research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
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research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research THE OCCURRENCE OF DISCOID LUPUS ERYTHROMATOSUS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS, WITH OVERLAPPING ANCA-ASSOCIATED VASCULITIS, AND RHEUMATOID ARTHRITIS PRESENTING AS PAPULAR-PURPURIC GLOVE AND SOCK SYNDROME
A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
research Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome
Older patients with Cushing's syndrome often have different symptoms and treatment outcomes compared to younger patients.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research The 2018 Revision to the Process of Care Model for Evaluation of Erectile Dysfunction
The 2018 update to the ED care model added a new severity score and stressed a detailed evaluation of both physical and psychological aspects.
research Suppression of eukaryotic initiation factor 4E prevents chemotherapy-induced alopecia
Suppressing eIF4E can prevent hair loss from chemotherapy.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Peroxisome proliferator-activated receptor-γ signalling protects hair follicle stem cells from chemotherapy-induced apoptosis and epithelial–mesenchymal transition
Activating PPAR-γ signalling can protect hair follicle stem cells from damage caused by chemotherapy.
research Central Centrifugal Cicatricial Alopecia in the Adolescent Population: An Overview of Available Literature
CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
research Glycogen phase separation drives macromolecular rearrangement and asymmetric division in E. coli
Glycogen helps E. coli cells divide unevenly and organize their contents.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research The influence of ESR1 polymorphisms on selected hormonal, metabolic and mineral balance markers in women with hyperandrogenism
Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
research Adolescent Polycystic Ovary Syndrome
Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.
research Prescription Appropriateness of Cyproterone Acetate/Ethinylestradiol in Primary Care: A Population-Based Study in Italy
The study found that prescribing patterns for Cyproterone Acetate/Ethinylestradiol in Italy did not significantly change after EMA recommendations.
research Development of a Novel Penetration-Enhancing Agent for Hair Products
HAIRCARECUBE TM (HCC) helps hair products work better by getting active ingredients deeper into the hair.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research The protoporphyrin IX dimethyl ester incorporated soy lecithin for photoinactivation of fluconazole-resistant Candida albicans
research Do Sexual Orientation Change Efforts (SOCE) increase suicidal risk for sexual minorities?: An exchange
Participating in Sexual Orientation Change Efforts may increase the risk of suicide for sexual minority individuals.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Das idiopathische chronische Telogeneffluvium der Frau
Idiopathic chronic telogen effluvium in women causes sudden hair loss without a known cause, often linked to emotional distress.
research The secretory clear cell of the eccrine sweat gland as the probable source of excess sweat production in hyperhidrosis
Eccrine sweat gland's clear cells likely cause excessive sweating in hyperhidrosis.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research Toxic Epidermal Necrolysis
Toxic epidermal necrolysis is a severe skin condition often caused by drugs, with complex treatment and a high risk of death, but survivors usually heal without scars.
research When one size does not fit all: Reconsidering PCOS etiology, diagnosis, clinical subgroups, and subgroup-specific treatments
Different types of PCOS need specific diagnosis methods and treatments.