research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
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690-720 / 1000+ resultsresearch 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 LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research การศึกษาการเปลี่ยนแปลงของเส้นผมและหนังศีรษะในผู้ป่วย SLE
SLE patients experience hair loss similar to telogen effluvium, with hair damage and immune activity at hair follicles.
research A randomized, double-blind, placebo- and active-controlled, half-head study to evaluate the effects of platelet-rich plasma on alopecia areata
Platelet-rich plasma treatment significantly increased hair regrowth and decreased discomfort in alopecia patients, making it a potentially better and safer treatment option.
research Alopecia areata: diagnosis and management
Alopecia areata is an unpredictable autoimmune hair loss condition, treated based on severity, with half of patients regrowing hair within a year without treatment.
research A Comprehensive Literature Review of JAK Inhibitors in Treatment of Alopecia Areata
JAK inhibitors show promise in effectively treating hair loss from alopecia areata.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Erworbene Alopezien im Kindesalter
Children's hair loss differs from adults, with alopecia areata being most common.
research Retinoids Putting the “A” in Alopecia
Vitamin A may influence hair loss conditions like alopecia, but more research is needed to understand how.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Mesenchymal Stem Cells for the Treatment of Skin Diseases
Mesenchymal stem cells show promise for treating various skin conditions and may help regenerate hair.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation
A father and son in Yemen have a genetic condition causing hair loss and nail problems.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Therapeutic Response of Alopecia Areata‐Associated Nail Changes to Baricitinib
Baricitinib may effectively treat nail changes in alopecia areata.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research A patient with diffuse hair loss
The patient's hair loss is most likely due to diffuse alopecia areata.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.