, extra bone formation occurs first in the skin, then progresses down to subcutaneous tissue, and then to deeper tissues like muscle. In some individuals, the bone formation may involve a small area of the body, and in others, relatively large or multiple areas of the body. Very often, the extra bone formation may predominate more on one side of the body. Although the limbs are most commonly affected, bone formation may also involve the head, chest, abdomen, pelvis and back. The Progressive Osseous Heteroplasia Association (POHA) is a non-profit, voluntary organization dedicated to raising funds for research into finding appropriate treatment and a cure for progressive osseous heteroplasia (POH). POH is an extremely rare disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification).

The disorder first appears as areas of patchy bone formation (ossification) on the skin during infancy; heterotopic ossification progresses to involve superficial and deep connective tissues, areas of fat beneath the skin (subcutaneous fat),... In addition to serving as a patient education organization, POHA strives toward an additional goal, to raise sufficient funds to make the medical world more aware of POH. Established in 1995, the association produces educational materials including a handbook entitled “What is POH? A Guidebook for Families,” reprints of scientific and medical journal articles about POH, and a videotape of a 1995 symposium on fibrodysplasia ossificans progressiva (FOP), a similar but distinct rare disorder.

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