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.
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870-900 / 1000+ results research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Erosive Pustular Dermatosis of the Scalp: Clinicopathological Correlation Leading to a Definition of Diagnostic Criteria
Chronic scalp lesions with crusts and pus that heal with strong topical steroids suggest Erosive Pustular Dermatosis, confirmed by biopsy showing specific immune cells.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research The role of Glucosylceramides in Keratinocyte Differentiation and Epidermal Barrier Function
Glucosylceramides are essential for healthy skin and proper wound healing.
research Discoid lupus erythematosus presenting with cysts, comedones, and cicatricial alopecia on the scalp
The patient's scalp lesions stabilized with a combination of treatments after initial therapies failed.
research GENERALIZED DERMATITIS IN A MIXED-BREED GERMAN SPITZ DOG
The dog's skin condition improved with treatment, but full recovery wasn't achieved, and environmental cleaning is advised to prevent re-infection.
research Erosive pustular dermatosis of the scalp: A case report
Timely treatment of EPDS can reduce scarring.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Immunolocalization of Scaffoldin, a Trichohyalin‐Like Protein, in the Epidermis of the Chicken Embryo
Scaffoldin helps form hard skin structures in chicken embryos.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Subcutaneous emphysema resulting from liquid nitrogen spray
Liquid nitrogen spray caused a temporary, harmless swelling under the skin in an elderly woman.
research Topical tacalcitol ointment can be a good therapeutic choice in erythromelanosis follicularis faciei et colli
Topical tacalcitol ointment can help improve symptoms of EFFC.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Vitamins
High doses of certain vitamins can cause serious side effects and health risks.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Vitamin D levels in patients with seborrheic dermatitis
People with seborrheic dermatitis often have lower vitamin D levels.
research Necrobiosis lipoidica of the scalp
A rare scalp condition caused scarring hair loss in a woman, improved slightly with treatment.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research The Serine Protease Activity of Corin Is Required for Normal Pigment Type Switching
research Rare Diagnosis of a Proliferating Pilar Tumor in a Facial Hairline Cryst
The lump on a woman's scalp was a rare, potentially cancerous tumor from the hair follicle, not a common cyst.
research Linear trichoepithelioma on the neck of a 15-year-old girl
A 15-year-old girl has a benign skin tumor on her neck.
research NEW YORK DERMATOLOGICAL SOCIETY
The meeting highlighted the complexity and variability of skin conditions and differing opinions on their diagnoses and treatments.
research Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
Hairy elbows may be linked to short stature, but the exact cause is unclear.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research リリース：Microsoft RSAT for Windows 7 SP1（20110412-1）
Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.