research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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930-960 / 1000+ resultsresearch A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Abrocitinib in the Treatment of Severe Alopecia Areata in a Pediatric Patient: A Case Report
Abrocitinib helped a 14-year-old girl with severe alopecia areata regrow her hair significantly.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research And next… Adnexa: Frontal Fibrosing Alopecia
A 55-year-old woman with several health conditions did not see hair regrowth after a transplant.
research Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype
Fibromodulin treatment helps reduce scarring and improves wound healing by making it more like fetal healing.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Tofacitinib for the treatment of severe alopecia areata and variants: A retrospective cohort study of 90 patients
Tofacitinib is effective and safe for treating severe alopecia areata and related conditions.
research Treatment of Alopecia Areata With Tofacitinib
Tofacitinib helped regrow hair in people with severe alopecia, but side effects occurred and benefits stopped after treatment ended.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research HAIR BANDS IN FACIO‐GENITO‐POPLITEAL SYNDROME
Hair bands are a new symptom of facio-genito-popliteal syndrome.
research Treatment of postmenopausal frontal fibrosing alopecia with oral dutasteride
Oral dutasteride can potentially treat frontal fibrosing alopecia in postmenopausal women, with some patients showing disease arrest and hair regrowth.
research Yellow facial papules associated with frontal fibrosing alopecia: A distinct histologic pattern and response to isotretinoin
Oral isotretinoin effectively treats yellow facial papules in frontal fibrosing alopecia patients.
research Effective treatment of alopecia universalis with oral tofacitinib: A case report
Oral tofacitinib successfully treated total body hair loss in one patient.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Alopecia areata masquerading as frontal fibrosing alopecia
Alopecia areata can look like frontal fibrosing alopecia, making diagnosis hard.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Folliculotropic mycosis fungoides in a child: a rare case
Folliculotropic mycosis fungoides can occur in children and is diagnosed with specific tests, but often stays in early stages with treatment.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Regulation of Hair Follicle Growth and Development by Different Alternative Spliceosomes of FGF5 in Rabbits
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
research Recovery of resistant alopecia areata treated with tofacitinib: An 8-year-old child's case report
Tofacitinib helped an 8-year-old child recover from a type of hair loss that is hard to treat.
research Increased expression of PD‐L1 and PD‐L2 in dermal fibroblasts from alopecia areata mice
PD‐L1 and PD‐L2 may not effectively control immune activation in alopecia areata.
research THERAPEUTIC CHALLENGES IN POLYAUTOIMMUNITY: ANIFROLUMAB FOR LUPUS ERYTHEMATODES IN OVERLAPPING AUTOIMMUNE SYNDROMES
Anifrolumab may help improve symptoms in patients with overlapping autoimmune diseases.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research 31810 The National Paediatric Alopecia Areata Registry in Russia: An overview
The registry showed that tofacitinib is promising for treating hair loss in children with alopecia areata, but more research is needed.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.