research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
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540-570 / 1000+ resultsresearch Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Azathioprine‐induced alopecia and leukopenia associated with NUDT 15 polymorphisms
Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Dermoscopic Assessment of Pityriasis Versicolor: A Cross-Sectional Observational Study
Dermoscopic features can help identify and differentiate types of pityriasis versicolor.
research A Case of Valproate Toxicity Related to Isoniazid
Valproic acid and isoniazid can interact, causing toxicity, so careful monitoring is needed.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Melanocytes and Vitiligo (and Hair Graying)
Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Drug-induced hair colour changes
Some medications can cause rare hair color changes, and reporting these side effects is important for patient quality of life.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Skin diseases associated with hepatitis C virus: Facts and controversies
Hepatitis C virus can cause skin diseases and dermatologists play a crucial role in identifying these conditions.
research Anaemia and skin disease
Some skin diseases and anaemia are related, and treating the skin condition can often improve the anaemia.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
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 Tinea Capitis: Mixed or Consecutive Infection with White and Violet Strains of Trichophyton violaceum : A Diagnostic or Therapeutic Challenge
Treating a boy's scalp infection was challenging because two different colors of the same fungus appeared.
research Pohl-Pinkus constrictions of hair following chemotherapy for Hodgkin's disease
Chemotherapy caused the patient's hair to have alternating thick and thin segments.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Gloriosa superba Poisoning-induced Anagen Effluvium
Gloriosa superba poisoning can cause sudden hair loss, but hair usually regrows fully.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Graham Little-Lassueur Syndrome with Hypertrophic Lichen Planus in a Patient with Chronic Hepatitis C
A woman with chronic hepatitis C had a rare skin condition linked to her illness.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
research Trichosporon inkin and Trichosporon mucoides as unusual causes of white piedra of scalp hair
Trichosporon inkin and Trichosporon mucoides can cause white piedra on scalp hair.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.