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Gray platelet syndrome

Gray platelet syndrome Overview Gray platelet syndrome gets its name from how the platelets in people with this condition appear under a microscope. Platelets are specialized blood cells that allow your blood to clot and stop bleeding. Many conditions can cause blood clotting problems that range from mild to life threatening. Gray platelet syndrome tends to cause mild to moderate bleeding. It usually doesn’t affect life span but can lead to serious complications for some people, such as spleen rupture. Read on to learn more about this rare condition, including its causes, symptoms, and treatment options. Gray platelet syndrome causes and risk factors Gray platelet syndrome was first described in medical literature in 1971. It’s an inherited condition, meaning it develops when you receive associated genes from your parents. It’s been linked to mutations in the NBEAL2 gene. NBEAL2 seems to code for the formation of special sacs inside platelets called alpha-granules. Proteins in these sa...
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Liver abscess

 Liver abscess Overview Liver abscess, also called hepatic abscess, is a severe medical condition of the liver. It is the collection of pus in the liver that can result from liver injury or the leakage of intestinal contents from the abdomen to the liver through the portal vein (the vein that carries nutrients from the digestive organ to the liver). Liver abscess typically occurs due to infection by micro-organisms and by trauma. Pus is a fluid formed when the body fights off an illness. It is made up of dead cells and white blood cells. Sometimes, pus gathers in a pocket inside the liver rather than emptying from the infection site. Stomach pain and swelling may result from it. Usually, there is swelling and inflammation around an abscess. The most common symptoms of the liver abscess include fever (continuous or intermittent), chills, pain in the right upper side of the stomach, loss of appetite, and malaise (general feeling of discomfort or illness). The most common signs includ...
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Blepharocheilodontic syndrome

 Blepharocheilodontic syndrome Overview Blepharocheilodontic (BCD) syndrome is a rare, inherited genetic disorder present at birth that primarily affects the eyelids (blepharo--), upper lip (-cheilo--), and teeth (-dontic-). It follows an autosomal dominant inheritance pattern and is typically caused by variants in the CDH1 or CTNND1 genes, which disrupt normal cell-to-cell adhesion pathways. Symptoms Eye and Eyelid Features • Ectropion: The lower eyelids turn outward, exposing the inner surface. • Euryblepharon: The outer part of the lower eyelid sags away from the eye. • Lagophthalmia: Inability to close the eyelids completely. • Distichiasis: An extra row of eyelashes grows out of the inner lining of the upper eyelid, which can scratch and damage the cornea. • Hypertelorism: Widely spaced eyes, often accompanied by a flat face and a high forehead Oral and Dental Features • Cleft Lip and Palate: Bilateral (both sides) cleft lip and an opening in the roof of the mouth (cleft p...
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Epidermolytic hyperkeratosis (EHK)

Epidermolytic hyperkeratosis (EHK) Overview Epidermolytic hyperkeratosis (EHK), now more commonly called epidermolytic ichthyosis, is a rare, genetic skin disorder characterized by severe blistering at birth and thick, scaly skin development later in life. Symptoms • Widespread redness (erythroderma): Skin appears bright red or raw at birth. • Blisters and peeling: Fragile skin easily forms fluid-filled blisters (bullae) and peels away (denuded skin) with minor friction or touch. • Systemic risks: Missing skin barriers can lead to dangerous dehydration, electrolyte imbalances, and severe skin or systemic infections (sepsis). • Thickened skin (hyperkeratosis): Blistering decreases over time, and the skin forms thick, dark-brown, gray, or yellowish-white scales or verrucous (wart-like) plaques. • Flexural involvement: Thickening is often most prominent over skin creases and joints (such as the elbows, knees, neck, wrists, and ankles). • Painful fissuring and erosions : The hardened s...
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Bietti crystalline dystrophy (BCD)

Bietti crystalline dystrophy (BCD) Overview        Bietti crystalline dystrophy (BCD) is a rare, inherited eye condition characterized by tiny, glistening yellow-white lipid (fat) crystals in the retina and sometimes the cornea, leading to progressive vision loss. Symptoms • Night blindness (Nyctalopia): Trouble seeing clearly in dim light or at night. • Side-vision loss (Peripheral visual field loss): Gradual loss of the outer or side fields of vision. • Reduced sharpness (Decreased visual acuity): Blurry vision and difficulty with tasks like reading or recognizing faces. • Impaired color vision: Difficulty telling certain colors apart. • Asymmetrical progression: Vision changes and symptoms can happen at different rates or severity in each eye. • Retinal crystals: Small, shiny, yellow-white sparkling deposits scattered across the retina. • Corneal crystals: Tiny, fine glistening crystals located at the edge of the cornea (seen in about 25% to 33% of patients)....
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Biotin-thiamine-responsive basal ganglia disease

Biotin-thiamine-responsive basal ganglia disease Overview Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, treatable, autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene, which impairs the transport of thiamine (vitamin B1) across the blood-brain barrier Symptoms Most children show signs between ages 3 and 10. Symptoms often appear or worsen suddenly after a fever, infection, or physical stress: • Encephalopathy: Confusion, irritability, loss of previously learned skills, and severe fatigue. Movement Disorders:• Involuntary muscle tensing and twisting (dystonia) • Muscle stiffness or rigidity (cogwheel rigidity) • Weakness on one or both sides of the body (hemiparesis or quadriparesis) • Poor coordination and balance (ataxia) • Exaggerated reflexes (hyperreflexia) • Facial and Eye Nerve Issues: • Inability to move facial muscles (supranuclear facial palsy) • Paralysis of eye muscles (external ophthalmoplegia) or abnormal eye movement...
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Bare lymphocyte syndrome type 2

Bare lymphocyte syndrome type 2 Overview  Bare lymphocyte syndrome type II (BLS II), also known as Major Histocompatibility Complex (MHC) class II deficiency, is a rare autosomal recessive form of Severe Combined Immunodeficiency (SCID). It occurs when the body fails to express MHC class II molecules (such as HLA-DR, HLA-DQ, and HLA-DP) on the surface of antigen-presenting cells. Symptoms Symptoms usually appear within the first year of life: • Recurrent and Severe Infections: Frequent bacterial, viral, fungal, and parasitic infections—especially in the respiratory tract (pneumonia, bronchitis, sinusitis), gastrointestinal tract, and urinary tract. • Digestive Issues: Chronic or persistent diarrhea, nutrient malabsorption, and gastrointestinal infections (such as Cryptosporidium). • Growth and Developmental Delays : Failure to thrive, slow physical growth, and malnutrition. • Oral and Skin Conditions: Chronic mucocutaneous candidiasis (oral thrush) and persistent skin or herpesv...
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