Chronic actinic dermatitis
What is Chronic actinic dermatitis? Synonyms Prevalence: 1-5 / 10 000 Age of onset: Adult What are the symptoms of chronic actinic dermatitis? Very frequent symptoms Frequent symptoms Occasional symptoms Very rare symptoms
Rare Diseases
Incontinentia Pigmenti
Incontinentia Pigmenti – Introduction Synonyms Epidemiology Incidence/Prevalence Risk Factors Associated Conditions Etiology and Pathogenesis Causes Pathogenesis Molecular Genetics Clinical Pathogenesis History and Physical Clinical Presentation History Family History (FH) Physical General Physical Skin HEENT Chest Extremities Neuro Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Biopsy and Pathology Genetic Testing Management Management Overview Activity …
Gitelman Syndrome
Gitelman Syndrome – 12 Interesting Facts Introduction Background Information Etiology and Risk Factors Etiology Diagnosis Approach to Diagnosis Staging or Classification Workup History Physical Examination Laboratory Tests Table Table 1. Preliminary workup in patient with suspected Gitelman syndrome Specimen or Test Expected Result Blood Basic metabolic panel (Na, K, Cl, bicarbonate, BUN, creatinine, glucose) Hyponatremia or …
Evans Syndrome
Evans Syndrome – Introduction Definitions Types Epidemiology Who is Most Affected Incidence/Prevalence Etiology and Pathogenesis Causes Pathogenesis History and Physical Clinical Presentation History Physical General Physical Skin Cardiac Abdomen Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Blood Tests Complete Blood Cell Count Peripheral Blood Smear Direct Antiglobulin Test (Coombs Test) Other Blood Tests Imaging …
Eales Disease
Eales Disease – Introduction Synonyms Epidemiology Geographic Distribution Incidence/Prevalence Risk Factors Etiology and Pathogenesis Causes Pathogenesis History and Physical History Chief Concern (CC) History of Present Illness (HPI) Past Medical History (PMH) Physical HEENT Table 1: Fundoscopic Exam Findings Reported in 2 Studies in Patients With Eales Disease Exam Finding In Cross-Sectional Study of 50 …
Dyskeratosis Congenita
Dyskeratosis Congenita – Introduction Also Called Definitions Types Epidemiology Incidence/Prevalence Associated Conditions Etiology and Pathogenesis Causes Table 1: Genetic Mutations Known to Cause Dyskeratosis Congenita Gene Gene Product Mode of Inheritance Condition Reported Frequency of Cases DKC1 Dyskerin X-linked DC, HHS 17%-36% TINF2 TIN2 Autosomal dominant or de novo DC, HHS, RS 11%-24% TERC TERC …
Dravet Syndrome
Dravet Syndrome – 13 Interesting Facts Alarm Signs and Symptoms Basic Information Terminology Background Information Epidemiology Etiology and Risk Factors Etiology Risk Factors Risk Models and Risk Scores Diagnosis Approach to Diagnosis Diagnostic Criteria Workup History Physical Examination Laboratory Tests Imaging Studies Diagnostic Tools Differential Diagnosis Table Table 1. Differential Diagnosis: Dravet syndrome. Condition Description Differentiated by …