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Benign essential blepharospasm (BEB)

Benign essential blepharospasm (BEB) Overview Benign essential blepharospasm (BEB) is a chronic neurological movement disorder marked by involuntary, repetitive spasms and contractions of the eyelid muscles. It typically begins with increased blinking or eye irritation, and can progress to forceful, sustained eyelid closures that impair vision. Symptoms • Increased blinking: Blinking happens more often and may start in one eye before moving to both eyes. • Eye irritation: The eyes may feel dry, gritty, or tired. • Environmental sensitivity: Bright sunlight, wind, air pollution, or dust can make the symptoms worse. • Involuntary eyelid closing : Spasms become stronger, causing the eyelids to narrow or clamp shut. • Difficulty keeping eyes open: It becomes hard or impossible to voluntarily keep the eyes open during episodes. • Functional blindness: In severe cases, prolonged or sustained eyelid closure blocks vision even though the eye structure itself remains healthy. • Bilateral in...
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Beare-Stevenson cutis gyrata syndrome

 Beare-Stevenson cutis gyrata syndrome Overview Beare-Stevenson cutis gyrata syndrome is a rare, life-threatening genetic disorder caused by specific mutations in the FGFR2 (fibroblast growth factor receptor 2) gene, inherited in an autosomal dominant pattern. Symptoms • Craniosynostosis: Premature closure of the skull sutures, frequently resulting in a cloverleaf-shaped skull (kleeblattschädel) in over half of cases. • Facial appearance: Bulging eyes (proptosis), wide-set eyes (hypertelorism), downward-slanting eyelids (downslanted palpebral fissures), drooping eyelids (ptosis), and an underdeveloped upper jaw (midface hypoplasia/retrusion). • Ear defects: Abnormalities of the earlobes, narrow or stenotic ear canals, and conductive hearing loss. • Cutis gyrata: Thick, furrowed, and wrinkled skin resembling a corrugated pattern, most commonly seen on the face, forehead, neck, ears, palms, and soles. • Acanthosis nigricans: Thick, dark, velvety skin patches, typically appearing o...
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Monilethrix

Monilethrix Overview Monilethrix is a rare genetic hair disorder characterized by a distinctive "beaded" appearance of the hair shaft, extreme fragility, and sparse hair growth (hypotrichosis). Monilethrix is a rare inherited disorder characterized by sparse, dry, and/or brittle hair that often breaks before reaching more than a few inches in length. The hair may lack luster, and there may be patchy areas of hair loss (alopecia). Another common symptom may be the appearance of elevated spots (papules) surrounding the hair follicles that may be covered with gray or brown crusts or scales (perifollicular hyperkeratosis). When viewed under a microscope, the hair shaft resembles a string of evenly-spaced beads. In most cases, monilethrix is inherited as an autosomal dominant trait. Symptoms In most cases of monilethrix, the hair is normal at birth; it may then be slowly replaced by abnormal hair during the first few months to two years of life. In some rare cases, the hair may be...
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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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