research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
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540-570 / 1000+ resultsresearch Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research High-risk male teenager with concurrent gonorrhea and syphilis infection: An alarming call
The document concludes that it's concerning when a teenage boy has both gonorrhea and syphilis at the same time.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research The study of preventing floppy iris syndrome during age-related cataract surgery
Atropine and neosynephrine effectively prevent floppy iris syndrome during cataract surgery.
research Eosinophilia associated with clozapine – A case report
A patient's allergic reaction to clozapine resolved without stopping the medication, showing the importance of blood monitoring.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research 6525 Alternating Hypothyroidism and Hyperthyroidism Complicated by Thyroid Eye Disease
A woman experienced fluctuating thyroid conditions and eye disease, but her symptoms improved with treatment.
research ‘Atrichosis’, a new hairless gene with cyst formation in rats
A new gene causes hairlessness and skin cysts in rats.
research Clinical Quiz No. 2
Dermatophycosis is a treatable fungal skin infection spread by contact with infected animals.
research Expert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Demodicosis and rosacea: Epidemiology and significance in daily dermatologic practice
Demodicosis is common and often missed, needing more recognition and treatment in skin care.
research The Endocrine control of fibre growth and shedding in cashmere goats
Hormones and daylight changes control when cashmere goats shed their hair.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Miscellaneous Disorders
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
research Actualización de la tricodinia, un reto para los dermatólogos
Trichodynia is a challenging scalp condition to treat, needing gentle care and more research for better solutions.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
research Molecular Diagnostics and Control of Zoonotic Dermatophytosis: First Detection of Trichophyton indotineae in a Dog in Africa
Accurate diagnosis and effective treatment are crucial to manage and prevent the spread of skin fungal infections in animals.
research Pemphigus Foliaceus in a 26-year-old Hackney Pony
The pony's skin condition improved significantly with prednisolone treatment.
research Isomorphic and isotopic phenomenon occurring simultaneously in a case of granuloma annulare
A patient with granuloma annulare experienced both isotopic and isomorphic responses, with skin lesions responding to steroids but relapsing after stopping treatment.
research Hormonal control of pelage cycles in the short tailed weasel (Mustela erminea bangsi)
The pituitary gland controls seasonal fur color changes in weasels.
research Comparative Biological Dynamics: A Cross-Disciplinary Analysis of Brain Hydration, Hair Morphogenesis, and Botanical Growth Systems
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Indications for Peripheral and Central Sensitization in Patients With Chronic Scalp Pain (Trichodynia)
Chronic scalp pain in trichodynia involves both body-wide and localized increased pain sensitivity.
research Expression of Hex during feather bud development
Hex gene plays a crucial role in starting feather development in chick embryos.