research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
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390-420 / 1000+ resultsresearch Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy
research SCABIOSIS BY SARCOPTES SCABIEI AND NOTOEDRES CATI IN DOMESTIC CATS
Proper treatment and sanitation can cure and prevent scabiosis in domestic cats.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma
The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research A comparative analysis of three explanatory models of mental disorder and a preferred focus of explanation
Steroid cell tumors in the ovary are rare, can produce testosterone causing symptoms, and are mainly treated with surgery.
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 Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Sox9 expression in canine epithelial skin tumors
Sox9 is present in most canine skin tumors and may help understand stem cells' role in these cancers.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Metabolic syndrome in Greek women with polycystic ovary syndrome: prevalence, characteristics and associations with body mass index. A prospective controlled study
Greek women with PCOS have a higher risk of metabolic syndrome and are more likely to be overweight compared to healthy controls.
research Abstracts from the 55th European Society of Human Genetics (ESHG) 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 0977 Pathogenic hallmarks of primary lymphocyte-mediated scarring alopecia revealed by single nuclear and spatial multiomics
Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research Epilating Effect of Cystaselenonine on Induced Hair Growth in Mice
Cystaselenonine causes temporary hair loss in mice by interfering with hair growth.
research Trichoscopy and LC-OCT findings in sonidegib-induced alopecia in patients with advanced basal cell carcinoma
Sonidegib often causes hair loss, and LC-OCT helps identify early signs.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Activated Hair Follicle Stem Cells and Wnt/β-catenin Signaling Involve in Pathnogenesis of Sebaceous Neoplasms
Abnormal activation of hair follicle stem cells and Wnt/β-catenin signaling contributes to sebaceous neoplasms.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research New-Onset Gastrointestinal Polyposis
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.