research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
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930-960 / 1000+ results research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
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 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 Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Flagellate Shiitake Mushroom Reaction With Histologic Features of Acute Generalized Exanthematous Pustulosis
Eating shiitake mushrooms caused a man to develop a rash similar to a skin condition known as AGEP.
research Inflammatory Tinea Capitis: Non-healing Plaque on the Occiput of a 4-year-old Child
Tinea capitis can cause scalp issues in children and should be considered in similar cases; treatment with griseofulvin and selenium sulfide is effective.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
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 Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Systemic scleroderma and lupus panniculitis with atypical clinical features: A case report and comprehensive review
A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
research A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity
Keratin is crucial for skin barrier formation and affects mitochondrial function.
research Beyond Appearances: Foreign Body Reaction of Hair Follicles as a Complication of Inflammatory Tinea Capitis (Kerion Celsi) Resolved
Removing keratin plugs and ingrown hairs improved scalp inflammation.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Scarring alopecia and scalp pruritus
The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Recent advances in congenital ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.