Dermatologic Manifestations of Niemann-Pick Disease Differential Diagnoses

Updated: Apr 12, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Also consider systemic lipid storage diseases and tuberculosis. [9]

Niemann-Pick disease type C full phenotype of NPC involves hepatosplenomegaly and neurodegenerative disease; its initial presentation in a pediatric patient may be restricted to visceral disease with laboratory data suggestive of Gaucher disease, delaying diagnosis. [10]

A mass may be evident with lipid-laden phagocytic cells infiltrating a lymph node consistent with Niemann-Pick cells. [11]

Generalized lichen nitidus was described in a child with Niemann-Pick disease type B. [12]