research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
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480-510 / 1000+ results research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Chronic graft-versus-host disease – the role of dermatological treatment
Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
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 Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Item-specific patterns of the Skindex-17 in individuals with different levels of Hidradenitis Suppurativa severity: a network analysis study
Addressing psychosocial symptoms can improve outcomes for people with Hidradenitis Suppurativa.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Hidradenitis suppurativa: A folliculotropic disease of innate immune barrier dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Hidradenitis Suppurativa
The document concludes that lifestyle changes and medical treatments can significantly reduce symptoms of Hidradenitis Suppurativa, a chronic skin condition.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Lymphomatoid papulosis improving on hormone-replacement therapy
Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
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 Human Leukocyte Antigen Class II Alleles Are Associated with Risk of Alopecia Areata
Certain HLA class II alleles increase or decrease the risk of alopecia areata.
research Koinfeksi Sifilis Sekunder, Condyloma Acuminata dan Human Immundeficiency Virus (HIV) pada Pria Homoseksual
A 22-year-old homosexual man was diagnosed with secondary syphilis, genital warts, and HIV, highlighting the high STI risk in men who have sex with men.
research Condylomata acuminata of HIV-positive men may harbour focal areas of dysplasia: relevant implications for the management of human papillomavirus-induced disease in high-risk patients
Warts in HIV-positive men can have serious abnormal cell growth, needing careful analysis and treatment to prevent cancer.
research Fibrotic enzymes modulate wound‐induced skin tumorigenesis
PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research 568 Evaluating results of an interferon-γ release assay in patients with autoimmune skin disease on hydroxychloroquine
Hydroxychloroquine may cause false results in tuberculosis tests for patients with autoimmune skin diseases.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.