research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
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research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research [Monilethrix--rare syndrome of structural hair abnormalities].
Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research Rapamycin but not acarbose decreases age-related loss of outer hair cells in the mouse Cochlea
Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
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.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Acquired Localized Hypertrichosis Induced by Rivastigmine
An 80-year-old man grew extra hair on his forearms after starting Alzheimer's medication rivastigmine.
research Oral Signs of Hematologic Disease
The conclusion is that different blood diseases cause specific oral symptoms and require varied treatments to manage these symptoms and improve patient health.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Gilles de la Tourette syndrome – A treatable condition?
Gilles de la Tourette syndrome is treatable, with behavioral therapy as a recommended first option and other treatments available for more severe cases.
research Hair Tourniquet Syndrome Involving the Uvula Secondary to an Airway Foreign Body
Prompt diagnosis and treatment of hair tourniquet syndrome involving the uvula are crucial to prevent severe complications.
research Madarosis and Facial Alopecia Presumed Secondary to Botulinum A Toxin Injections
Botulinum A toxin injections may cause hair loss on the face and loss of eyelashes.
research Localized Acquired Perforating Dermatosis on Scalp Presented With Acute and Diffuse Total Alopecia
Treatment improved scalp conditions and hair loss with no recurrence after 1 year.
research Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents
Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
research Alopecia Triangular Temporal. Revisión de las manifestaciones clínicas y Dermatoscópicas.
Alopecia triangular temporal is a rare condition with unclear causes and treatment, but trichoscopy helps in diagnosis.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.