About a third will have a nonspecific presentation with fever, fatigue, cachexia and lassitude and this presentation is more common in people of black or Indian origin. [patient.info]

Mid-stromal clefting was present but was less prominent histopathologically (fig. 3 ). The IPE showed lacy vacuolization (fig. 4 ). [karger.com]

Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. [autoinflammatory-search.org]

Presents in teens with intermittent jaundice and hepatomegaly. Progressive shortening and thickening of the palmar fascia causing finger contracture and loss of extension of 5th finger. [quizlet.com]

Polydactyly and polysyndactyly of both pre- and postaxial types are usually present. Most neonates with SRPS type II do not live beyond infancy. [disorders.eyes.arizona.edu]

• Anorexia

  Gastritis, ascites, abdominal pain and distention, edema, anorexia, borborygmus, vomiting, cardiac pain, abdominal spasms. [acumedico.com]

  Amnestic Disorder, Amputation, Anaemia, Anaesthetic Complication Cardiac, Anaesthetic Complication Pulmonary, Anaphylactic Reaction, Anger, Angina Pectoris, Angiogram Cerebral Abnormal, Angioneurotic Oedema, Angiopathy, Angioplasty, Angle Closure Glaucoma, Anorexia [bonkersinstitute.org]

  Amenorrhea Ankylosing spondylitis Aplastic anemia, Amnesia Anorexia nervosa Appendicitis, Amyloidosis Anorgasmia ARDS, Amyotrophic lateral sclerosis Anthrax Arteriosclerosis / atherosclerosis, Anal cancer Antibiotic-associated diarrhea Arteriovenous fistula [sites.google.com]

  Nausea, abdominal pain, anorexia, diarrhea (may be bloody). [43] Splenomegaly; lymphadenopathy. [43] 45% have arthralgias and/or arthritis–often the knees and/or ankles, but other joints can be affected. [autoinflammatory-search.org]

  Persistent anorexia with recent weight loss and current weight meeting the values in 5.08, table III or IV; OR 7. [secure.ssa.gov]

• Weight Gain

  Below Normal, Weight Decreased, Weight Gain Poor, Weight Increased, Wheezing, White Blood Cell Count Decreased, White Blood Cell Count Increased, White Blood Cell Disorder, Wolff-Parkinson-White Syndrome, Wound Secretion, Wrong Drug Administered, Wrong [bonkersinstitute.org]

  gain, arrhythmia Nortriptyline 10-150 mg Similar to amitriptyline but less sedating Imipramine 10-300 mg Similar to amitriptyline but less sedating Desipramine 10-300 mg Similar to amitriptyline but least sedating Duloxetine 60-120 mg Nausea, dry mouth [clevelandclinicmeded.com]

• Collapse

  Clears the brain and restores collapsed Yang, regulates the heart. [acumedico.com]

  Ceruloplasmin Decreased, Cheilitis, Chest Discomfort, Chest Pain, Childhood Psychosis, Chills, Choking, Cholecystitis Acute, Cholelithiasis, Cholestasis, Chorea, Choreoathetosis, Chromaturia, Chromosomal Deletion, Chromosome Abnormality, Circulatory Collapse [bonkersinstitute.org]

• Pseudotumor

  Plantar fasciitis Polymorphous light eruption Precocious puberty, Plantar warts Polymyalgia rheumatica Prediabetes, Pleurisy Polymyositis Preeclampsia, Pneumonia Poor color vision Pregnancy & Fertility Prehypertension Primary lateral sclerosis (PLS) Pseudotumor [sites.google.com]

• Respiratory Distress

  Another condition with some of the same features leading to respiratory distress is asphyxiating thoracic dysplasia 1 ( 208500 ), or Jeune syndrome. [disorders.eyes.arizona.edu]

