research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
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480-510 / 1000+ resultsresearch Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Polycystic Ovary Syndrome: A Comprehensive Review of Pathogenesis, Management, and Drug Repurposing
PCOS management includes lifestyle changes and medications, with ongoing research into repurposed drugs for better treatment options.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Using the zebrafish lateral line to uncover novel mechanisms of action and prevention in drug-induced hair cell death
Zebrafish helped find new ways to prevent drug-induced hair cell death and potential treatments for hearing loss.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES
Early diagnosis and personalized treatment are crucial for managing PCOS and preventing complications.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Recent Approaches in the Treatment of Polycystic Ovary Syndrome: An Update
There are many ways to treat Polycystic Ovary Syndrome, including lifestyle changes, surgery, and various medications, but more research is needed for better treatments.
research Functional Food Nutrients, Redox Resilience Signaling and Neurosteroids for Brain Health
Functional foods and nutrients like flavonoids, vitamin D, omega-3s, and probiotics can boost brain health and reduce stress.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Valproate-acid-induced cutaneous leukocytoclastic vasculitis.
Valproic acid can cause a skin condition called leukocytoclastic vasculitis, which usually gets better after stopping the drug.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Polycystic ovary syndrome (PCOS), an inflammatory, systemic, lifestyle endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Prevalence, Symptomatology and Herbal Management of Polycystic Ovarian Syndrome
Herbal remedies like Asparagus racemosus and Tinospora cordifolia may help manage PCOS symptoms.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient
Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Skin-Derived Stem Cells for Wound Treatment Using Cultured Epidermal Autografts: Clinical Applications and Challenges
Skin-derived stem cells show promise for improving wound healing and creating transplantable tissue.