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research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research 097 LFA-1 blockade prevents the onset of alopecia areata in C3H/HeJ mice
Blocking LFA-1 prevents hair loss in mice.
research A clinical case of familial alopecia areata in combination with immune pathology
Tofacitinib may help hair regrowth in familial alopecia areata with immune issues, but more research is needed.
research 1322 Molecular profiling of frontal fibrosing alopecia (FFA) reveals TH1 and JAK-STAT up-regulation with no suppression of hair keratins
Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research 1388 Clinicopathological characteristics of fibrosing alopecia in a pattern distribution: A single-center, retrospective study
The study suggests fibrosing alopecia in a pattern distribution has distinct features and may vary by race.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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 Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia
A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Mobile phone app from NHS "hack day" is set to transform handovers and task lists
FFA can be mistaken for rosacea, requiring specific treatment for accurate diagnosis and management.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Alopecia areata
Alopecia areata involves immune response and gene changes affecting hair loss.
research Loose anagen hair.
Loose anagen hair can appear at any age and may improve over time.
research Alopecia areata: Clinical presentation, diagnosis, and unusual cases
Alopecia areata is a hair loss condition that often starts before age 30 and can affect various body parts, with unpredictable hair regrowth chances.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.