research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research 8th Postgraduate Seminar in Pediatric Dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research Hair and Nail Disorders of Childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Hair Shaft Disorders: A Rare Case Series
The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research The Utility of Elastic Verhoeff-Van Gieson Staining in Dermatopathology
EVG staining is a valuable, simple, and cost-effective method for diagnosing various skin conditions in dermatopathology.
research Eyebrow Loss
Eyebrow loss has many causes and requires accurate diagnosis for proper treatment.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Inherited Epidermolysis Bullosa: Clinical and Therapeutic Aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research A National Ethics Committee: Findings on Health Issues and Recommendations
Taking calcium may help elderly with osteoporosis, birth control with levonorgestrel doesn't increase heart attack risk, Salmonella can cause arthritis, a national ethics committee is recommended, and sulfasalazine might help with a hair loss condition.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Female Pattern Hair Loss in Complete Androgen Insensitivity Syndrome
Hair loss in women may have causes other than hormones.
research Significance of Iron Status in Hair Loss in Women
Iron deficiency might contribute to hair loss in women.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.