The Phenotypic Spectrum of Dermal Findings in Anti-HMGCR Myopathy: A Case Report and Review of Literature
Ashir Mehra1, Alexander Intagliata1, Brandi French1, Manjamalai Sivaraman1, Erik Ensrud1
1University of Missouri Health Care
Objective:
  1. To describe a unique patient with a heliotrope rash in the setting of Anti-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy.

     

  2. To summarize the phenotypic spectrum of dermal manifestations associated with anti-HMGCR myopathy, which in turn may allow for earlier diagnosis and better characterization of the disease.
Background:

Anti-HMGCR myopathy is a type of idiopathic inflammatory myopathy characterized by proximal muscle weakness, elevated creatinine kinase (CK) levels, and anti-HMGCR antibodies. The disease most frequently affects women over 40 years of age that have previously used statins. The phenotypic spectrum of dermal manifestations of anti-HMGCR myopathy is yet to be elucidated and may allow for earlier diagnosis as well as provide insights into the disease characteristics.

Design/Methods:

We describe the case of a middle-aged female who was diagnosed with anti-HMGCR myopathy after she presented with 3 months of progressive proximal muscle weakness associated with a periorbital violaceous hue and edema. Our case is discussed in the context of a Pubmed-based literature review.  

Results:
Dermal involvement in anti-HMGCR myopathy is underrecognized and can be seen in >40% of patients. Most commonly, skin lesions in the form of tinea versicolor or erythema multiforme occur in the neck or back. Rarely, as in our patient, anti-HMGCR myopathy overlaps with a dermatomyositis-like rash. Patients with a concomitant dermatomyositis-like rash have been shown to have earlier onset of myopathy, lower frequency of interstitial lung disease, and a higher CK level. Pathological specimens have demonstrated key differences between patients with a concomitant dermatomyositis rash, including reduced Major Histocompatibility Complex-1 (MHC-1) expression.
Conclusions:
  1. Cutaneous stigmata are seen in more than 40% patients with Anti- HMGCR myopathy and may represent a distinct clinical subset of the disease.

     

  2. Early identification of dermal manifestations of Anti-HMGCR myopathy may aid in faster diagnosis and may unlock insights into characteristics of the disease.
10.1212/WNL.0000000000208937
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.