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

Elena Campione, Annalisa Botta, Monia Di Prete, Emanuele Rastelli, Manuela Gibellini, Antonio Petrucci, Sergio Bernardini, Giuseppe Novelli, Luca Bianchi, Augusto Orlandi, Roberto Massa, Chiara Terracciano

Journal: Neuromuscular disorders : NMD 2018;27(2):163-169

PMID: 28065683

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Abstract

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.

Address: Department of Systems Medicine, Division of Dermatology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.; Department of Biomedicine and Prevention, Division of Medical Genetics, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.; Department of Systems Medicine, Division of Neurology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.; Department of Systems Medicine, Division of Neurology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy; Department of Experimental Medicine and Surgery, Division of Clinical Biochemistry, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.; Center for Neuromuscular and Neurological Rare Diseases S. Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152 Rome, Italy.; Department of Experimental Medicine and Surgery, Division of Clinical Biochemistry, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.; Department of Biomedicine and Prevention, Division of Anatomic Pathology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.; Department of Systems Medicine, Division of Neurology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy; Department of Experimental Medicine and Surgery, Division of Clinical Biochemistry, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy. Electronic address: [email protected].

DOI: 10.1016/j.nmd.2016.11.004

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MeSH Terms: Adult, Aged, Aged, 80 and over, Aging, Premature, Homeostasis, Humans, Middle Aged, Myotonic Dystrophy, Nevus, Skin, Skin Neoplasms, Vitamin D, Young Adult