research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
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research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Association of Systemic Involvement with Skin Morphology Assessed by Multiphoton Microscopy in Pseudoxanthoma Elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Measuring Steroids in Hair Opens Up Possibilities to Identify Congenital Adrenal Hyperplasia in Developing Countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research A Combination of Low-Dose Systemic Etretinate and Topical Calcipotriol/Betamethasone Dipropionate Treatment for Hyperkeratosis and Itching in Olmsted Syndrome Associated with a TRPV3 Mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Vulvovaginal Involvement in Netherton Syndrome: A Case Report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Central Nervous System Involvement in Autoimmune Polyglandular Syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Exploring the Efficacy of Testosterone Undecanoate in Male Children with 5α-Reductase Deficiency
Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
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 Collodion Baby Case Series: The Success of Oral Retinoic Acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
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 Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research 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 Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Genetic Analysis Does Not Confirm Non-Classical Congenital Adrenal Hyperplasia in More Than a Third of Women Followed with This Diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Treatment of Erythromelanosis Follicularis Faciei Et Colli With a 595-Nm Pulsed Dye Laser
The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
research Uncombable Hair Improved by Biotin
Biotin supplements significantly improved a young girl's uncombable hair.