Health and Fitness

Posts

CREST syndrome

CREST syndrome Overview CREST syndrome, now also known as limited cutaneous systemic sclerosis, is a connective tissue disorder characterized by five main features that form the acronym: Calcinosis (calcium deposits), Raynaud's phenomenon (cold-sensitive blood vessel spasms), Esophageal dysmotility (difficulty swallowing), Sclerodactyly (thickened skin on the fingers), and Telangiectasia (dilated blood vessels). The syndrome primarily affects the skin in the hands and face and is managed with treatments for its specific symptoms, such as antiacids for reflux, lotions for skin, and medication for blood pressure. Symptoms Calcinosis : Hard lumps of calcium deposits form under the skin, especially in the fingers. Raynaud's phenomenon: Episodes where fingers or toes become white or blue in response to cold or stress. Esophageal dysfunction: Difficulty swallowing (dysphagia), acid reflux, and heartburn. Sclerodactyly: Thickening and tightening of the skin on ...

Cowden Syndrome

Cowden Syndrome Cowden syndrome is a rare genetic (inherited) condition. People with Cowden syndrome often have many noncancerous, tumor-like growths. They may also have an increased risk of developing certain cancers. Symptoms Most people are in their 20s before they notice changes in their body that may be Cowden syndrome signs and symptoms. People may be diagnosed with Cowden syndrome after seeking medical care for hamartomas or early-onset cancer. Hamartomas (pronounced “HA-mar-TOH-muhs”) are among the obvious and most common signs of Cowden syndrome. Hamartomas are noncancerous, tumor-like growths that can grow anywhere on or in your body but typically appear on your neck, face or head. Other Cowden syndrome symptoms include: A large head (macrocephaly). Small, smooth growths that form on your skin (trichilemmomas). Clear bumps on the soles of your feet, palms and the back of your hands (acral keratosis). Wart-like bumps on your tongue, gums, the back of your throat and your tonsi...

CIDP (Chronic Inflammatory Demyelinating Polyneuropathy)

CIDP (Chronic Inflammatory Demyelinating Polyneuropathy) Overview CIDP (chronic inflammatory demyelinating polyneuropathy) is a rare neurological condition that causes worsening (progressive) muscle weakness, numbness and other symptoms. Breaking down the name of the condition helps to understand it: Chronic: “Chronic” means “long-term.” CIDP slowly develops over at least eight weeks. It can also improve and then come back (relapse) over the course of months or years. Inflammatory : Researchers think CIDP happens due to issues with your immune system, specifically a type of autoimmune attack. This causes excessive inflammation that damages your peripheral nerves— the nerves outside of your brain and spinal cord. Demyelinating: The inflammation specifically affects the myelin sheath of your nerves. This is the protective sleeve (sheath) that’s wrapped around each nerve cell (neuron). Demyelination refers to the destruction of the myelin sheath. Polyneuropathy: This is the malfunction ...

Tinnitus

Tinnitus Overview Tinnitus is when you experience ringing or other noises in one or both of your ears. The noise you hear when you have tinnitus isn't caused by an external sound, and other people usually can't hear it. Tinnitus is a common problem. It affects about 15% to 20% of people, and is especially common in older adults. Tinnitus is usually caused by an underlying condition, such as age-related hearing loss, an ear injury or a problem with the circulatory system. For many people, tinnitus improves with treatment of the underlying cause or with other treatments that reduce or mask the noise, making tinnitus less noticeable. Symptoms Tinnitus is most often described as a ringing in the ears, even though no external sound is present. However, tinnitus can also cause other types of phantom noises in your ears, including: Buzzing Roaring Clicking Hissing Humming Most people who have tinnitus have subjective tinnitus, or tinnitus that only you can hear. The noises of tinnitus...

CADASIL

CADASIL Overview CADASIL, or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is a rare, inherited disorder that causes blood flow blockages in the brain, leading to stroke, dementia, and migraines with aura. Caused by mutations in the <<Huffman>NOTCH3 gene, it typically manifests in adults between ages 20 and 40 and requires a diagnosis confirmed by genetic testing or a skin biopsy. There is no cure, so management focuses on symptom treatment and reducing stroke risk factors, such as high blood pressure and smoking. Symptoms Migraine with aura: Often the first symptom, appearing in early to mid-adulthood. Strokes : Recurrent ischemic strokes are common, and they can lead to a progressive decline in cognitive function. Cognitive decline: This can progress to dementia over time, affecting memory, thinking, and executive function. Mood disturbances: Apathy, depression, and other mood issues can occur....

Chediak-Higashi syndrome

Chediak-Higashi syndrome Overview Chediak-Higashi syndrome is a rare genetic disorder that impairs immune cells, leading to recurrent infections, and also affects pigment in the skin, hair, and eyes, causing a form of albinism. Key symptoms include recurrent bacterial infections, oculocutaneous albinism (light skin and hair, sometimes with a metallic sheen), and vision problems. Over time, neurological problems such as weakness, clumsiness, and difficulty walking can develop Symptoms Recurrent infections: Due to damaged immune cells, individuals are prone to serious and frequent bacterial and viral infections. Oculocutaneous albinism: This is characterized by pale skin, light-colored hair that may have a metallic sheen, and possible vision problems like reduced sharpness, rapid eye movements (nystagmus), and sensitivity to light. Neurological problems: These typically appear later and can include peripheral neuropathy, poor coordination (ataxia), and progressive mot...