research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
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research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Comparison of cutaneous manifestations in chronic kidney disease with or without dialysis
Most patients with chronic kidney disease have skin problems, which get worse as the disease progresses, and dialysis doesn't greatly reduce these issues.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Understanding of a Veiled Illness: Evaluation of Polycystic Ovarian Syndrome awareness (PCOS) in Young Female Students of Karachi.
Young women in Karachi have low awareness of PCOS and its risks, needing more education.
research A case of red lunulae after haematopoietic stem cell transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Myeloproliferative disorder associated with alopecia universalis
Ruxolitinib helped regrow hair in a woman with a blood disorder and complete hair loss.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Expression patterns of programmed cell death 4 protein in normal human skin and some representative skin lesions
Increasing PDCD4 protein may help prevent or treat some skin cancers.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
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 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.
Genetic variants in specific genes cause a type of hair loss.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research 1339 Casein kinase 1 inhibition in keratinocytes enhances the migration of melanocyte precursors in the hair follicle via KitL/c-Kit signaling pathway
Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Cardiovascular risk factors in young Czech females with polycystic ovary syndrome
Young Czech women with PCOS have a higher risk of heart problems and should be regularly checked for cholesterol and glucose issues.
research ULTRAVIOLET LIGHT-ENHANCED VISUALIZATION OF CUTANEOUS SIGNS OF CAROTENE AND VITAMIN A DIETARY DEFICIENCY
UV light makes skin signs of lack of carotene and vitamin A more visible.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.