Both subtypes are autosomal recessive disorders, meaning that a mutant allele must be inherited from both parents in order to cause disease.Subtype I: Neutral Lipid Storage Disease with Myopathy (NLSD-M), is caused by a mutation in the PNPLA2 gene, which reduces the normal expression orfunction of the ATGL protein. PNPLA2 is located on chromosome 11. ATGL is an enzyme involved in catabolism of triglycerides (long-term fat storage) into fatty acids (short-term fat storage) within the body In the absence of fully functional ATGL, triglycerides accumulate in the bloodstream and bodily tissues. Interestingly, individuals with NLSD are not typically obese. It has been proposed that the assimilation, rather than degradation of triglycerides is the main factor in fat accumulation in adipose cells. In the absence of functional ATGL, triglycerides accumulate in the bloodstream and bodily tissues. Interestingly, individuals with NLSD are not typically obese. It has been proposed that the assimilation, rather than degradation of triglycerides is the main factor in fat accumulation in adipose cells. Patients with NLSD-M display progressive skeletal myopathy and severe cardiomyopathy in ~40% of cases. The pathophysiology and mechanistic basis of myopathy arising from deficits is lipid metabolism is not yet known.Subtype II:  Neutral Lipid Storage Disease with Ichthyosis (NLSD-I), or Chanarin-Dorfman syndrome, is caused by a mutation in the CGI-58 protein. CGI-58 is a coactivator of ATGL, and together these proteins sustain blood lipid levels between meals.
Treatment for the ichthyosis is limited; moisturizers are commonly used to help manage dry, flaky, itchy skin. Epidemiology
The rarity and likely under-diagnosis of neutral lipid storage disease prevents an accurate epidemiological estimate of its frequency in human populations. Fewer than 100 cases of NLSD have been reported  since the first case of two women with nonbullous ichthyosiform erythroderma was reported in 1974 by Maurice Dorfman. Many (but not all) of the cases reported since 1974 were in individuals of Middle Eastern.descent. A possible reason for the elevated rates of occurrence may be the higher frequency of consanguineous marriages in these populations, as opposed to an elevated frequency of carriers. Males and females are equally likely to be diagnosed with the disease. Genetic testing in families with a history of this disorder may be recommended. History
Lipid inclusions in the leukocytes of blood smears were first articulated by G.H. Jordans in 1953.This is a feature of the disease, but he wasn’t necessarily finding the first case of the NLSD disease  Now, having lipid deposits in the white blood cells of the individual is known and recognized as Jordan’s anomaly, due to the medical professional who discovered it. The first case of Neutral Lipid Storage Disease was reported by Maurice Dorfman when he treated two sisters with non bullous ichthyosiform erythroderma in 1974. His observations were then able to be confirmed with the emergence of other cases. Since then, less than 100 cases as of have been reported. See also
List of cutaneous conditions

References
External links
NIH
GARD