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.
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research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Insulin Resistance and Skin Diseases
Insulin resistance may contribute to various skin diseases and treating it could improve skin health and prevent more serious conditions.
research Psychiatry, Medicine: Abortion Wars: A Half Century of Struggle, 1950-2000
Abortion access should be defended on public health grounds, and medical evaluations are crucial in psychiatric cases to avoid misdiagnosis.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
research Alopecia Areata in a Patient with WNT10A Heterozygous Ectodermal Dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Cronkhite-Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Collodion Baby Case Series: The Success of Oral Retinoic Acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Pathological Sequelae of Long-Haul COVID
Long-haul COVID can cause lasting symptoms affecting many body systems and may be linked to ongoing inflammation and immune system issues.
research Advances in Molecular Pathogenesis of Hidradenitis Suppurativa: Dysregulated Keratins and ECM Signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Msx2 Deficiency in Mice Causes Pleiotropic Defects in Bone Growth and Ectodermal Organ Formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Obesity in Adults: Position Statement of Various Polish Medical Associations
The conclusion is that obesity should be managed with a slow, balanced approach to diet and exercise, with medication and surgery as additional options, and education and access to care are important.
research Annual Convention in the Time of COVID: The 2020 Dermatology Nurses' Association Meeting
The convention discussed various skin conditions and treatments, and highlighted the importance of vaccinations for patients on immune-altering medications.
research Understanding Type 3 Innate Lymphoid Cells and Crosstalk with the Microbiota: A Skin Connection
Type 3 Innate Lymphoid Cells help maintain skin health and balance, and are involved in skin diseases and healing.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research The Good, the Bad, and the Ugly Facets of Insulin Resistance
Insulin resistance is a complex condition that can lead to many diseases and has few treatment options.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Revisiting Hyper- and Hypo-Androgenism by Tandem Mass Spectrometry
The document concludes that using LC-MS/MS for measuring androgens is more accurate than older methods, but it needs careful validation and standardized references to be most effective.
research Multi-Dermatomal Unilateral Nevus Comedonicus Along the Lines of Blaschko: A Rare Presentation
A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Polycystic Ovary Syndrome: A Comprehensive Review
The document concludes that managing PCOS involves treating symptoms and reducing long-term metabolic risks, with lifestyle changes being important.