research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
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780-810 / 1000+ results research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Desmoplastic tricholemmoma in a dog
A dog had a rare skin tumor called desmoplastic tricholemmoma.
research Trichofolliculoma: a rare variant of hair follicle hamartoma
Trichofolliculoma is a rare skin bump on the face or scalp.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research A case of multiple trichoepitheliomas associated with alopecia areata and systemic lupus erythematosus
Autoimmune conditions can be linked to trichoepitheliomas, with treatment focusing on cosmetic concerns.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Folliculosebaceous cystic hamartoma with hair shaft fragments.
A rare ear cyst contained hair fragments.
research Trichotillomania associated with the "Friar Tuck sign" and nail-biting.
Trichotillomania can be identified by a "Friar Tuck sign" and nail-biting.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Langerin+ Dendritic Cells in Cutaneous Fibrosis: The TGF-β1 Signaling Axis
Targeting specific cell interactions may help treat skin fibrosis.
research Familial Frontal Fibrosing Alopecia Occurs Early in Daughters With Affected Mothers: A Case Report and a Review of the Literature
Daughters with affected mothers may develop frontal fibrosing alopecia early.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
research Trichofolliculoma: case report with immunohistochemical study of cytokeratins
Trichofolliculoma has specific cytokeratin patterns that help in its diagnosis.
research Transcriptome analysis of frontal fibrosis alopecia revealed involvement of immune cells and ferroptosis
The research suggests that immune cells and a specific type of cell death called ferroptosis are involved in Frontal fibrosis alopecia.
research Trichomycosis axillaris
Trichomycosis axillaris is a treatable bacterial infection of underarm hair.
research Familial frontal fibrosing alopecia in two male families
Frontal fibrosing alopecia has occurred in two related male families.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
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 Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Exploring the Dermoscopic Patterns in Tuberous Sclerosis
Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research Unleashing the Furry Beast: Exploring the Fascinating World of Hypertrichosis Lanuginosa
Hypertrichosis lanuginosa causes excessive fine hair growth, often linked to genetics or cancer, with limited treatment options.