title: Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.
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.
authors.affiliation: Department of Systems Medicine, Division of Dermatology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Campione
authors.affiliation: Department of Biomedicine and Prevention, Division of Medical Genetics, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Botta
authors.affiliation: Department of Systems Medicine, Division of Dermatology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Monia
authors.initials: M
authors.lastname: Di Prete
authors.affiliation: Department of Systems Medicine, Division of Neurology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Rastelli
authors.affiliation: 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.
authors.forename: Manuela
authors.initials: M
authors.lastname: Gibellini
authors.affiliation: Center for Neuromuscular and Neurological Rare Diseases S. Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152 Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Petrucci
authors.affiliation: Department of Experimental Medicine and Surgery, Division of Clinical Biochemistry, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Bernardini
authors.affiliation: Department of Biomedicine and Prevention, Division of Medical Genetics, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Department of Systems Medicine, Division of Dermatology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Bianchi
authors.affiliation: Department of Biomedicine and Prevention, Division of Anatomic Pathology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Augusto
authors.initials: A
authors.lastname: Orlandi
authors.affiliation: Department of Systems Medicine, Division of Neurology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Massa
authors.affiliation: 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: chiara.terracciano@uniroma2.it.
authors.forename: Chiara
authors.initials: C
authors.lastname: Terracciano
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019588:Aging, Premature / Q000473:pathology*; D006706:Homeostasis / Q000502:physiology; D006801:Humans; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000097:blood* / Q000150:complications / Q000473:pathology*; D009506:Nevus / Q000209:etiology / Q000473:pathology*; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000209:etiology / Q000473:pathology*; D014807:Vitamin D / Q000097:blood*; D055815:Young Adult
chemical_list: D014807:Vitamin D
keywords: Myotonic dystrophy type 1; Myotonic dystrophy type 2; Premature aging; Skin abnormalities; Vitamin D