research Hair-Related Dysmorphic Disorder in a Patient with Bipolar Disorder
Treating both bipolar disorder and hair-related BDD with psychiatric medications improved the patient's symptoms.
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research The development of oral hairy leukoplakia during JAK inhibitor baricitinib therapy
A man developed oral hairy leukoplakia while on baricitinib, a medication for alopecia and arthritis, and doctors should watch for such side effects.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Basal Cell Carcinoma, Hedgehog Signaling, and Targeted Therapeutics: The Long and Winding Road
New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research A Hairy Paradox: Congenital Triangular Alopecia with a Central Hair Tuft
Some people with congenital triangular alopecia have a central tuft of hair in the bald patch, but the cause is unknown.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
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 5048 A Rare Cause of Hyperandrogenism in Postmenopausal Women: Ovarian Stromal Hyperplasia
Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
research Unraveling the Molecular Mechanism of Bider Marking Formation in Dun Mongolian Horses Through Transcriptome Sequencing
"Bider" markings in Dun Mongolian horses are caused by a complex network of genes and pathways.
research Idiopathic hirsutism: Is it really idiopathic or is it misnomer?
Idiopathic hirsutism might not be truly idiopathic but could be an early stage of hyperandrogenic disorders.
research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Chronic nonhealing ulcer in a finger of a toddler – a rare presentation of the hair thread tourniquet syndrome
A toddler's chronic finger ulcer was successfully treated after removing a hair causing hair-thread tourniquet syndrome.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.