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Hepatocellular Carcinoma (HCC)

Hepatocellular Carcinoma (HCC) Overview What is hepatocellular carcinoma (HCC)? Hepatocellular carcinoma is the most common form of liver cancer. It’s an aggressive (fast-growing) cancer most common in people with advanced liver disease, like cirrhosis of the liver. Increasingly, people diagnosed with HCC have a liver condition that sometimes leads to cirrhosis called metabolic dysfunction-associated steatotic liver disease (MASLD). In the beginning, hepatocellular carcinoma grows slowly. Surgery to remove the tumor or a liver transplant can treat HCC in its early stages. But most people don’t learn they have it until it’s advanced and spreading more quickly. Eventually, it can lead to liver failure. At this point, HCC is challenging for providers to treat. Given how serious it is, you should receive regular checks for signs of HCC if you have cirrhosis or MASLD. Symptoms Tumors may not cause symptoms in the early stages. But as HCC progresses, you may notice: Fullness or a knot under ...
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Nager Syndrome

Nager Syndrome Overview What is Nager syndrome? Nager syndrome (also known as acrofacial dysostosis 1, Nager type) is a rare genetic condition where your child is born with underdeveloped bones in their face, hands and arms. Because this condition causes side effects like hearing loss due to underdevelopment of certain parts of their anatomy, children may face developmental delays like learning how to speak. Nager syndrome typically doesn’t affect the intelligence (cognitive development) of the person diagnosed with this condition. Who does Nager syndrome affect? Nager syndrome is a genetic condition that can affect anyone with a specific mutated gene in their DNA during fetal development. Children diagnosed with the condition may inherit it from their parents or acquire it from a new genetic mutation. It’s more common for the condition to arise after a new genetic mutation. If your child inherits the condition, only one parent needs to carry and pass the mutated gene through their DNA...
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Mal de Meleda (MDM)

Mal de Meleda (MDM)  Overview Mal de Meleda (MDM) is a rare, inherited autosomal recessive skin disorder characterized by severe, progressive thickening of the skin on the palms and soles (palmoplantar keratoderma), often spreading to the wrists and ankles. It appears in infancy, often with sharply defined, waxy yellow-brown plaques, and is typically managed with oral retinoids. Symptoms Palmoplantar Keratoderma: The skin on the palms of the hands and soles of the feet becomes diffusely thick, hard, waxy, and yellowish. Transgredient Spread: The keratoderma often spreads to the back of the hands and feet (dorsum), wrists, ankles, and lower forearms in a "glove and stocking" distribution. Erythema (Redness): Affected areas are often surrounded by a sharp, clearly demarcated red, scaly border. Plaques on Joints: Thickened, scaly, and rough plaques frequently appear on the elbows, knees, and knuckles. Causes Protein Function: The \(SLURP1\) gene provides instructions for produ...
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Pfeiffer Syndrome

Pfeiffer Syndrome Overview What is Pfeiffer syndrome? Pfeiffer syndrome is a genetic condition where the bones (sutures) in the skull close before the brain is fully grown (craniosynostosis). This causes deformities. Characteristics that lead to a Pfeiffer syndrome diagnosis include an underdeveloped or sunken face, bulging or wide eyes and an abnormally shaped head. Another characteristic is when the thumbs and the first (big) toe bends away from other fingers and toes. What are the types of Pfeiffer syndrome? There are three different types of Pfeiffer syndrome based on the severity of the condition, including: Type 1: Type 1 or classic Pfeiffer syndrome has mild symptoms, including facial deformities and well-defined thumbs and big toes. Children diagnosed with classic Pfeiffer syndrome usually have an average life expectancy and typical intelligence with treatment. Type 2: Type 2 Pfeiffer syndrome is more severe than type 1, often with more complex bone growth abnormalities in th...
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Pompe Disease

Pompe Disease Overview What is Pompe disease? Pompe disease is a type of glycogen storage disease, a genetic condition in which a complex sugar called glycogen builds up in your body’s cells. The disease results from the deficiency of a digestive enzyme called acid alpha-glucosidase (GAA). GAA normally breaks down complex sugars in your body. Other names for the condition include: Pompe’s disease. Acid maltase deficiency. Glycogen storage disease type II (GSD2). Providers also refer to Pompe disease (pronounced “pom-pay”) as a lysosomal storage disease. Lysosomes are small compartments inside your cells that hold and recycle certain substances. Enzymes such as GAA (or acid maltase, hence the name acid maltase deficiency) help break down these substances. A lack of this enzyme causes glycogen to build up within the lysosomes. This buildup occurs in the cells of your organs and tissues, especially your heart and skeletal muscles, causing them to break down. Types of this condition Resear...
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Weyers acrofacial dysostosis

Weyers acrofacial dysostosis Overview Weyers acrofacial dysostosis (WAD), or Curry-Hall syndrome, is a rare autosomal dominant skeletal dysplasia characterized by postaxial polydactyly (extra fingers/toes), nail dystrophy, dental anomalies (small/conical teeth), and mild short stature. It is caused by mutations in the EVC2 gene and is generally a milder, non-lethal form of Ellis-van Creveld syndrome, usually without heart defects Symptoms Limb Anomalies : Postaxial polydactyly (extra digits on the hands or feet, usually on the pinky side) and fusion of the 5th and 6th metacarpals/metatarsals. Dental Anomalies : Hypodontia (fewer teeth than normal), microdontia (small teeth), peg-shaped or conical teeth, and single central incisors. Nail Dystrophy : Abnormally small, brittle, or malformed fingernails and toenails (onychodystrophy). Facial Features: Micrognathia (small lower jaw/mandible), small mouth, and abnormal dentation. Growth: Mildly short stature (often around the 5th percentile...
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Peeling skin syndrome 2 (PSS2)

Peeling skin syndrome 2 (PSS2) Overview Peeling skin syndrome 2 (PSS2), also known as Acral Peeling Skin Syndrome (APSS), is a rare, inherited skin disorder characterized by painless, continuous exfoliation of the top layer of skin, particularly on the hands and feet. It is caused by genetic mutations, often in the \(TGM5\) gene, and is often worsened by heat, humidity, and moisture. Symptoms Localized Peeling: Primary, ongoing exfoliation of the skin on the palms of the hands and soles of the feet, occasionally extending to the arms and legs. Painless Exfoliation: The skin peels off in sheets or patches, often without pain, itching, or redness, although it can be temporarily red and itchy (erythema). Triggered by Moisture: Skin shedding is accelerated by humidity, sweating, and heat. No Scarring: Despite the constant peeling, the skin underneath usually heals without scarring. Onset Timing: Symptoms frequently appear at birth or in early childhood, although they may appear later ...
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