research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Oral lichen planus preceding concomitant lichen planopilaris
Oral lichen planus can appear before lichen planopilaris.
research Anterior neck fat deposition in lipodystrophy syndrome; a new variant on a theme?
A new form of lipodystrophy in HIV patients causes neck fat buildup.
research Lichen Planopilaris
Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
research Case number 19th of perforating necrobiosislipoidica worldwide
The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
research 176 The Prospective Cutaneous Lymphoma International Prognostic Index (PROCLIPI) Study identifies clinical prognostic markers and establishes the foundation for large-scale translational research in cutaneous lymphoma
The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Linc-PINT downregulation of TGF-β signaling pathway in heart arrhythmia: an in silico analysis
Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
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 Lichen planus and other cutaneous manifestations in chronic hepatitis C: pre- and post-interferon-based treatment prevalence vary in a cohort of patients from low hepatitis C virus endemic area
Skin problems like itching, dry skin, and hair loss are more common in hepatitis C patients after interferon treatment, but lichen planus is not linked to the infection.
research 838 Histologic and immunohistochemical evaluation of Lichen Planopilaris and correlation with clinical disease severity
The study found a link between the severity of Lichen Planopilaris seen by doctors and the details seen under a microscope, and created a new way to measure this severity.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Atypical Presentation of Lichen Planopilaris: Presentation of Two Cases and Review
Two unusual cases showed that Lichen Planopilaris can look like other skin conditions and need early treatment to protect hair.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Heterogeneous disease: A child case of lichen planus pemphigoides triggered by varicella
A child's rare skin disease was triggered by chickenpox.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Machine learning predicts scarring progression in lichen planopilaris: A multidimensional model integrating trichoscopy, vitamin D, and diagnostic timelines
A machine learning model can predict scarring in lichen planopilaris using factors like vitamin D levels and diagnostic delay.