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This case report documents a young woman who experienced a visual field defect similar to those linked to vigabatrin use, despite treatment only with valproic acid and carbamazepine, suggestive of a possible metabolic vulnerability in certain patients with specific genetic backgrounds.

This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.

This case report describes a 12-year-old boy with congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis, highlighting the severe complications and the necessity for early intervention.

This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.

This study found that pediatric patients on valproic acid may experience hair loss due to reduced zinc and biotinidase levels within the first 3 months, with zinc depletion continuing to contribute by the 6th month.

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

This study found that ACOD1 deficiency in dermal papilla cells promotes mitochondrial dysfunction and contributes to cellular senescence in androgenetic alopecia, suggesting ACOD1 as a potential therapeutic target and 4-octyl itaconate as a promising treatment option for AGA.

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

In this study, five patients with moderate hyperprolactinemia lacked symptoms, signs, or underlying causes, leading researchers to conclude that no further investigation or therapy was needed.

This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.

This observational study aims to more accurately detect and localize Propionibacterium acnes in acne lesions by combining multiple microbiological visualization techniques, but it does not present new results on their causality to acne.

This study found that elevated beta-hydroxybutyrate levels may worsen the inflammatory immune response in alopecia areata patients and could indicate a poor prognosis with chronic hair loss.

A specific mutation in PA-PLA1α causes abnormal hair growth.

This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.

This article reports a case of rhabdomyolysis in a patient two hours after consuming the freshwater fish Mylossoma duriventre, suggesting a possible link to Haff disease from an unidentified toxin.

This review discusses the lack of long-term clinical studies on metformin's cardiovascular benefits in women with polycystic ovary syndrome, highlighting lifestyle changes as a crucial management strategy for reducing associated risks.

This case report suggests acitretin as a potential treatment for pseudoainhum, following the successful resolution of the condition in a patient with palmoplantar keratoderma and congenital alopecia.

This study found that valproic acid is effective in controlling absence seizures and can improve other seizure types, but 20% of patients experience mostly transient adverse reactions.

This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

This case report describes a 5-month-old Japanese infant with biotin deficiency, where daily oral biotin supplementation led to significant improvements in skin conditions and hair growth.

In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.

A fatty acid/protein complex in human hair helps protect it from damage.

Low dose valproic acid treatment caused hair loss in a young patient.

This case report describes a 5-year-old girl with biotinidase deficiency who had acute visual loss and gait disturbance but no typical symptoms, responding well to biotin therapy.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

In this case report, a 7-month-old girl with suspected acrodermatitis enteropathica and severe dermatitis experienced a tragic outcome despite zinc treatment, highlighting the challenges of diagnosing and managing this rare genetic disorder.