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Showing posts from December, 2025

Lipodystrophy

Lipodystrophy Overview Lipodystrophy is a general term for a group of conditions that are characterized by a complete (generalized) or partial loss of fat tissue (adipose tissue) in certain areas of your body and/or abnormal distribution of fat tissue. There are multiple types of lipodystrophy, which may be either genetic (caused by a genetic mutation) or acquired (caused by another condition). The types of lipodystrophy affect people differently and have several different symptoms. What is the function of adipose tissue? You have adipose tissue (fat tissue) throughout your body, including beneath your skin and around your internal organs. Adipose tissue serves many important functions, including: Storing calories for energy. Providing cushioning for various parts of your body. Providing insulation (keeping your body warm). Releasing certain hormones, such as leptin. Moderating inflammation. A loss and/or redistribution of body fat due to lipodystrophy can cause significant changes in ...

Lentigo maligna melanoma

Lentigo maligna melanoma Overview Lentigo maligna melanoma (LMM) is an invasive skin cancer that develops from lentigo maligna (LM), a non-invasive form (melanoma in situ) on chronically sun-damaged skin, typically the face or neck of older adults, appearing as a slow-growing, irregularly pigmented patch that eventually deepens, requiring surgical removal to prevent spread, with Mohs surgery often preferred for its location Symptoms Initial Stage (Lentigo Maligna - In Situ) : Flat Patch: A flat, tan, brown, or sometimes pink patch on sun-damaged skin (face, ears, arms). Irregular Borders: Uneven, scalloped edges. Varied Color: Multiple shades of brown, black, or even blue. Slow Growth: Grows outward over years, like a large freckle. Progression to Melanoma (Invasive): Color Change: Deepens to dark brown or black. Texture Change: Becomes raised, developing a nodule or blue-black bump. Changes in Sensation: May start to itch, bleed, crust, or ooze, though it's often asymptomatic e...

Laurence-Moon-Biedl-Bardet syndrome

Laurence-Moon-Biedl-Bardet syndrome Overview Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare genetic disorder, though some now consider it a distinct condition from Bardet-Biedl syndrome (BBS) due to different genetic causes. It is characterized by a combination of symptoms including early-onset vision loss due to retinitis pigmentosa, central obesity, post-axial polydactyly (extra fingers or toes), mental retardation, and hypogonadism (underdeveloped sex organs). It is a ciliopathy, meaning it affects a cellular structure called the cilium, and can also involve kidney dysfunction, developmental delays, and other issues Symptoms Vision: Early night blindness, loss of peripheral vision, leading to legal blindness. Physical: Extra fingers or toes (polydactyly), central obesity, poor coordination, distinctive facial features, dental issues, short stature. Neurological/Cognitive : Intellectual disability, learning difficulties, speech delays, behavioral issues (like anxiety, anger)...

Korsakoff syndrome

Korsakoff syndrome Overview Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of thiamine (vitamin B-1). Korsakoff syndrome is most commonly caused by alcohol misuse, but certain other conditions also can cause the syndrome. Thiamine helps brain cells produce energy from sugar. When levels fall too low, brain cells cannot generate enough energy to function properly. Korsakoff syndrome is most commonly caused by alcohol misuse, but can also be associated with AIDS, cancers that have spread throughout the body, chronic infections, poor nutrition and certain other conditions. It is also common in people whose bodies do not absorb food properly (malabsorption). This can sometimes occur with a chronic illness or after weight-loss (bariatric) surgery. Korsakoff syndrome is often — but not always — preceded by an episode of Wernicke encephalopathy, which is an acute brain reaction to severe lack of thiamine. Wernicke encephalopathy is a medical emergency that causes ...

Klinefelter syndrome

Klinefelter syndrome Overview Klinefelter syndrome is a common condition that results when a person assigned male at birth has an extra copy of the X sex chromosome instead of the typical XY. Klinefelter syndrome is a genetic condition that occurs before birth, but it often isn't diagnosed until adulthood. Klinefelter syndrome may affect testicular growth. This results in smaller testicles, which can lead to making less of the hormone testosterone. The syndrome also may cause smaller muscle mass, less body and facial hair, and extra breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same symptoms. Most people with Klinefelter syndrome produce little or no sperm, but assisted reproductive procedures may make it possible for some people with Klinefelter syndrome to have biological children. Symptoms Symptoms of Klinefelter syndrome vary widely. Many children with Klinefelter syndrome show few or only mild symptoms. Most often the condition isn't dia...

Kartagener Syndrome

Kartagener Syndrome Overview Kartagener syndrome is a type of primary ciliary dyskinesia or PCD, that may also cause reversed internal organs. This means your organs are on the opposite side of your body from where they should be.  Primary ciliary dyskinesia is a genetic condition where the cilia aren’t working properly. Cilia are hair-like structures on the surface of your cells and are found in your lungs, airways, and other areas. They move in a wave-like motion to help position organs during a baby’s growth in the womb, and they help move out mucus, bacteria, and debris from your lungs and airways.    In PCD and Kartagener syndrome, these cilia don’t move or they don’t move very well, which causes ongoing lung, sinus, and ear problems. Not all people with PCD have reversed organs, so Kartagener syndrome is a subtype of the disease. Symptoms The main symptom of Kartagener syndrome is lung problems. Because the cilia don’t work properly, you have trouble moving debris a...

Kaposi sarcoma

Kaposi sarcoma Overview Kaposi sarcoma is a type of cancer that forms in the lining of blood vessels and lymph vessels. The cancer forms growths of cells, called lesions, on the skin. The lesions often form on the face, arms and legs. The lesions may look pink, red, purple or brown. Lesions also can appear on the genitals or in the mouth. In severe Kaposi sarcoma, lesions can be in the digestive tract and lungs. The cause of Kaposi sarcoma is infection with the virus human herpes virus 8, also called HHV-8. In healthy people, this infection usually causes no symptoms because the immune system keeps it under control. In someone with a weakened immune system, however, HHV-8 can lead to Kaposi sarcoma. Types of Kaposi sarcoma include: AIDS-related or epidemic Kaposi sarcoma. This type happens in people infected with human immunodeficiency virus, also called HIV. HIV is the virus that causes AIDS. Transplant-associated or iatrogenic Kaposi sarcoma . This type happens in people who take me...

Juvenile Myoclonic Epilepsy

Juvenile Myoclonic Epilepsy Overview Juvenile myoclonic epilepsy (JME) is an hereditary, idiopathic generalized epilepsy that typically begins between ages 12 and 18 and is characterized by myoclonic jerks, especially upon waking. Other seizure types, including generalized tonic-clonic and absence seizures, are also common. Treatment involves a combination of lifestyle management, such as avoiding sleep deprivation and alcohol, and anti-seizure medication, which is highly effective for most people Symptoms The main symptom of JME is having myoclonic seizures that occur any time. These are more likely when a person wakes up, either in the morning or from a nap. These seizures involve sudden, quick, small jerks of the arms and shoulder and, less often, the legs. These movements may be limited to the hands. The person may throw or drop something from their hands. Myoclonic seizures can occur in clusters, affecting one or both sides of the body. These seizures can be a warning sign that a ...