research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
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research The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study
Trichoepitheliomas can be hard to distinguish from other skin conditions and often start in teenage years.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Pityriasis rosea as a leading manifestation of COVID‐19 infection
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Dermal papilla cells induce keratinocyte tubulogenesis in culture
Skin cells can help create early hair-like structures in lab cultures.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Stem cell apoptosis in HIV‐1 alopecia
HIV-1 may cause increased stem cell death in hair follicles, leading to hair loss.
research Trichoscopy: A Useful Tool in Diagnosing Temporal Triangular Alopecia
Trichoscopy effectively diagnoses temporal triangular alopecia in children.
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Skin Disease in Korean Human Immunodeficiency Virus Patient
HIV patients in Korea often have skin diseases like fungal infections, folliculitis, and seborrheic dermatitis, which are less common with effective HIV treatment.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Cicatricial Alopecia with Particular Trichoscopic and Histopathological Features
The document concludes that a woman has both Frontal Fibrosing Alopecia and Lichen Simplex Chronicus, a previously unreported combination of conditions.
research Trichoscopic features of folliculitis decalvans: A multicenter review
The study found that Temporal Triangular Alopecia often starts in early childhood, while Folliculitis Decalvans is characterized by tufted hairs and redness around hair follicles.
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 Herpes zoster ophthalmicus following platelet-rich plasma therapy for androgenetic alopecia
Platelet-rich plasma therapy may rarely trigger herpes zoster ophthalmicus.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.