research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
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360-390 / 1000+ results research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Effect of interferon therapy on quality of life in patients with chronic hepatitis B
Interferon therapy improves quality of life for chronic hepatitis B patients.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Primary cicatricial alopecia and inflammatory bowel disease – is there a link?
Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.
research Śródskórne iniekcje acetonidu triamcynolonu w leczeniu Zespołu Grahama-Little’a — opis przypadku
Intralesional triamcinolone acetonide can effectively limit the progression of GLPLS.
research Case of thallium intoxication
Thallium poisoning can be treated successfully with the right antidote.
research Scattered Skin Eruptions in a Patient With Inflammatory Bowel Disease
A woman with inflammatory bowel disease improved after treatment with ustekinumab for a rare skin condition associated with her disease.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Uso de medicina biorreguladora de sistemas en paciente canino alopécico, asociado a quimioterapia metronómica realizada para el manejo de carcinoma de células hepatoides.
Biorregulatory therapy significantly improved the dog's health, reversing previous issues and eliminating the need for ongoing medication.
research Drugs linked to blepharitis, meibomian gland dysfunction, and chalazion: a real-world, population-based pharmacovigilance analysis
Certain drugs can cause eyelid inflammation, so doctors should monitor and educate patients on eyelid care.
research Clearance of ichthyosis linearis circumflexa with balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research A woman with headaches and blurred vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
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 Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research Discoid lupus erythematosus presenting with cysts, comedones, and cicatricial alopecia on the scalp
The patient's scalp lesions stabilized with a combination of treatments after initial therapies failed.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Persistent chemotherapy-induced alopecia: updates in diagnosis and treatment persistent chemotherapy induced alopecia: an updated approach
Scalp cooling and minoxidil can help manage hair loss after chemotherapy.
research Ban Tu Wan hepatotoxicity
Ban Tu Wan, a Chinese herbal supplement, can cause severe liver damage.
research Retiform Purpura Caused by the Use of Cocaine, That Was Probably Adulterated with Levamisole
Cocaine possibly mixed with levamisole caused a woman's skin condition and blood issues, which improved with treatment.
research An Interesting Case of Hepatic Adrenocortical Carcinoma.
A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
research Oral itraconazole for the treatment of giant tufted angioma with hair loss arising during pregnancy: A case report
Itraconazole effectively treated a woman's painful skin condition and hair loss.
research Ophthalmologic Features of Thallium Poisoning
Thallium poisoning can cause serious eye problems and other severe health issues.
research S3886 Concurrent Management of Crohn's Ileitis and Alopecia Universalis With Upadacitinib
Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.