  Acidosis, Respiratory Arrest, Respiratory Depression, Respiratory Disorder, Respiratory Failure, Respiratory Rate Increased, Restlessness, Resuscitation, Retching, Reticulocyte Count Decreased, Reticulocyte Percentage Decreased, Retinal Detachment, Retinal [bonkersinstitute.org]

  Non-infectious conjunctivitis may be caused by DIRA. [15] [16] Some with respiratory distress. One known case of pulmonary hemosiderosis with progressive interstitial fibrosis. [15] [16] [17] DIRA patients rarely have gastrointestinal issues. [autoinflammatory-search.org]

• Abdominal Pain

  The enlarged spleen often leads to abdominal pain and the organ may have to be removed. Patients often complain of abnormal sweating and intermittent skin rashes. Recurrent migraine headaches are common. [disorders.eyes.arizona.edu]

  Gastritis, ascites, abdominal pain and distention, edema, anorexia, borborygmus, vomiting, cardiac pain, abdominal spasms. [acumedico.com]

  Nausea, vomiting and abdominal pain with flares, or with elevated intracranial pressure (ICP). [6] Splenomegaly. Many have generalized lymphadenopathy. [1] Joint pain, knee valgus or varus, limb length differences are common. [autoinflammatory-search.org]

  GN, arthiritis and abdominal pain. Triad of miosis (constriction), partial ptosis +enopthalmos (sunken) and anhidrosis (ipsilateral loss of sweating). Interruption of cranial sympathetic supply. [quizlet.com]

  Abasia, Abdominal Discomfort, Abdominal Pain, Abdominal Pain Upper, Abnormal Behaviour, Abnormal Dreams, Abortion Induced, Abortion Spontaneous, Abscess Drainage, Abscess Limb, Acanthosis Nigricans, Acarodermatitis, Accident, Accidental Death, Accidental [bonkersinstitute.org]

• Loss of Appetite

  At risk for a loss of appetite. [58] [60] One infant patient noted with failure to thrive and diarrhea. [63] Risk for renal and liver impairment and systemic infection with severe flares. [58] [61] Asthenia (muscle weakness) during fevers and flares. [autoinflammatory-search.org]

  Chest heavy, dyspnea, pleurisy, bronchitis, cough, diaphragm spasm, loss of taste and smell, loss of appetite, feet perspiration. Feet perspiration. St-18 Rugen Breast's Root [ The meridian Regulates the chest and breast Qi, facilitates lactation. [acumedico.com]

• Xerostomia

  Xerophthalmia (dry eyes) and xerostomia (dry mouth) are the main clinical presentations in adults. Bilateral parotid swelling is the most common sign of onset in children. [emedicine.medscape.com]

• Dermatitis

  […] disorder), Congenital heart disease in adults Cough headaches Cystic fibrosis, Conjoined twins Cradle cap Cystitis, Constipation Craniosynostosis Cystocele, Constipation in children Creutzfeldt-Jakob disease Cytomegalovirus (CMV) infection, Contact dermatitis [sites.google.com]

  Allergic, Dermatitis Bullous, Dermatitis Contact, Detoxification, Developmental Delay, Diabetes Mellitus, Diabetes Mellitus Insulin-Dependent, Diabetes Mellitus Non-Insulin-Dependent, Dialysis, Diarrhoea, Diarrhoea Haemorrhagic, Diastolic Dysfunction [bonkersinstitute.org]

  Dermatitis factitia (698.4). f. Bullous dermatoses (694), such as Dermatitis Herpetiformis, pemphigus, and epidermolysis bullosa. g. Chronic Lymphedema (457). h. [endusmilitarism.org]

  If the condition persists, it may lead to demonstrable structural changes (e.g., peptic ulcer, bronchial asthma, dermatitis). b. Neurotic disorders (e.g., anxiety, depressive, hysterical, obsessive-compulsive, and phobic neuroses). [secure.ssa.gov]

