Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
Leukoencephalopathy ( leukodystrophy -like diseases) is all of the brain white matter diseases, whether their molecular cause is known or not. [1] It can refer specifically to any of these diseases: Progressive multifocal leukoencephalopathy Toxic leukoencephalopathy Leukoencephalopathy with vanishing white matter Leukoencephalopathy with neuroaxonal spheroids Reversible posterior leukoencephalopathy syndrome Megalencephalic leukoencephalopathy with subcortical cysts .
Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). Primary hypoalphalipoproteinemia-2 (618463) is caused by mtation in the APOA1 gene (107680) on chromosome 11q23.
Familial HDL deficiency is a rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. This condition is caused by changes in the ABCA1 or the APOA1 genes. The deficiency is passed through families in an autosomal dominant pattern. More severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease .
One case has been reported in association with Bazex syndrome (see this term). Diagnostic methods Histological features of LP pigmentosus are similar but milder than classic LP, with a lichenoid interface reaction, vacuolar change and apoptotic keratinocytes.
Lichen planus pigmentosus (LPP) is a rare form of lichen planus . It is characterized by oval or irregularly-shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic , relapsing condition with periods of worsening symptoms separated by periods of remission (decreasing or disappearing symptoms). The cause of LPP is unknown, but studies suggest it may be triggered by UV light, viral infections, or agents applied to the skin such as mustard oil and amla oil.
Less frequently associated conditions include rheumatoid arthritis, lupus erythematosus, hyperthyroidism and hypothyroidism, polycythemia rubra vera, SAPHO syndrome (see these terms). Etiology The etiology remains unknown.
Subcorneal pustular dermatosis (SPD) is a rare skin disease in which pus-filled pimples or blisters (pustules) form under the top (subcorneal) layer of the skin. It is most common in middle-aged adults (particularly women) but can develop in children. Pustules usually appear over a few hours and grow together to form round or wavy patterns. They most often form in areas where the skin may touch or rub together, such as the groin area, underarms, inside the elbows, and behind the knees. The pustules may be mildly itchy or painful, but despite being pus filled, are not infected.
You can help Wikipedia by expanding it . v t e v t e Radiation-related disorders / Photodermatoses Ultraviolet / ionizing Sunburn Phytophotodermatitis Solar urticaria Polymorphous light eruption Benign summer light eruption Juvenile spring eruption Acne aestivalis Hydroa vacciniforme Solar erythema Non-ionizing Actinic rays Actinic keratosis Atrophic actinic keratosis Hyperkeratotic actinic keratosis Lichenoid actinic keratosis Pigmented actinic keratosis Actinic cheilitis Actinic granuloma Actinic prurigo Chronic actinic dermatitis Infrared / heat Erythema ab igne ( Kangri ulcer Kairo cancer Kang cancer Peat fire cancer ) Cutis rhomboidalis nuchae Poikiloderma of Civatte Other Radiation dermatitis Acute Chronic radiodermatitis ) Favre–Racouchot syndrome Photoaging Photosensitivity with HIV infection Phototoxic tar dermatitis
INHERITANCE - Autosomal dominant NEUROLOGIC Peripheral Nervous System - Distal limb muscle weakness due to peripheral neuropathy - Distal limb muscle atrophy due to peripheral neuropathy - 'Steppage' gait - Foot drop - Decreased motor nerve conduction velocity (NCV) (less than 38 m/s) MISCELLANEOUS - Onset in first or second decade - Usually begins in feet and legs (peroneal distribution) - Upper limb involvement may occur later - Variable severity - Genetic heterogeneity (see CMT1B, 118200 ) - Allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (CHN, 605253 ) and Dejerine-Sottas syndrome (DSS, 145900 ) MOLECULAR BASIS - Caused by mutation in the early growth response-2 gene (EGR2, 129010.0002 ) ▲ Close
Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign). Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, or weight loss.
