research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
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research Society News
Smoking doubles the risk of blindness, and physical exercise helps dyslexic children read better.
research Association Between Vitamin D and Zinc Levels With Alopecia Areata Phenotypes at a Tertiary Care Center
Low Vitamin D is common in people with Alopecia Areata, but its impact on the condition needs more research.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
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.
research Faculty Opinions recommendation of Loss of desmocollin 3 in mice leads to epidermal blistering.
Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Gonadal Function Abnormalities in Sickle Cell Anemia
Sickle cell anemia causes hormone issues and delayed puberty due to testicular failure.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Delleman syndrome or Haberland syndrome?
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Hair and Nail Disorders in Children with FST 5
Children with darker skin can have various hair and nail issues.
research Filling the Gaps: Vitamin D Status in Diffuse Hair Fall Among Pakistanis
Vitamin D3 deficiency is common in Pakistanis with diffuse hair fall, and early treatment is advised.
research Ligand-Independent Vitamin D Receptor Actions Essential for Keratinocyte Homeostasis in the Skin
Vitamin D receptor actions without binding are crucial for healthy skin and hair.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research A comprehensive investigation of biochemical status in patients with telogen effluvium: Analysis of Hb, ferritin, vitamin B12 , vitamin D, thyroid function tests, zinc, copper, biotin, and selenium levels
Telogen effluvium is linked to deficiencies in iron, vitamin B12, and thyroid function.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research A.S.P.E.N. Parenteral Nutrition Trace Element Product Shortage Considerations
Use oral or enteral nutrition when possible and reserve IV trace elements for those who truly need them.
research Laporan Kasus <i>Acrodermatitis Enteropathica </i>pada Anak 5 Tahun dengan Level Zink Serum Normal
Acrodermatitis enteropathica can occur even with normal zinc levels, and zinc supplements can improve symptoms.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research Congenital adrenal hyperplasia
The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Segmented heterochromia in scalp hair
Iron therapy cured the boy's hair color issue.
research The Rho guanosine nucleotide exchange factors Vav2 and Vav3 modulate epidermal stem cell function
Vav2 and Vav3 proteins help control skin stem cell numbers and activity in both healthy and cancerous cells.
research 34006 Vitamin D deficiency in patients with lichen planopilaris/frontal fibrosing alopecia
Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.