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

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

doi:10.1016/j.nmd.2016.11.004

Cited by 18 publications

(20 citation statements)

References 42 publications

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“…14 A recent study suggested a role for Vitamin D homeostasis in DM skin abnormalities including dysplastic nevi; an inverse correlation between Vitamin D level and the presence of dysplastic nevi was observed. 20 Our study showed no gender differences in the relative risks of BCC (HR 5 5.09 vs. 7.01, in men and women), or melanoma (3.27 vs. 1.97, in men and women) in DM1 patients. This finding is similar to those previously reported in DM1 patients from Sweden and Denmark for cancers other than that of the reproductive organs.…”

Section: Discussioncontrasting

confidence: 51%

“…The molecular mechanism underlying skin tumorigenesis in DM1 patients is still unknown, but several mechanisms have been hypothesized, including aberrant ß‐catenin accumulation via the Wnt/ß‐catenin signaling pathway, and depletion/malfunction of the RNA binding protein‐ muscleblind like splicing regulator 1( MBLN‐1 ) . A recent study suggested a role for Vitamin D homeostasis in DM skin abnormalities including dysplastic nevi; an inverse correlation between Vitamin D level and the presence of dysplastic nevi was observed …”

Section: Discussionmentioning

confidence: 99%

“…[13][14][15] Large DM registry studies from the United States, Italy and the United Kingdom have shown that cancers of the skin are the most common cancer in DM1 patients (n 5 32/781, 6/255 and 4/231, respectively) [16][17][18] ; however, comparisons of risk with that in the general population were not available. Two small studies from Italy comparing dermatological findings of DM1 patients with controls showed significantly higher frequencies of pilomatricoma, 19 dysplastic nevi, 19,20 and melanoma 19 in DM1 patients, but found contradictory results with BCC. 19,20 Similar results for pilomatricoma were reported in a single Spanish center study using patient medical records.…”

mentioning

confidence: 98%

“…Two small studies from Italy comparing dermatological findings of DM1 patients with controls showed significantly higher frequencies of pilomatricoma, 19 dysplastic nevi, 19,20 and melanoma 19 in DM1 patients, but found contradictory results with BCC. 19,20 Similar results for pilomatricoma were reported in a single Spanish center study using patient medical records. 21 No significant BCC prevalence difference between DM1 patients and controls was noted; however, DM1 patients developed BCC at a younger age than controls.…”

mentioning

confidence: 98%

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Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Wang

Pfeiffer

Alsaggaf

et al. 2017

Intl Journal of Cancer

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Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype. Follow-up started at the latest of the age at practice registration, DM1 diagnosis/control selection or January 1st 1988, and ended at the earliest of the age at first skin cancer diagnosis, death, transfer out of the practice, last date of data collection or the end of the CPRD record (October 31, 2016). During a median follow-up of 3.6 years, 35 DM1 patients and 108 matched DM1-free individuals developed a skin cancer. DM1 patients had an increased risk of skin cancer overall (HR = 5.44, 95% CI = 3.33-8.89, p < 0.0001), and basal cell carcinoma (BCC) (HR = 5.78, 95% CI = 3.36-9.92, p < 0.0001). Risks did not differ by gender, or age at DM1 diagnosis (p-heterogeneity > 0.5). Our data confirm suggested associations between DM1 and skin neoplasms with the highest risk seen for BCC. Patients are advised to minimize ultraviolet light exposure and seek medical advice for suspicious lesions.

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Section: Discussioncontrasting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 98%

mentioning

confidence: 98%

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Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Wang

Pfeiffer

Alsaggaf

et al. 2017

Intl Journal of Cancer

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“…Alopecia, usually called frontal balding, has been reported as a prominent feature of DM1, with a prevalence between 33.3 and 55% (46)(47)(48). In accordance with the previous study, we found that 40.7% of patients had frontal balding, whose prevalence is significantly higher, but not exclusive in male patients.…”

Section: Discussionsupporting

confidence: 91%

Multisystemic Impairments in 93 Chinese Patients With Myotonic Dystrophy Type 1

Wang

Cui

et al. 2020

Front. Neurol.