It is important to have a detailed patient history, including the parents or other relatives. [4] Typically, the parent that carries the chromosome for AMD, seems to be shorter than average. [7] [14] Monitoring the weight and height of the person affected with AMD is important. [13] Based on the person's age, they should be meeting a certain percentile to identify any issues that may be causing a stunt in growth. [4] There are five types of AMD: [4] Osebold-Remondini [15] Maroteaux [7] Grebe dysplasia [8] Du Pan syndrome [16] Acromesomelic dysplasia with genital anomalies [9] Osebold-Remondini causes shortness of limbs and hypoplasia of the second phalanges with fusion to the remaining phalanges, carpal and tarsal coalitions . [15] Maroteaux type causes severe dwarfism with a height below 120 cm. [7] This type also causes shortening of the middle and distal segments of the limbs. [7] Grebe dysplasia causes extreme abnormalities of the limb joints and limbs. [8] In this type of AMD, the hands and feet are affected the most. [8] This type primarily affects the joints in the hands and feet causing a lack of articulation . [8] Grebe dysplasia does not have any major effects on the stature . [8] Du Pan syndrome causes underdevelopment of the tissues in the fibulae , feet and hands. [16] Acromesomelic dysplasia with genital anomalies causes shortness of limbs and stature with congenital malformations of the female genital tract and male reproductive system . [9] All five types of AMD are caused by a gene mutation or receiving it from their parents. [4] The differences between the types are the different genes that are affected. ... Kyphosis is an excessive outward curvature of the spine resulting in a hunch back. [20] Treatment for this disease includes taking pain relievers and osteoporosis medications. [20] Medication for osteoporosis helps strengthen the bones to help prevent any spinal fractures. [20] Lumbar hyperlordosis is a condition that occurs when the lower back region experiences stress or extra weight. [21] This causes the lower back to become arched and creates muscle spasms or pain. [21] Treatment focuses on stretching the lower back, quads, hip flexors and strengthening the hamstrings, glutes and abdominal muscles. [21] Braces may be used to help relieve some stress or pressure on the lower back. [21] Risk factors from taking rhGH include: [19] Nerve, muscle or joint pain Edema Carpal tunnel syndrome Numbness and tingling of the skin High cholesterol Increase the risk of diabetes Other risk factors that increase the risk of having AMD include a family history of having this condition or a child born from parents who are close blood relatives. [22] Prognosis [ edit ] A person diagnosed with AMD will have a normal life expectancy. [23] With this disease, there are no chances of full recovery; it is something that the person will have for their entire life. [5] Abnormal cartilage and bone development can affect many bones in the body. [5] Long term effects include joint pain , arthritis , abnormal curvature of the spine and short stature of limbs and height. [4] [5] Epidemiology [ edit ] The prevalence for AMD is <1/1000000. [24] Nearly ten million people in the world carry the NPR2 mutated gene (Maroteaux type); only 3500 people in the entire world are affected with AMD. [23] AMD is rare and there are less than 100 reported cases. [22] AMD can be classified as skeletal dysplasia , which approximately occurs in 1 out of 5000 births. [25] This disease affects both males and females as well as any racial or ethnic group. [22] The majority of the case studies involve patients that live in Pakistan, Morocco, or Karnataka. [13] [10] [11] [26] [27] AMD does primarily begin in the first few years of life or as early as the neonatal phase, but it can affect anyone at any age. [4] [22] Current Research [ edit ] There has been a recent research study that established a new type of AMD. ... Retrieved November 10, 2020 . ^ a b "OMIM Entry - 112910 - OSEBOLD-REMONDINI SYNDROME" . www.omim.org . Retrieved 2020-11-09 . ^ a b "OMIM Entry - # 228900 - DU PAN SYNDROME; DUPANS" . www.omim.org .
Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism . The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.
