15 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... scrotum & enlarged penis ... may look like a penis ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Reactive Arthritis
 • Inflammation of joints (commonly large joints)
    - Asymmetric Oligoarthritis: Joint
pustules of the glans penis ... ReactiveArthritis #pathophysiology ... #diagnosis #signs
Papulosquamous Skin Rash - Differential Diagnosis Algorithm
Erythrematous or violaceous papules & plaques with overlying scale
 •
Auspitz sign, Koebner's ... genitals (especially penis ... Rosea - Oval, tannish-pink
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology
Positive Throckmorton sign in a case of chronic osteomyelitis of the left hip. X-ray findings:
1) complete
Positive Throckmorton sign ... femur Throckmorton sign ... as John Thomas sign ... refers to when the penis ... #Throckmorton #Sign
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign ... #Keratoconus #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
Rheumatoid arthritis (RA): Extra-articular manifestations
Skin: 
 • Inflammation of skin (esp. over areas of stress) forms
RA inflammation tends ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs