research MON-218 Inflammatory Role of Sex Steroids in Hidradenitis Suppurativa: An Androgenic Phenotype
Sex hormones may be linked to inflammation in Hidradenitis Suppurativa.
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research News in brief
Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
research Editors' Picks
ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Neuropeptídeos na pele
Neuropeptides affect skin inflammation, repair, and hair growth, with potential for therapy.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Translational Positioning of Janus Kinase (JAK) Inhibitors in Alopecia Areata
JAK inhibitors may help treat Alopecia Areata but need careful monitoring due to side effects.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research C‐reactive protein as a novel biomarker for vitamin D deficiency in alopecia areata
High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research TERMIS ‐ AMERICAS Toronto, Ontario, Canada July 10–13, 2022
Advancements in skin treatment and wound healing include promising gene therapy, 3D skin models, and potential new therapies.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research 519 The role of the leaky gut in the development of alopecia areata
A compromised gut may trigger the autoimmune hair loss condition Alopecia Areata.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Network-Based Drug Repositioning: Approaches, Resources, and Research Directions
The document concludes that computational methods using networks and various data can improve the process of finding new uses for existing drugs.
research A comparative study of skin transcriptomes and histological observations for black and white hair colors of giant panda
The study found that giant pandas have more melanin in black hair follicles than white, with gene expression differences that could affect hair color and skin health.
research Circadian clocks: from stem cells to tissue homeostasis and regeneration
Circadian rhythms are crucial for stem cell function and tissue repair, and understanding them may improve aging and regeneration treatments.