The emphysema is now termed giant bullous emphysema , more commonly called vanishing lung syndrome due to the compressed parenchyma. [16] A bleb or bulla may sometimes rupture and cause a pneumothorax . [11] Stained lung tissue from end-stage emphysema. ... HRCT shows panlobular emphysema. [18] CPFE [ edit ] Combined pulmonary fibrosis and emphysema (CPFE) is a rare syndrome that shows upper-lobe emphysema, together with lower-lobe interstitial fibrosis. This is diagnosed by CT scan . [19] This syndrome presents a marked susceptibility for the development of pulmonary hypertension . [20] Pulmonary interstitial emphysema [ edit ] Main article: Pulmonary interstitial emphysema Pulmonary interstitial emphysema (PIE) is a collection of air outside of the normal air space of the pulmonary alveoli , found instead inside the connective tissue of the peribronchovascular sheaths, interlobular septa, and visceral pleura . ... Retrieved 25 July 2019 . ^ Sharma, N; Justaniah, AM (August 2009). "Vanishing lung syndrome (giant bullous emphysema):CT findings in 7 patients and a literature review". ... Retrieved 9 July 2019 . ^ Wand, O; Kramer, MR (January 2018). "The Syndrome of Combined Pulmonary Fibrosis and Emphysema - CPFE".
Patients who developed their amaxophobia after a serious traffic accident frequently develop the post-traumatic stress disorder (PTSD) that may involve experiencing intrusive thoughts or anxious dreams of the original accident and/or other typical PTSD symptoms. [5] A noteworthy part of post-accident symptomatology is the phantom brake syndrome . It is the passenger’s partly involuntary or unintended pressing the foot on the floor of the car in a reflexive attempt "to brake." This unintended behavior usually occurs in skilled drivers when they are seated as a passenger next to a less competent person who drives the vehicle as a reflexive response to potentially dangerous traffic situations. The phantom brake syndrome is particularly common in survivors of serious car accidents. [ citation needed ] Associated conditions [ edit ] Some patients who present with phobia of driving also describe features consistent with various other anxiety disorders , including panic disorder , agoraphobia , specific phobia , and social phobia . [1] The majority of survivors of serious car accidents tend to experience only the phobia of driving, but they often report generalized anxiety as a part of their post-traumatic adjustment disorder. [6] [ unreliable source ] The amaxophobia tends to be perpetuated by persistent pain caused by the car accident, and by pain related insomnia , and also by persistent post-conconcussion and whiplash symptoms caused by the accident. ... Whetstone scores were found to be also highly correlated with the post-concussion syndrome (r=.63) and moderately with whiplash symptoms (r=.46), post-accident insomnia (r=.56), ratings of post-accident pain (rs ranging from .43 to .50), and ratings of depression (r=.40) and of generalized anxiety (r=.43). ... A noteworthy part of this questionnaire is its measure of the phantom brake syndrome (the passenger’s partly involuntary or unintended pressing the foot on the floor of the car in a reflexive attempt "to brake"; this reaction is common in skilled drivers who survived car accidents when travelling in the passenger seat). [9] The article by Whetstone et al. also reviews the Automobile Anxiety Inventory (AAI) developed in Ontario by Leon Steiner. [18] [ unreliable source ] Steiner’s AAI is a 23 item questionnaire of which 18 such are scored on a dichotomous basis (1=Yes, 0=No). ... Its items evaluate physical reactions, since accident, while again in cars, related feelings, behaviors such as avoidance of car trips or the phantom brake syndrome of drivers when travelling as a passenger (reflexive pressing the foot on the floor in situations subjectively perceived as potentially dangerous).
