14 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
Disorders of Pigmentations - Hypopigmentation and Hyperpigmentation - Differential Diagnosis Algorithm

HYPOPIGMENTATION
Diffuse Congenital - Generalized hypopigmentation of
Disorders of Pigmentations ... Hyperpigmentation - Differential ... Diagnosis Algorithm ... #Diagnosis #Algorithm ... #causes
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds #
Skin Hypopigmentation - Differential Diagnosis Algorithm

Diffuse Congenital - Generalized hypopigmentation of hair, eyes, skin
 • Phenylketonuria
Diagnosis Algorithm ... Diffuse Congenital ... • Piebaldism Diffuse ... Hypopigmentation #disorders ... #causes
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
- Differential ... Diagnosis Algorithm ... lymphadenopathy more diffuse ... involvement, irregular pattern ... #algorithm
Hair Loss (Alopecia) - General (Diffuse and Focal) Differential Diagnosis Algorithm

DIFFUSE
Scarring - Irreversible-biopsy required
 • Lupus
and Focal) Differential ... Diagnosis Algorithm ... planopilaris Pattern ... #Diagnosis #Algorithm ... #causes
Pathologic / Fragility Fractures - Differential Diagnosis Algorithm 
Tumours
 - See Bone Lesions Scheme
Paget's Disease
 -
Fragility Fractures - Differential ... Diagnosis Algorithm ... / Ricketts - Diffuse ... • Bone Marrow Disorder ... #Orthopedics #Causes
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Causes of Growth ... Gestational Age - Differential ... Diagnosis Algorithm ... >41 weeks) • Genetic ... disorder (e.g.
Allopecia - Differential Diagnosis Framework for Hair Loss

Localized / Focal Hair Loss Pattern:
 • Scarring Alopecia:
Allopecia - Differential ... Traction alopecia Diffuse ... Scaling, pustules, crusts ... • Hormonal disorder ... loss #alopecia #Differential
Skin Hyperpigmentation - Differential Diagnosis Algorithm
Diffuse:
 • Tanning
 • Adverse cutaneous drug eruption
 • Addison's disease
Hyperpigmentation - Differential ... Diagnosis Algorithm ... Diffuse: • Tanning ... Hyperpigmentation #disorders ... #causes