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This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.

This study analyzed clinical manifestations in 18 dermatomyositis patients, noting that all exhibited skin rash and variable symptoms like itching and muscle weakness, with treatment involving prednisolone and hydroxychloroquine.

This study found that systemic administration of NDP-MSH, a melanocortin receptor agonist, provided neuroprotective effects on dopaminergic nigrostriatal neurons in a mouse model of Parkinson's disease, reducing neuroinflammation and suggesting a role for regulatory T cells in these neuroprotective effects.

In this case report, a Danish family with monilethrix showed varying symptoms, diagnosed via dermatoscopy, microscopy, and gene sequencing. The study highlights that while no cure exists, oral minoxidil shows promise in a single case, and reducing hair trauma remains key for management.

This study confirms known risks of cladribine and reveals potential new safety concerns, emphasizing the need for careful monitoring for early acute toxicity.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.

This study found that nanobubble-encapsulated diclofenac with ultrasound-targeted microbubble destruction (DNBs-UTMD) can enhance the anti-tumor efficacy of Doxil® by regulating the tumor immune microenvironment, improving drug uptake, and increasing T cell responses while reducing immune-suppressive cells in the process.

This case report describes a nine-year-old girl with juvenile dermatomyositis and alopecia areata, suggesting a possible etiological link between these coexisting immune-mediated diseases, a previously unreported association.

This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This study found that dermatology patients with tattoos or piercings may have a higher risk of body dysmorphic disorder tendencies and lower acceptance of their illness.

This case report describes significant skin and oral mucosa lesions in a 19-year-old patient with cri-du-chat syndrome, highlighting their impact on her nutritional status and quality of life.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.

This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.

This case report documented the management of a 46-year-old female with Marine-Lenhart syndrome, combining antithyroids with minimally invasive sclerotherapy to achieve euthyroidism and reduce thyroid nodule size by 58%.

This study found that women with menstrual dysfunction showed higher rates of magnesium, iron, and vitamin D deficiencies compared to women with normal menstrual function.

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.

This case study presented a 16-year-old male with dermatosis neglecta and obsessive-compulsive disorder, where his skin condition improved after proper cleansing and psychiatric treatment, suggesting that DN may also indicate underlying psychiatric issues.

This review outlines strategies for preventing, identifying, and managing complications related to current MS therapies and reports no new clinical results, emphasizing the growing complexity in MS treatment regimens.

This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

In this study, researchers found that mogamulizumab-associated rashes and alopecia are common in patients treated for mycosis fungoides and Sézary syndrome and may be linked with a good treatment response.

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.