Tag: rare diseases

  • Morvan Disease — Syringomyelia

    Morvan Disease — Syringomyelia: Definition and Description of Morvan Disease — Syringomyelia: Morvan Disease, often intertwined with the condition known as syringomyelia, is a rare neurological disorder characterized by the formation of a fluid-filled cyst, known as a syrinx, within the spinal cord. This syrinx can progress over time, leading to various neurological symptoms. Morvan…

  • Lymphangioleimyomatosis

    Lymphangioleimyomatosis Definition and Description of Lymphangioleimyomatosis Lymphangioleimyomatosis (LAM) is a rare, progressive lung disease primarily affecting women, typically during their reproductive years. It is characterized by the abnormal growth of smooth muscle cells in various body tissues, notably in the lungs, lymphatic system, and kidneys. These growths can lead to the obstruction of airways and…

  • Mammary Paget’s Disease

    Mammary Paget’s Disease Definition and Description of Mammary Paget’s Disease Mammary Paget’s Disease is a rare type of breast cancer that originates in the nipple and its surrounding area, caused by the presence of malignant cells in the skin of the nipple. It often appears initially as an eczema-like rash or sore on the nipple…

  • LCH

    LCH Definition and Description of LCH Langerhans Cell Histiocytosis (LCH) is a rare and complex disease characterized by the overproduction of Langerhans cells, a type of white blood cell that plays a role in the body’s immune response. LCH can affect various organs, including the bones, skin, lymph nodes, and more, manifesting in different forms…

  • Lichen Planus Sclerosus Atrophicus

    Lichen Planus Sclerosus Atrophicus Definition and Description of Lichen Planus Sclerosus Atrophicus Lichen Planus Sclerosus Atrophicus (LPSA) is a rare inflammatory skin condition characterized by the development of white patches or plaques on the skin, often appearing in areas such as the genitalia, anus, and other mucosal surfaces. It is considered a subtype of lichen…

  • Lipodystrophy

    Lipodystrophy Definition and Description of Lipodystrophy Lipodystrophy is a rare group of disorders characterized by abnormal or degenerative conditions of the body fat. It involves either the total or partial loss of adipose (fat) tissue and can have significant metabolic repercussions. Medical definitions of lipodystrophy categorize it based on its etiology, which can be genetic,…

  • Labhart-Willi Syndrome

    Labhart-Willi Syndrome Definition and Description of Labhart-Willi Syndrome Labhart-Willi Syndrome (LWS) is a rare genetic disorder that is characterized by a range of symptoms affecting physical and mental development. It primarily involves growth abnormalities and hyperphagia, leading to obesity. Individuals with LWS may also exhibit distinctive facial features and cognitive impairments. This syndrome is linked…

  • Langerhans Cell Histiocytosis

    Langerhans Cell Histiocytosis Definition and Description of Langerhans Cell Histiocytosis Langerhans Cell Histiocytosis (LCH) is a rare type of disorder characterized by an excess of Langerhans cells, which are a type of dendritic cell responsible for immune system function. These cells can accumulate in various tissues, leading to inflammation and damage in affected organs. LCH…

  • KTW Syndrome

    KTW Syndrome Definition and Description of KTW Syndrome KTW Syndrome is a rare genetic disorder characterized by notable craniofacial abnormalities, growth deficiencies, and various systemic issues. The acronym “KTW” refers to the surnames of the researchers who first described the condition. Patients with KTW Syndrome may exhibit distinctive features, including low-set ears, a broad nose,…

  • Jumping Frenchmen of Maine

    Jumping Frenchmen of Maine Definition and Description of Jumping Frenchmen of Maine Jumping Frenchmen of Maine is a rare neurological disorder characterized by an exaggerated startle response. This condition primarily affects the French-Canadian population in the Moosehead Lake region of Maine. Individuals with this disorder may exhibit involuntary movements, such as jumping, when startled, along…