research Myotonic Dystrophy—A Progeroid Disease?
This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
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research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
research Three cases of androgen‐dependent disease associated with myotonic dystrophy
This study describes three female cases of androgen-dependent diseases in myotonic dystrophy, suggesting that peripheral androgen response, rather than serum levels, may drive such conditions.
research Skin features in myotonic dystrophy type 1: An observational study
This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
research Late presentation of myotonic dystrophy
This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
research Cellular Senescence and Aging in Myotonic Dystrophy
This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
This case report describes the first known instance of a patient with myotonic dystrophy presenting with type I diabetes, Hashimoto’s thyroiditis, and follicular variant papillary thyroid cancer, suggesting a potential link between these conditions.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
In this case report, the researchers highlight a possible association between myotonic dystrophy type 1 and multiple tongue hemangiomas, and emphasize that patients with this condition can experience exacerbated respiratory muscle weakness and risk of respiratory failure even with epidural anesthesia.
research Myotonic dystrophy type 1
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
research Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis
This meta-analysis reported no significant improvement in muscle strength or mobility with glucocorticoid treatment for progressive muscular dystrophy but observed an increase in adverse effects like acne and emotional irritability.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
This review compiles current research on the role of long non-coding RNAs in regulating muscle growth and regeneration processes, particularly their influence on Duchenne muscular dystrophy, and reports no new clinical results.
research A failure to relax.
This case study describes a 31-year-old man with myotonia and a history of hypertrophic cardiomyopathy and androgenic alopecia, who presented with arm and leg weakness.
research Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?
In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
research Optimal Management of Hair Loss (Alopecia) in Children
This review discusses various pediatric hair loss conditions and treatments, highlighting the importance of a holistic approach and noting that no single treatment is universally effective.
research Ptosis in childhood
This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
research Atypical Pediatric Presentation of Pilomatricoma
This case study describes a 4-year-old boy whose neck tumor was initially misdiagnosed as scrofuloderma before being correctly identified as a pilomatricoma, underscoring the need to include pilomatricoma in differential diagnoses for persistent skin lesions.
research Eyelid Pilomatrixomas: A Case Report and Comprehensive Literature Review
This review synthesizes existing research on eyelid pilomatrixomas, highlighting the challenges in diagnosis and the importance of understanding their presentation and management strategies.
research Pilomatrixoma of the Forearm in an Elderly Male
This study presented an elderly male with a nodular lesion diagnosed as pilomatricoma and discussed the value of diagnostic tools like dermoscopy and high-frequency ultrasonography, encouraging clinicians to consider pilomatricoma in differential diagnoses of nodular lesions across all ages.
research Pilomatricoma in the neck of an adult male
This article describes a case of pilomatricoma in a 22-year-old male with successful surgical excision and no recurrence, highlighting its histopathological features and typical clinical presentation.
research Conditions simulating androgenetic alopecia
This review examines various conditions that resemble androgenetic alopecia, analyzing their pathogenesis and highlighting the difficulties they pose for accurate diagnosis and treatment; it reports no clinical results.
research Androgens and Cardiovascular Disease
This review discusses the role of androgens in the progression of cardiovascular disease and explores novel therapeutic targets without reporting new clinical results.
research Androgen Receptor Polymorphisms (CAG Repeat Lengths) in Androgenetic Alopecia, Hirsutism, and Acne
This study found that shorter CAG-repeat lengths in the androgen receptor may be associated with the development of androgen-mediated skin disorders like androgenetic alopecia, acne, and hirsutism in both men and women.
research K channel therapeutics at the bedside
This article reviews the therapeutic potential of potassium channel openers for various conditions related to metabolic distress but does not report new clinical results; it emphasizes the need for further research.
research Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male
This article reviews the coordination of the hypothalamic-pituitary-gonadal axis, male fertility, and therapies for hypogonadism, but reports no new clinical findings.