  Cutaneous symptoms Nonvasculitic cutaneous manifestations in Sjögren syndrome include the following [33] : Dryness Eyelid dermatitis Pruritus Erythema annulare Cutaneous vasculitis, such as palpable purpura, develops in some patients with Sjögren syndrome [emedicine.medscape.com]

• Dry Skin

  Bleeding, Skin Discolouration, Skin Disorder, Skin Inflammation, Skin Injury, Skin Irritation, Skin Laceration, Skin Lesion, Skin Odour Abnormal, Skin Ulcer, Skin Warm, Skull Fracture, Sleep Apnoea Syndrome, Sleep Disorder, Sleep Talking, Sleep Terror [bonkersinstitute.org]

  […] macular degeneration Dust mite allergy, Double uterus Dry mouth Dwarfism, Down syndrome Dry skin Dysarthria, Dressler's syndrome Dry socket Dyshidrosis, Drug addiction Ductal carcinoma in situ (DCIS) Dyslexia, Drug allergy Dumping syndrome Dysthymia, [sites.google.com]

  All afflictions of shoulder joint and muscles, hemiplegia, excessive perspiration, goiter, scrofula, dry skin, spermatorrhea. Li-4/ Li-11/ Li-15 = Arm and shoulder diseases, Li-5/ Li-15 = wind rash. Spermatorrhea. [acumedico.com]

• Lacrimation

  Benign persistent swelling of lacrimal and parotid glands due to lypmhocytic invasion. Rule of sarcoid, TB etc. AD Primary congenital lymphoedema Vivid liars who are addicted to institutions, flitting from hospital to hospital feigning illness. [quizlet.com]

  St-8/ B-2 = frontal headache, dizziness, excessive lacrimation, photofobia. St-9 Renying Men's Welcome [ The meridian Window of the sky point, Sea of energy. [acumedico.com]

  Lymphocytic infiltration and enlargement of the lacrimal glands: a new subtype of primary Sjögren's syndrome?. Ophthalmology. 2005 Nov. 112(11):2040-7. [Medline]. Bacman S, Perez Leiros C, Sterin-Borda L, Hubscher O, Arana R, Borda E. [emedicine.medscape.com]

  Inflamed conjunctiva (conjunctivitis), and/or inflammation of the lacrimal glands, retina and optic nerves is common. [34] Some have atrial hypertension and/or pericarditis. [autoinflammatory-search.org]

• Diplopia

  Proptosis, diplopia, choroidal folds, cranial nerve palsies and optic nerve involvement have been reported (Knapp et al.). [healio.com]

  Contact, Detoxification, Developmental Delay, Diabetes Mellitus, Diabetes Mellitus Insulin-Dependent, Diabetes Mellitus Non-Insulin-Dependent, Dialysis, Diarrhoea, Diarrhoea Haemorrhagic, Diastolic Dysfunction, Difficulty In Walking, Dilatation Atrial, Diplopia [bonkersinstitute.org]

  Ocular mobility and motility. (1) Diplopia (386.2), documented, constant or intermittent. (2) Nystagmus (379.5). (3) Strabismus (378), uncorrectable by lenses to less than 40 diopters or accompanied by diplopia. (4) Strabismus, surgery (P15) for the correction [endusmilitarism.org]

• Stroke

  Stroke/TIA. Ear, nose and throat Salivary gland dysfunction. Nosebleeds, nasal obstruction. Others Lymphatic (evidence of hypersplenism). Sarcoidosis can be associated with increased incidence of lymphoma [ 1 ]. Hypercalcaemia. Nephrolithiasis. [patient.info]

  Some patients do not have strokes. [131] Possible adult stroke risk. [autoinflammatory-search.org]

  Tumours, stroke and MS. AD STK11 mutation in TSG. Hamartous GI polyps. GI ca risk up 15x. Spinal TB. Rare in West. Usually from external source e.g lungs. Peripheral digital ischemia due to paroxysmal vasospasm. [quizlet.com]

