Rare Diseases

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 …

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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 …

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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 …

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Dermal Melanocytosis

Dermal Melanocytosis – Introduction Synonyms Definitions Types Epidemiology Who Is Most Affected Incidence/Prevalence Associated Conditions Etiology and Pathogenesis Causes Pathogenesis History and Physical History Chief Concern Physical Skin HEENT Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Treatment Treatment Overview Surgery and Procedures Table 1: Types of Q-switched (QS) Lasers for Treatment of Nevus of …

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Dercum Disease 

Dercum Disease – Introduction Types Also Called Epidemiology Who Is Most Affected Incidence/Prevalence Associated Conditions Etiology and Pathogenesis History and Physical Clinical Presentation Physical Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Management Management Overview Medications Surgery and Procedures Liposuction Dermolipectomy Other Management Complications Prognosis Prevention and Screening Guidelines and Resources Guidelines Review Articles MEDLINE …

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Darier Disease 

Darier Disease  Introduction Also Called Epidemiology Incidence/Prevalence Risk Factors Associated Conditions Etiology and Pathogenesis Causes Pathogenesis History and Physical Clinical Presentation History History of Present Illness (HPI) Medication History Past Medical History Family History (FH) Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Biopsy and Pathology Genetic Testing Other Diagnostic Testing Management Management Overview Conservative …

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Charles Bonnet Syndrome 

Charles Bonnet Syndrome – 21 Interesting Facts Introduction Synonyms Definitions Epidemiology Who Is Most Affected Incidence/Prevalence Risk Factors Etiology and Pathogenesis Causes Pathogenesis History and Physical History Chief Concern (CC) History of Present Illness (HPI) Medication History Past Medical History (PMH) Family History (FH) Social History (SH) Physical HEENT Neuro Diagnosis Making the Diagnosis Differential Diagnosis …

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