It can be divided in several doses or administered as a continuous infusion. [1] Fludrocortisone is optional in CIRCI, and dexamethasone is not recommended. [4] Little evidence is available to judge when and how corticosteroid therapy should be stopped; guidelines recommend tapering corticosteroids when vasopressors are no longer needed. [1] [4] Corticosteroid treatment has also been suggested as an early treatment option in patient with acute respiratory distress syndrome . Steroids have not been shown beneficial for sepsis alone. [20] Historically, higher doses of steroids were given, but these have been suggested to be harmful compared to the lower doses which are advocated today. [21] In the CORTICUS study, hydrocortisone hastened the reversal of septic shock, but did not influence mortality, with an increased occurrence of septic shock relapse and hypernatremia . [18] The latter findings tempered enthusiasm for the broad use of hydrocortisone in septic shock. [4] Prior to this study, several other smaller studies showed beneficial effects of long courses of low doses of corticoid. [19] [22] [23] [24] [25] [26] [27] Several factors (such as lack of statistical power due to slow recruitment) could have led a false-negative finding on mortality in the CORTICUS study; thus, more research is needed. [5] See also [ edit ] Adrenal insufficiency Addison's disease Cortisol Hypothalamic–pituitary–adrenal axis Glucocorticoids References [ edit ] ^ a b c d e Marik PE, Pastores SM, Annane D, et al. ... PMID 12426230 . v t e Intensive care medicine Health science Medicine Medical specialities Respiratory therapy General terms Intensive care unit (ICU) Neonatal intensive care unit (NICU) Pediatric intensive care unit (PICU) Coronary care unit (CCU) Critical illness insurance Conditions Organ system failure Shock sequence SIRS Sepsis Severe sepsis Septic shock Multiple organ dysfunction syndrome Other shock Cardiogenic shock Distributive shock Anaphylaxis Obstructive shock Neurogenic shock Spinal shock Vasodilatory shock Organ failure Acute renal failure Acute respiratory distress syndrome Acute liver failure Respiratory failure Multiple organ dysfunction syndrome Neonatal infection Polytrauma Coma Complications Critical illness polyneuropathy / myopathy Critical illness–related corticosteroid insufficiency Decubitus ulcers Fungemia Stress hyperglycemia Stress ulcer Iatrogenesis Methicillin-resistant Staphylococcus aureus Oxygen toxicity Refeeding syndrome Ventilator-associated lung injury Ventilator-associated pneumonia Dialytrauma Diagnosis Arterial blood gas Catheter Arterial line Central venous catheter Pulmonary artery catheter Blood cultures Screening cultures Life-supporting treatments Airway management Chest tube Dialysis Enteral feeding Goal-directed therapy Induced coma Mechanical ventilation Therapeutic hypothermia Total parenteral nutrition Tracheal intubation Drugs Analgesics Antibiotics Antithrombotics Inotropes Intravenous fluids Neuromuscular-blocking drugs Recombinant activated protein C Sedatives Stress ulcer prevention drugs Vasopressors ICU scoring systems APACHE II Glasgow Coma Scale PIM2 SAPS II SAPS III SOFA Physiology Hemodynamics Hypotension Level of consciousness Acid–base imbalance Water-electrolyte imbalance Organisations Society of Critical Care Medicine Surviving Sepsis Campaign European Society of Paediatric and Neonatal Intensive Care Related specialties Anesthesiology Cardiology Internal medicine Neurology Pediatrics Pulmonology Surgery Traumatology
If it affects two or more nerves in different areas, it's called multiple mononeuropathy, and if it affects many nerves, it's called polyneuropathy. Carpal tunnel syndrome is an example of mononeuropathy. ... Health conditions that can cause peripheral neuropathy include: Autoimmune diseases. These include Sjogren's syndrome, lupus, rheumatoid arthritis, Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy and vasculitis. ... These are a form of autoimmune disorder called paraneoplastic syndrome. Diabetes and metabolic syndrome.
SCARB2 Action myoclonus - renal failure syndrome AR Typically presents at ages 15-25 yrs; may present w/neurologic symptoms (e.g., tremor, action myoclonus, seizures, ataxia) 2 May present w/proteinuria that progresses to renal failure AD = autosomal dominant; AR = autosomal recessive; Mat = maternal; MERRF = myoclonic epilepsy with ragged red fibers; MOI = mode of inheritance; PME = progressive myoclonic epilepsy; RRF = ragged red fibers 1. ... Action myoclonus - renal failure syndrome typically comprises a continuum of two major (and ultimately fatal) manifestations: progressive myoclonic epilepsy and renal failure; however, in some instances, the kidneys are not involved.
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities.