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Background: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease characterized by muscle weakness and multisystemic impairments, which significantly impact the quality of life. There is currently an increasing consensus on the necessity of a multidisciplinary assessment in patients with DM1, to improve the management of the disease.Methods: To analyze the prevalence and pairwise relationships between various organs involved, we performed a retrospective study by reviewing demographic and clinical information of DM1 patients including age, disease duration, clinical history, muscular impairment rating scale score (MIRS), results of blood biochemistry, electrocardiogram, echocardiography, and ophthalmologic examination.Results: Ninety three DM1 patients (60 males and 33 females), aged 34.7 ± 12.6 (mean ± standard deviation) years were recruited. Of which, two congenital cases were of maternal and paternal inheritance, respectively. In the other 91 patients, cataract was found in 44.1% of patients, followed by hypogonadism (40.8%), frontal balding (40.7%), and cardiac abnormalities (34.5%). Thyroid dysfunction and insulin insensitivity were relatively uncommon. Age (p < 0.001) is independently correlated with cataract, and MIRS correlates positively with cardiac abnormalities (p = 0.005) and frontal balding (p = 0.015). Male patients more frequently had frontal balding (Risk ratio, 3.98; 95% confidence interval, 1.493-10.611) compared with female patients. Male patients with cataract presented more frequent cardiac abnormalities (Risk ratio, 4.40; 95% confidence interval, 1.055-18.358) compared with non-cataract male patients. Hypogonadism in male patients was characterized as decreased testosterone level, accompanied by elevated levels of luteinizing hormone and follicle-stimulating hormone. Conclusions:In Chinese patients with DM1, we conclude that (1) cataract, hypogonadism, frontal balding and cardiac abnormalities are frequently observed; (2) age is an independent indicator to cataract and MIRS is the only predictor for cardiac abnormalities and frontal balding; (3) a positive correlation between ophthalmologic and cardiac impairments in male patients is found; (4) endocrine abnormalities show diverse manifestations and hormone tests are recommended; (5) particular attention should be given to patients with older age and higher MIRS score.

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Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1

Raymond

Levasseur

Mathieu

et al. 2019

Archives of Physical Medicine and Rehabilitation

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To describe and compare changes in participation over a 9-year period in women and men with myotonic dystrophy type 1 (DM1). To compare participation restrictions with available reference values from a typical aging population living in the community. Design: Descriptive longitudinal design comparing data from baseline ( 2002) with data from follow-up (2011). Setting: Neuromuscular clinic and participant's home. Participants: Adults with DM1 participated in the follow-up study (NZ115). Interventions: Not applicable. Main Outcome Measure: The Assessment of Life Habits measured participation in 10 domains of daily and social activities. The minimal clinically important difference is 0.5 on a 10-point scale for participation accomplishment level. Results: A total of 62% of participants were women, and the mean age was 52.3AE10.3 years. A decline (P<.01) was observed with increasing difficulty and assistance required in global participation (mean AE SD, À0.5AE0.9), social activities subscore (À0.6AE1.2), nutrition (À0.7AE1.4), fitness (À1.0AE1.6), personal care (À0.7AE1.2), mobility (À0.5AE1.9), community life (À0.8AE1.9), and recreation (À1.5AE3.0). More life areas are disrupted over time: 8 domains were below reference values from a population aged 55-64 years at follow-up compared with 2 domains at baseline. Satisfaction with participation remains high and stable over time. Conclusion: As disease duration increases, global participation and more daily and social domains were restricted with increasing difficulty and assistance required. Adults with DM1 showed not only age-associated but disease-specific changes in participation. Description over time of participation could improve clinical assessment and guide interdisciplinary management of DM1, leading to higher rehabilitation success. Further investigation of the factors influencing changes in participation is required to support disease management and services planning.

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

Cited by 18 publications

References 42 publications

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Multisystemic Impairments in 93 Chinese Patients With Myotonic Dystrophy Type 1

Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1

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