  ~ with Rheumatoid Arthritis Splint Care Tips Splinter Removal Stage 4 Lung Cancer (Alk) Stevens Johnson Syndrome Stress Management Stroke Subcortical Dementia Subcortical Ischemic Vascular Disease Sub endocardial Sclerosis Substance Abuse, Teen Sucrose [en.mimi.hu]

  Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Phone: (301) 495-4484 Toll-free: (877) 226-4267 Email: [email protected] Website: http://www.niams.nih.gov/ NIH/National Institute of Neurological Disorders and Stroke [rarediseases.org]

• Paresis

  Hypogonadism, Hypokinesia, Hypomagnesaemia, Hypomania, Hyponatraemia, Hyporeflexia, Hypotension, Hypothermia, Hypothyroidism, Hypotonia, Hypotonia Neonatal, Hypotrichosis, Hypoxia, Iatrogenic Injury, Idiopathic Thrombocytopenic Purpura, Iiird Nerve Paresis [bonkersinstitute.org]

  Transient neurological defict (paresis) after a siezure. Necrotizing ulcerative gingivitis. Mouth infection with ulcerative gingivitis. Von Hippel-Lindau syndrome AD. Germline mutation in TSG. [quizlet.com]

  Infectious diseases. (1) Meningitis (322), encephalitis (323), or poliomyelitis (045) within 1 year before examination, or if there are residual neurological defects. (2) Neurosyphilis (094) of any form, general paresis, tabes dorsalis meningovascular [endusmilitarism.org]

  Persistent disorganization of motor function Persistent disorganization of motor function in the form of paresis or paralysis, tremor or other involuntary movements, ataxia and sensory disturbances (any or all of which may be due to cerebral, cerebellar [secure.ssa.gov]

• Cranial Neuropathy

  Sensorimotor Ethylene oxide Sensorimotor, ataxia Hexacarbons Sensorimotor Lead Sensorimotor, motor > sensory Mercury Sensorimotor, motor > sensory Organophosphorus esters Sensorimotor, autonomic (cholinergic) Thallium Sensorimotor Trichloroethylene Cranial [clevelandclinicmeded.com]

  Cranial neuropathies can develop, particularly trigeminal neuropathy or facial nerve palsy. Mononeuritis multiplex should prompt a search for a vasculitis. [emedicine.medscape.com]

  Some have cranial neuropathies. 80% have vision damage and joint deformities if untreated. Some cases have peripheral nerves affected. [34] Not noted. [34] Uveitis (some with blindness). 50% with cataracts, 1:3 patients get secondary glaucoma. [autoinflammatory-search.org]

• Burning Sensation

  It may be described as a dull aching sensation, an intense burning sensation or, occasionally, as intermittent lancinating pulses of pain. [clevelandclinicmeded.com]

• Hematuria

  […] complement C2 deficiency S erositis: pleuritis/pericarditis O ral ulcers A rthritis/synovitis (usually peripheral polyarthritis) P hotosensitivity B lood Dyscrasias: hemolytic anemia, leukopenia, lymphopenia, thrombocytopenia R enal: proteinuria, casts, hematuria [pathologyexpert.com]

  Splenic sequestration crisis Renal complications: Painless hematuria due to papillary infarcts Proteinuria and hypertension Renal infarction, papillary necrosis, and renal colic Nephrogenic diabetes insipidus that can lead to polyuria Focal glomerulosclerosis [thesullivangroup.com]

  Hematuria, proteinuria, glomerulonephritis. [97] Splenomegaly. Some with lymphadenopathy. [97] Arthralgia, arthritis. Some with relapsing polychondritis. [autoinflammatory-search.org]

  Gastritis, duodenal ulcer, dysentery, abdominal pain, abdominal masses, borborygmus, diarrhea, anorexia, vomiting, hematuria. Undigested food in the stool: REN-10/ ST-36/ ST-21/ SP-6/ BL-25/ BL-22/ DU-5. [acumedico.com]

