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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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Miller Fisher Syndrome

  Miller Fisher Syndrome Overview What is Miller Fisher syndrome? Miller Fisher syndrome (MFS) is a rare disorder that causes your immune system to attack nerves, usually starting in your face. It can affect the nerves that control your eye muscles, so you may have trouble moving your eyes. MFS also can cause problems with your coordination and reflexes. Symptoms usually follow a viral or bacterial infection. Who gets Miller Fisher syndrome? Anyone can get Miller Fisher syndrome, but it’s more common in: People of Asian descent. Males. MFS affects males twice as often as females. Adults over the age of 55. What’s the difference between Miller Fisher syndrome and Guillain-Barré syndrome? Miller Fisher syndrome is a form of Guillain-Barré syndrome (GBS). Like MFS, GBS is an autoimmune disease triggered by an infection. But MFS tends to affect your upper body first, whereas GBS typically affects your lower body and then spreads upward. Common symptoms of GBS include back pain, breathi...
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Familial porencephaly

Familial porencephaly Overview  Familial porencephaly is a rare genetic brain disorder characterized by fluid-filled cysts or cavities in the cerebral hemispheres that develop due to bleeding (hemorrhagic stroke) or blood vessel damage before or shortly after birth. It belongs to a group of conditions known as COL4A1-related disorders. Symptoms • Infantile hemiplegia: Paralysis or weakness affecting one side of the body, typically becoming apparent during infancy. • Recurrent seizures (epilepsy): Involuntary electrical disturbances in the brain causing seizures. • Migraine headaches : Frequent or severe headaches, sometimes linked to underlying small vessel changes. • Speech and language problems: Delays or difficulty in speech production and communication. • Intellectual disability: Ranging from mild learning differences to more significant cognitive impairment. • Dystonia: Uncontrolled muscle tensing, spasms, or abnormal postures. • Leukoencephalopathy: Changes in the brain'...
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Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive axonal neuropathy with neuromyotonia Overview Autosomal recessive axonal neuropathy with neuromyotonia is a rare inherited disorder that damages peripheral nerves, causing muscle weakness and delayed relaxation. Symptoms • Muscle Weakness and Wasting (Atrophy): Affects the lower legs, feet, and hands, often starting in childhood or adolescence. • Gait and Mobility Issues: Leads to an unusual walking style (abnormal gait), foot drop, and frequent falls. • Exercise Intolerance: Muscle weakness becomes much more noticeable during physical exertion. • Joint Deformities (Contractures) : Causes tightening of the tendons in the hands and feet. • Neuromyotonia (Isaac Syndrome): Results in nerve overactivation, causing delayed muscle relaxation after tensing, painful muscle cramps, and muscle stiffness. • Myokymia: Involuntary, rippling, or twitching movements under the skin of the muscles at rest. • Sensory Impairment: Occasionally causes a mild reduction in the abilit...
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