16 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... disorder that results ... #physicalexam #pediatrics ... #genetics #dermatology
Bleeding disorders in children

#Bleeding #Disorders #Differential #Hematology #Pediatrics #Peds
Bleeding disorders ... children #Bleeding #Disorders ... #Differential # ... Hematology #Pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... Disorder (e.g. ... DevelopmentalDelay #Differential ... #Causes #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Petechiae/Purpura - Diagnostic Algorithm. Pathophysiology: 1) Represent the passage of erythrocytes from the intravascular to extravascular
Pathophysiology: ... vasculitis) or disorders ... #Diagnosis #Dermatology ... Palpable #Algorithm #Differential
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... hallucinations - Movement disorders ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders ... - Differential ... Classification #pathophysiology ... #Hematology #Diagnosis ... #NonHodgkin #differential
Allopecia - Differential Diagnosis Framework for Hair Loss

Localized / Focal Hair Loss Pattern:
 • Scarring Alopecia:
Allopecia - Differential ... texture at bald spots ... • Hormonal disorder ... loss #alopecia #Differential ... #Diagnosis #dermatology