research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
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870-900 / 1000+ results research Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: review.
research Chronic pulmonary histoplasmosis in Portugal: a case report
A patient in Portugal with chronic pulmonary histoplasmosis had a complex medical history and environmental exposures.
research Chronische Thalliumintoxikation: Beobachtung einer kriminellen Vergiftung
A man was poisoned with thallium, treated successfully, but still had some nerve issues after 6 months.
research Assessment of Dermatological Disorders with Chronic Hepatitis C Virus Infection
People with chronic Hepatitis C often have skin problems like itching and contact dermatitis, especially older individuals and women.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research Drug-induced vitiligo: a real-world pharmacovigilance analysis of the FAERS database
Certain drugs may cause vitiligo, so patients should be monitored.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research Case report: pemphigus vulgaris in an adolescent
An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
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 The analysis of genetics and associated autoimmune diseases in Chinese vitiligo patients
Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Sodium valproate and thrombocytopenia.
Sodium valproate can cause low platelet count.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Painful, Unexplained Peripheral Neuropathy? Think Thallium Toxicity
If someone has unexplained nerve pain and hair loss, doctors should check for thallium poisoning.
research P175 The effects of biotin supplementation on alopecia in rats which were administrated to valproic acid
Biotin supplements did not significantly reduce hair loss in rats on valproic acid.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research [P233] A case of acquired trichorrhexis nodosa with iron deficiency anemia
Iron deficiency anemia can cause hair breakage.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Persistent pemphigus vulgaris and pemphigus foliaceus showing features of tufted hair folliculitis just on the scalp
A rare scalp condition with hair loss was correctly diagnosed and treated, leading to hair regrowth.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research 6. Phototherapy, Photomedicine, and Pigmentary Disorders
Stopping certain drugs can improve skin conditions, arsenicosis affects over half of a Bangladeshi village, males are more vulnerable, and certain treatments are effective for warts, acne, and psoriasis. Smoking and drinking are linked to psoriasis in men, a cream helps with a type of skin cancer, and low iron levels don't directly cause chronic hair loss in women.