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This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.

This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.

This article reviews the clinical features, pathogenesis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing the need for enhanced understanding and early diagnosis, but reports no new research findings.

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.

This study found that the JMJD3/NF-κB-Notch1 pathway plays a crucial role in regulating keratinocyte migration and skin wound healing, with Notch1 affecting key genes involved in cell migration.

This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.

In this study, researchers found that the JAK1/2 inhibitor ruxolitinib helped normalize tissue-specific autoimmunity in APECED patients by reducing inflammation and immune cell accumulation, but it was also linked to subclinical side effects like anemia and weight gain.

This case study describes a 15-year-old girl with pulmonary Crohn's disease diagnosed via endoscopy, highlighting the potential for endobronchial changes in children with this condition.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.

This study investigated immune dysregulation in individuals with Down syndrome and found that treatment with the JAK inhibitor tofacitinib improved skin conditions like alopecia areata and reduced autoimmune markers without severe side effects. Additional research is necessary to understand its broader impacts.

This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.

This case report details a rare instance of granulomatosis disciformis chronica et progressiva affecting both skin and lymph node tissue in a 31-year-old man.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

In this case report, a 21-year-old woman diagnosed with ACTH-independent Cushing syndrome showed improvement in symptoms, including a more regular menstrual cycle and lower hirsutism, after starting treatment with ketoconazole, although she developed hypertension.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This case report describes a patient with Cronkhite–Canada syndrome, where immunosuppression and nutritional support led to disease remission.

This study used histopathological and ultrastructural analyses to differentiate between junctional epidermolysis bullosa and dermatomyositis-like disease in two juvenile dogs with skin disorders.

This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.

This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.

This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.

This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.

In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.

This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.