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This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This study found that DNA methylation and histone modification status were altered in peripheral blood mononuclear cells of patients with alopecia areata, suggesting these changes may contribute to the disease's pathological immune responses.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

Mink use L-methionine and L-cystine slightly better than natural amino acids for hair growth, but D-methionine is not effective.

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 case report details a patient with myasthenia gravis and a malignant thymoma whose rising liver function tests, initially thought to be related to antibiotic use, were ultimately attributed to thymoma-associated multiorgan autoimmunity.

This study describes a method to estimate endogenous hormone production by neutralizing an endogenous hormone with an oppositely acting hormone.

This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.

In this case report, a 33-year-old male with symptoms resembling Neuromyelitis Optica was treated with 10 mg biotin daily, which may reverse certain ophthalmologic and myelopathy findings. The researchers emphasize the need for further research on biotinidase deficiency in patients misdiagnosed with similar conditions.

This study analyzed pediatric and adult patients with antibody deficiencies at a PID center, finding frequent severe infections and genetic mutations, with treatment primarily involving IVIG replacement therapy.

This case study reported that a 40-year-old woman with Graves' disease developed severe thrombocytopenia after starting methimazole, suggesting a rare but serious risk of methimazole-induced immune thrombocytopenia and underscoring the need for close monitoring.

In this study, 27 pediatric patients with alopecia areata treated with methotrexate showed statistically significant improvement in hair regrowth between 12-15 months, suggesting the medication's delayed but effective results, though common side effects included mood changes and gastrointestinal discomfort.

This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.

In this study, mouse models of 22q11.2 deletion syndrome showed that growth issues in small embryonic thymuses were linked to mesenchymal cells, which could be corrected by substituting with normal mesenchyme.

This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This study concluded that while methotrexate-related adverse events were infrequent in early rheumatoid arthritis patients taking adalimumab, some increased with higher methotrexate doses, suggesting use of the lowest effective dose.

This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.

A missing mK6irs1 gene causes hair loss in mice.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

The authors reviewed cases of six children with both hair-shaft abnormalities and neurological disorders, noting that such hair defects may indicate neurological conditions, including potentially treatable metabolic errors.

In this study, females with 5 alpha-reductase-2 deficiency exhibited decreased body hair, normal sebum production, and delayed menarche, suggesting a role for DHT in hair growth and menstrual function.

This review provides an overview of biotin's role in metabolism and the consequences of deficiency but reports no new clinical findings; it highlights that intestinal bacteria usually meet biotin needs.

This case report describes an isolated DHEA-S secreting adrenocortical carcinoma in a 52-year-old woman who presented without typical hyperandrogenic symptoms.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.

In this case study, a 12-year-old boy with a restricted diet exhibited symptoms of scurvy, including leg weakness and bruising, which improved following treatment with vitamin C and B12 supplements, highlighting the impact of severe vitamin deficiencies on health.

This retrospective study found that methotrexate had variable efficacy in treating severe alopecia areata in children, with successful hair regrowth observed in five out of thirteen assessable cases.

This study reviewed literature on pediatric acrodermatitis enteropathica and found that zinc deficiency occurred in 75.9% of cases, with zinc supplementation showing therapeutic efficacy in 91.4% of patients; however, it was often ineffective in those with underlying metabolic disorders.