  Hematuria, pyuria, or other findings indicative of renal tract disease (599). e. Urethral stricture (598) or fistula (599.1). f. [endusmilitarism.org]

• Urinary Retention

  retention Treatment : supportive ( i .e., urethral catheterization ) Kleine-Levin syndrome Epidemiology : mainly affects adolescent males Etiology : unknown (although viral infections have been implicated) Clinical features Recurrent hypersomnia (patients [amboss.com]

  Edema, ascites, urinary problems in general, cystitis, leucorrhea, urinary incontinence or retention, diarrhea, bi and wei syndromes, hepatitis, jaundice, nephritis, stomach ache, abdominal distention. [acumedico.com]

  Incontinence, Urinary Retention, Urinary Tract Infection, Urinary Tract Infection Enterococcal, Urine Output Increased, Urticaria, Urticaria Generalised, Urticaria Localised, Vaginal Haemorrhage, Varicose Vein, Vascular Injury, Vascular Occlusion, Vasculitic [bonkersinstitute.org]

• Kidney Failure

  […] disease with heart failure and stage 1 through stage 4 chronic kidney disease, or unspecified chronic kidney disease 2016 2017 2018 2019 Billable/Specific Code Use Additional code to identify type of heart failure ( I50 .- ) 2019 ICD-10-CM Diagnosis [icd10data.com]

  […] cysts Knee bursitis, Keratitis Kidney infection Knee pain, Keratoconus Kidney stones Krabbe disease, Keratosis pilaris Kleptomania Kyphosis, Kidney cancer Klinefelter syndrome Lactose intolerance Lice Long QT syndrome, Laryngitis Lichen nitidus Low blood [sites.google.com]

• Glycosuria

  Glycosuria. Persistent, when associated with impaired glucose tolerance (250) or renal tubular defects (271.4). d. Acromegaly. Gigantism or other disorder of pituitary function (253). e. Gout (274). f. Hyperinsulinism (251.1). g. [endusmilitarism.org]

Recurrent hypersomnia (patients are only awake for 1–2 h per day) Hyper- sexuality when awake Binge eating Treatment : supportive Prion diseases Diseases caused by prion infection. [amboss.com]

Treatment Treatment Options: No effective treatment is available for this condition but surgical treatment could be considered for specific anomalies. [disorders.eyes.arizona.edu]

Standard Therapies Treatment First-line treatment in mild cases is with nonsteroidal anti-inflammatory drugs (NSAIDs). But this is often not sufficient. In more severe cases, the standard treatment is with therapy to inhibit the cytokine IL-1. [rarediseases.org]

Treatment of hyperreactive malarial splenomegaly syndrome. Lancet. 1994 Jun 4. 343(8910):1441-2. [Medline]. Aponte JJ, Aide P, Renom M, et al. [emedicine.medscape.com]

Treatment: No treatment is very effective. As patients react to both ultraviolet and visible light, sun avoidance is helpful. [en.mimi.hu]

Diagnosis and Prognosis: Ophthalmologists and pediatrician are the most likely to make the diagnosis. However, there is no diagnostic test that would help. The prognosis for vision is poor. [disorders.eyes.arizona.edu]

Prognosis [ 1, 15 ] Although many patients have sarcoidosis which resolves spontaneously, a significant proportion of patients have chronic or progressive disease with resultant morbidity. [patient.info]

Prognosis is variable, and no standardized effective treatment programs are available except for alpha-HCD, which in its early stage may respond to antibiotics. [healio.com]

Prognosis [ edit ] Optic nerve damage is progressive and insidious. Eventually 75% of patients will develop some peripheral field defects. [en.wikipedia.org]

Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum. 2007;37:137-148. de Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, van der Meer JW. [rarediseases.org]

