research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
Search
for
Sort by
Research
720-750 / 1000+ resultsresearch Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Citrullination at the Inflammatory Skin Barrier
A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review
CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
research Overnight loss of pigmented hair in autoimmune autonomic neuropathy treated with IVIg
IVIg treatment improved symptoms but caused permanent dark hair loss.
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 BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Case Report: Diffuse Hypertrichosis in the Course of Hepatitis C Treatment by IFN-α and Ribavirin
A man developed excessive hair growth after treatment with interferon-alpha and ribavirin for hepatitis C.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research 852 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
research This month in JAAD Case Reports: October 2023—Central centrifugal cicatricial alopecia in Black men
CCCA affects Black men too, with a genetic link found in the PADI3 gene.
research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
research Vitamin C Deficiency-Induced Pulmonary Arterial Hypertension
Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
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 Conditional Activin Receptor Type 1B (Acvr1b) Knockout Mice Reveal Hair Loss Abnormality
Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research The development of oral hairy leukoplakia during JAK inhibitor baricitinib therapy
A man developed oral hairy leukoplakia while on baricitinib, a medication for alopecia and arthritis, and doctors should watch for such side effects.
research Central Centrifugal Cicatricial Alopecia (CCCA)
CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Cerebral vasculitis as a severe complication of acute infectious meningoencephalitis—a case series of five different pathogens
Infectious cerebral vasculitis can be a severe complication of meningoencephalitis, regardless of the pathogen.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.