research A case of secondary diabetes mellitus associated with chronic arsenic toxicity
Chronic arsenic toxicity can cause diabetes and may not improve even with treatment.
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research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research Evaluation of some biochemical markers in alopecia areata
People with alopecia areata have different blood markers that suggest inflammation and immune system issues compared to healthy individuals.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Comprehensive characterization of keratin extracted from patients with androgenetic alopecia and healthy individuals through multimolecular spectroscopy and structural analysis
Keratin in people with androgenetic alopecia shows specific changes that could help develop new treatments.
research The role of hsa‐miR‐193a‐5p as an important factor for control of inositol in alopecia areata
hsa-miR-193a-5p may help diagnose and treat alopecia areata.
research Evaluation of Serum Homocysteine, High-Sensitivity CRP, and RBC Folate in Patients with Alopecia Areata
Patients with alopecia areata have lower RBC folate levels, especially in severe cases.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research Clinical case of delayed diagnosis of celiac enteropathy
The patient was diagnosed with celiac disease after a long delay, showing the need for better awareness and earlier detection.
research A study on clinical correlation with Hyperinsulinemia in polycystic ovary Syndrome
High insulin levels are more common and a better predictor of carbohydrate issues in women with PCOS than glucose tolerance tests.
research Pseudallescheria boydii infection associated with IgG4-related disease
research The relationship between Homeostatic Model Assessment Insulin Resistance (HOMA-IR) values and pilonidal sinus disease in female adolescents: A retrospective study
High insulin levels may increase the risk of pilonidal sinus disease in female teens.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Association between non-scarring alopecia and hypothyroidism: a bidirectional two-sample Mendelian randomization study
The study found that alopecia areata and hypothyroidism increase the risk of each other, but androgenetic alopecia and hypothyroidism do not.
research Commentary on: Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
The commentary explains that a balance of HR protein and putrescine is important for normal hair growth.
research Anti-Müllerian hormone confirms the novel classification of female functional androgenization including polycystic ovary syndrome
Anti-Müllerian hormone is a specific marker for ovarian issues in women with conditions like PCOS.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Perampanel‐induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome
A girl with Pitt-Hopkins syndrome developed curly hair as a rare side effect from the epilepsy drug perampanel.
research Pellagroid dermatitis during a ketogenic diet and anti-epileptic therapy.
A boy on a ketogenic diet and anti-epileptic drugs developed skin issues due to stopping vitamin supplements, which improved with proper supplementation.
research Pityriasis amiantacea: a clinical and histopathological investigation
Pityriasis amiantacea is likely linked to eczema-related skin changes.