Clinical features Progressive paralysis Blindness Treatment : reversible (withdraw clioquinol) Elsberg syndrome Etiology : HSV-2 infection is most common but other viral etiologies ( i .e., CMV, EBV, HIV ) are possible → sacral myeloradiculitis Clinical [amboss.com]

Manifestation code identifies conditions for which it is important to record both the etiology and the symptom of the disease. [books.google.com]

Nothing is known regarding the etiology or the mechanism of disease. Treatment Treatment Options: Topical, intravitreal, oral, and subtenon application of steroids apparently have no impact on the progression of the intraocular disease. [disorders.eyes.arizona.edu]

With a systematic approach to the evaluation of these disorders, approximately 75% of patients have a specific etiologic diagnosis. [clevelandclinicmeded.com]

SMON (subacute myelo-optic neuropathy) Etiology : iatrogenic (induced by the drug clioquinol) Epidemiology : Most cases were confined to Japan in the 1960's. Oral clioquinol was removed from the market in the 1980's. [amboss.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

DISCUSSION Epidemiology and Pathophysiology Waldenstrom macroglobulinemia (WM) is a lymphoplasmacytic lymphoma characterized by malignant B cells and the accumulation of IgM monoclonal protein in the blood. [webeye.ophth.uiowa.edu]

Anterior ischemic optic neuropathy (AION) is a potential complication. [19] Epidemiology [ edit ] Optic disc drusen are found clinically in about 1% of the population but this increases to 3.4% in individuals with a family history of ODD. [en.wikipedia.org]

Epidemiology Sarcoidosis occurs worldwide, with a prevalence of about 4.7-64 in 100,000, and an incidence of 1.0-35.5 in 100,000 per year [ 1 ]. The highest rates are reported in northern European/Scandinavian and African-American individuals. [patient.info]

References: [1] [2] Adrenoleukodystrophy Inheritance : X-linked disorder Epidemiology : rare Most often manifests in young males (early childhood) Pathophysiology : : mutation of the ABCD1 gene, which encodes a peroxisomal ATP -binding cassette (ABC) [amboss.com]

Definition Pathophysiology Key History Key Physical Exam Differential Diagnosis Diagnostic Testing Treatment Complications Definition Vaso-occlusive crisis is caused by red blood cell sickling with resultant microvascular occlusion (vaso-occlusion) clinically [thesullivangroup.com]

Tedesco S, Postacchini L, Manfredi L, Goteri G, Luchetti MM, Festa A et al (2015) Successful treatment of a Caucasian case of multifocal Castleman’s disease with TAFRO syndrome with a pathophysiology targeted therapy - a case report. [link.springer.com]

Pathology findings may help us better understand the pathophysiology of the ocular abnormalities in this disorder. © 2016 S. [karger.com]

Pathophysiology [ edit ] In children, optic disc drusen are usually buried and undectectable by fundoscopy except for a mild or moderate elevation of the optic disc. [en.wikipedia.org]

Insufficient natural healthy teeth (521) or lack of a serviceable prosthesis, preventing adequate mastication and incision of a normal diet. [endusmilitarism.org]

Prevention In regions where malaria is endemic, travelers should take precautions to prevent mosquito exposure and the development of malaria, including the following: Wearing long-sleeved clothing and pants tucked into socks Using N,N-diethyl-meta-toluamide [emedicine.medscape.com]

Prevention Although sarcoidosis cannot be prevented, some preventative measures may reduce complications. For example: Influenza vaccination. Osteoporosis prophylaxis (steroid usage). [patient.info]

Laser treatment [15] [16] or photodynamic therapy [17] or other evolving therapies [18] may prevent this complication. Prognosis [ edit ] Optic nerve damage is progressive and insidious. [en.wikipedia.org]

Simple or exchange transfusion can reduce the concentration of HbS-containing RBCs to below 30 percent and can prevent or reverse the vasoocclusive process. [thesullivangroup.com]