Dermatologic Manifestations of Niemann-Pick Disease Clinical Presentation

Updated: Apr 12, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Patients with Niemann-Pick disease (NPD) type A have a progressive neurodegenerative course in infancy, and patients with Niemann-Pick disease type B have nervous system involvement that is linked to the appearance of a cherry-red macula. The amounts and the types of lipid storage in the reticuloendothelial system and the visceral organs in patients with type A and those with type B are also similar.

Niemann-Pick disease type A begins in the individual's first few months of life. Symptoms include the following:

  • Feeding difficulties

  • Abdominal enlargement within 3-6 months

  • Progressive loss of early motor skills

  • Rapid decline leading to death by the time the patient is aged 2-3 years

Biochemically, Niemann-Pick disease type B is similar to Niemann-Pick disease type A, but the symptoms are more variable. Abdominal enlargement may be detected in early childhood. Respiratory infections recur. No neurologic involvement is present.

Niemann-Pick disease type C usually affects school-aged children, but the disease may occur at any time from early infancy to adulthood. Symptoms may include the following:

  • Unsteadiness of gait, clumsiness, problems in walking

  • Difficulty in posturing of the limbs

  • Slurred, irregular speech

  • Learning difficulties and progressive intellectual decline

  • Sudden loss of muscle tone, which may lead to falls

  • Seizures

  • Tremors accompanying movement

A subclinical course of adult visceral Niemann-Pick disease type C1 appears to be rare. [6] Niemann-Pick disease type C may rarely lack neurological symptoms. This adult visceral form of Niemann-Pick disease type C is usually dominated by neurovisceral symptoms, may represent an underdiagnosed disease form, and should be considered in patients with isolated hepatosplenomegaly with foam cells in adulthood.

Niemann-Pick disease type C may be first seen with cataplexy, which may lead to its diagnosis. [4, 7] Cataplexy is rare and evident as a brief episode of bilateral loss of muscle tone with intact consciousness, triggered by a variety of strong emotions and, in particular, with unexpected laughter. The patient may develop "drop attacks" upon laughing. This inherited lipid storage disorder has considerable phenotypic variability. [8]


Physical Examination

Neurologic features include the following:

  • Mental retardation

  • Difficulty with upward and downward eye movements

  • Vertical supranuclear gaze palsy (Vertical supranuclear gaze palsy is highly suggestive of Niemann-Pick disease type C.)

  • Spasticity

  • Seizures

  • Myoclonic jerks

  • Ataxia

GI features include the following:

  • Hepatosplenomegaly

  • Jaundice

  • Hepatic failure

  • Ascites

Head, ears, eyes, nose, and throat characteristics include the following:

  • Cherry-red macular spot

  • Corneal opacification

  • Brown discoloration of the anterior lens capsule

Blood characteristics include the following:

  • Bone marrow foam cells

  • Easy bruisability

  • Anemia

Respiratory features include interstitial pulmonary infiltration. Cardiac features include coronary artery disease. Skin characteristics include nodular xanthoma. Growth characteristics include retarded physical growth.



Complications can include the following:

  • Mental retardation
  • Delayed development of physical skills
  • Blindness
  • Deafness
  • Progressive deterioration (Niemann-Pick disease [NPD] is a fatal disorder.)