A number sign (#) is used with this entry because of evidence that progressive myoclonic epilepsy-1B (EPM1B) is caused by homozygous mutation in the PRICKLE1 gene (608500). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). Clinical Features Berkovic et al. (2005) reported a consanguineous Israeli Arab family in which 8 members had an early-onset form of progressive myoclonic epilepsy. Age at seizure onset was 7.3 years (range, 5 to 10 years). Five patients presented with myoclonic seizures, 1 with tonic-clonic seizures, and 2 with both. In 4 cases, the parents reported delayed walking in infancy with difficulty walking or running in childhood, consistent with ataxia, before the onset of seizures.
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy , a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus ) and tonic-clonic seizures . Episodes of myoclonus may be brought on by exercise, stress, light, or other stimuli (triggers). Over time, people with ULD develop ataxia, lack of coordination, intention tremor , and difficulty speaking (dysarthria).
As pointed out by the Marseille Consensus Group (1990), patients with Ramsay Hunt syndrome (159700) cannot be distinguished clinically from patients with Unverricht-Lundborg disease. ... Uncertainty has existed about the relationship between Unverricht-Lundborg disease, also referred to as Baltic myoclonus, and Mediterranean myoclonus, formerly considered to be a subgroup of the Ramsay Hunt syndrome. Lehesjoki et al. (1994) studied 7 phenotypically homogeneous Mediterranean myoclonus families, using DNA markers from the genetically defined EPM1 region on chromosome 21.
Wienker et al. (1979) reported a possibly X-linked form. They observed 4 affected males in 3 different sibships related through females, some of whom showed mild, variable symptoms. A fifth male in an earlier generation may have been affected. The authors suggested that kindred 10 of Vogel et al. (1965) may likewise have had an X-linked form of PME. Neuro - Progressive myoclonus seizures Inheritance - X-linked form ▲ Close
This condition, called hemolytic uremic syndrome, results in the sudden failure of the kidneys to filter waste from the blood. ... Arthritis is swelling, tenderness or pain in joints. Irritable bowel syndrome. Irritable bowel syndrome in a lifelong condition of the intestines that causes pain, cramping and irregular bowel movements. Guillain-Barre syndrome. Guillain-Barre syndrome is an immune system attack on nerves that can result in tingling, numbness and loss of muscle control.
Two individuals presented with recurrent infections and silent brain infarcts; one also had congenital nephrotic syndrome and autoimmune hemolytic anemia [Akar et al 2015]. ... Two sibs had refractory autoimmune features including nephrotic syndrome/proteinuria, bullous pemphigoid, and colitis; one also developed autoantibodies to factor VIII caused by a hypomorphic and weakly activating ZAP70 pathogenic variant [Chan et al 2016]. ... Two sibs with refractory autoimmune features including nephrotic syndrome/proteinuria, bullous pemphigoid, and colitis. ... Major histocompatibility complex (MHC) class II deficiency (also known as bare lymphocyte syndrome) (OMIM 209920) may have normal or elevated T-cell counts; however, the T cells are CD4 – /CD8 + . ... T-Cell-Negative Forms of CID in the Differential Diagnosis of ZAP70 -Related CID View in own window Disorder Gene(s) Involved Mode of Inheritance Defect Lymphocyte Phenotype T B NK ZAP70 -related CID ZAP70 AR Decreased protein expression + + + JAK3 -related SCID (OMIM 600802) JAK3 AR – + – IL7R -related SCID (OMIM 608971) IL7R AR – + + CD45 deficiency (OMIM 608971) PTPRC AR – + – ADA deficiency ADA AR Decreased protein production – – – RAG1/2 deficiency (OMIIM 601457) RAG1 , RAG2 AR – – + SCID Athabascan (OMIM 602450) DCLRE1C AR – – + X-linked SCID IL2RG XL Dysfunctional receptor – + – Omenn syndrome (OMIM 603554). Some individuals with ZAP70 -related CID can present with Omenn syndrome-like features including rash, lymphadenopathy, hepatosplenomegaly, and eosinophilia.
