research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
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630-660 / 1000+ results research Altered expression of keratin 14 in lesional epidermis of autoimmune skin diseases
Keratin 14 may be an autoantigen in autoimmune skin diseases.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Vogt-Koyanagi-Harada disease occurring during pegylated interferon-α2b and ribavirin combination therapy for chronic hepatitis C
Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research 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 Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research A rare pediatric case of loose anagen hair syndrome
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research A rare case of complete Vogt-Koyanagi-Harada disease presenting to a tertiary care hospital in late stage: Clinical features, diagnosis, and management
A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Canine Zinc-Responsive Dermatosis
Dogs with zinc-responsive dermatosis need zinc supplements or dietary changes for treatment.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Massive squamous cell carcinoma arising from hidradenitis suppurativa with marked hypercalcemia and neutrophilia
A woman with a long-term skin condition developed a serious skin cancer that led to her death.
research Alopecia areata totalis bei 19-jähriger Patientin mit Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)
A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
research 加齢性白質病変(leukoaraiosis)update (特集 あしたの脳梗塞)
P chinensis may help treat stress-related hair loss.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Acute Hepatitis Due to Shen-Min
Shen-Min, a hair growth supplement, likely caused acute hepatitis in a woman, improving after she stopped taking it.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
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 Keratin 6A promotes skin inflammation through JAK1-STAT3 activation in keratinocytes
Keratin 6A increases skin inflammation, suggesting it could be a target for treating certain skin diseases.
research Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.