research The direct inhibitory effect of dutasteride or finasteride on androgen receptor activity is cell line specific
Dutasteride and finasteride affect different cell types differently.
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research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
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 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 Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Polycystic Ovary Syndrome in Childhood: Diagnostic and Therapeutic Challenges
Diagnosing and treating PCOS in young people is difficult.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Nifedipine: a new treatment for perniosis
Nifedipine may help treat perniosis, improving symptoms and clearing lesions for some patients.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.