Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis

Neuromuscul Disord. 2017 Feb;27(2):163-169. doi: 10.1016/j.nmd.2016.11.004. Epub 2016 Nov 16.


Skin changes have been described in myotonic dystrophy type 1 (DM1). However, whether and in which way skin is a target of specific disease alterations in DM1 and DM2 has not been yet clarified. This study aims to explore cutaneous features of DM1 and DM2 patients. Skin examination was performed in 60 DM1, 15 DM2, and 103 control, unselected patients by means of dermoscopy. It revealed quantitative and qualitative abnormalities of nevi and typical signs of premature aging in both DM1 and DM2 patients, with a significantly higher frequency of dysplastic nevi, alopecia, xerosis and seborrheic dermatitis. Twenty-eight nevi were excised in DM patients and none showed histological features of melanoma, although 12 of them were diagnosed as dysplastic and the remaining 16 presented histological irregularity in melanin distribution. In DM1 patients, the number of nevi correlated with CTG expansion size, whereas the presence of dysplastic nevi and xerosis inversely correlated with vitamin D levels. DM1 and DM2 patients display a high frequency of skin abnormalities, the most common of which correlate with genotype severity and serum vitamin D levels. Skin examination is highly informative in these patients and reveals features suggestive of premature aging and impaired vitamin D homeostasis.

Keywords: Myotonic dystrophy type 1; Myotonic dystrophy type 2; Premature aging; Skin abnormalities; Vitamin D.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aging, Premature / pathology*
  • Homeostasis / physiology
  • Humans
  • Middle Aged
  • Myotonic Dystrophy / blood*
  • Myotonic Dystrophy / complications
  • Myotonic Dystrophy / pathology*
  • Nevus / etiology
  • Nevus / pathology*
  • Skin / pathology*
  • Skin Neoplasms / etiology
  • Skin Neoplasms / pathology*
  • Vitamin D / blood*
  • Young Adult


  • Vitamin D