research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
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30-60 / 1000+ resultsresearch Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Cosmetic adverse effects of antiseizure medications; A systematic review
Some antiseizure medications can cause cosmetic problems like hair loss, excessive hair growth, acne, and gum overgrowth.
research Nardostachys Jatamansi DC: A Medicinal Treasure in Peril(A Review)
Nardostachys Jatamansi is an endangered plant with valuable medicinal properties that could lead to safer drug alternatives.
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 Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments
iPSCs help understand and treat neurodevelopmental disorders.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Subject Index
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Dermatoses of Pregnancy - Clues to Diagnosis, Fetal Risk and Therapy
The document concludes that specific itchy skin diseases during pregnancy have varying fetal risks and treatments, including corticosteroids and other medications.
research Liver transplantation for propionic acidemia in children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Hypertension and Reproduction
Reproductive factors can increase hypertension risk and affect cardiovascular health.
research Inhibition of 3‐methylcrotonyl‐CoA carboxylase explains the increased excretion of 3‐hydroxyisovaleric acid in valproate‐treated patients
Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
research A Critical Review on Obstetric Follow-up of Women Affected by Systemic Lupus Erythematosus
Women with Systemic Lupus Erythematosus should have closely monitored pregnancies and avoid certain medications to improve their pregnancy outcomes.
research Use of hair cortisol as a biomarker for chronic stress in pregnancy
Hair cortisol could be a marker for chronic stress in pregnancy, but depression affects cortisol levels differently.
research The Antiepileptic and Antidepressant-Like Effects of Dexpanthenol in Female Swiss Albino Mice
Dexpanthenol may help treat epilepsy and depression.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research General Dermatology
The document explains various skin conditions and their treatments.
research Sex Hormones and Related Compounds, Including Hormonal Contraceptives
The document concludes that sex hormones and related compounds have various effects on health, with both potential benefits and risks.
research Safety of dermatologic medications in pregnancy and lactation
Some skin medications are safe during pregnancy and breastfeeding, but others can harm the baby and should be avoided.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.