research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
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570-600 / 1000+ resultsresearch Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
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 A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research The histopathologic spectrum of psoriasis
Psoriasis skin changes are complex and might need several biopsies for a clear diagnosis.
research A Case of Idiopathic Twenty-Nail Dystrophy
A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Bolu Yöresindeki Multipl Skleroz Hastalarında Görülen Dermatolojik Bulgular
MS patients often have skin issues, so regular skin checks are important.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research A SUBPOPULATION OF ITCH RECEPTORS MARKED BY RET EXPRESSION
A new type of nerve cell involved in itch perception was discovered.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Complications and Difficult Cases: A Case of Trigeminal Neuralgia Following an FUE Hair Transplant Procedure
Hair transplant surgery can sometimes lead to nerve pain in the face.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research A case of primary cutaneous natural killer/T-cell lymphoma, nasal type, with indolent clinical course: monoclonal expansion of Epstein-Barr virus genome correlating with the terminal aggressive behaviour
The growth of the Epstein-Barr virus in the patient's cells was linked to the worsening of her lymphoma.
research eLife assessment: Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Sensory neuron and Merkel cell changes in the skin happen independently during normal skin maintenance.
research New Proposed Classification for Psychodermatosis Based on the Complex Interaction Between the Brain and Skin
Psychodermatosis is reclassified based on brain-skin interaction, dividing conditions into psychogenic and psychosomatic categories.
research The spectrum of nephrocutaneous diseases and associations
Skin doctors should know about skin and kidney disease links to prevent serious kidney problems.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Hyperammonemic encephalopathy without hepatic dysfunction due to treatment with valproate: four cases and a mini review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
research The successful treatment of nephrogenic fibrosing dermopathy (NFD) with mycophenolate mofetil (MMF)
Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research Trichodysplasia spinulosa: A benign adnexal proliferation with follicular differentiation associated with polyomavirus
Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
research Human hair keratins promote the regeneration of peripheral nerves in a rat sciatic nerve crush model
Human hair keratin helps repair nerve damage in rats.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Somatosensory organization and behavior in naked mole‐rats: II. Peripheral structures, innervation, and selective lack of neuropeptides associated with thermoregulation and pain
Naked mole-rats have unique skin and hair nerve structures, lacking certain pain and temperature-related neuropeptides.