research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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600-630 / 1000+ resultsresearch Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research 850 After skin wounding, noncoding dsRNA coordinates prostaglandins and WNT7b to promote regeneration
Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
research Severe Physical Complications among Survivors of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis
SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
research Concise Review: Tissue-Engineered Skin and Nerve Regeneration in Burn Treatment
New methods for skin and nerve regeneration can improve healing and feeling after burns.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Co-presentation of Tapia's syndrome and pressure alopecia—A rare event after septorhinoplasty: A case report and literature review
A man developed rare complications after nose surgery, stressing the need for better prevention.
research Regulation of itch-induced scratching by nucleus accumbens dopamine receptor-expressing neurons
Dopamine receptors in the brain influence itch-related scratching behavior.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research 0846 Wnt signaling drives hair follicle regeneration in wounds by attenuating mechanotransduction in the epidermis
Wnt signaling helps regenerate hair follicles in wounds by reducing skin cell sensitivity to mechanical stress.
research Increased expression of nerve growth factor and neurokinin-1 alarm the hair loss in female with trichodynia
Higher levels of certain nerve-related proteins are linked to hair loss in women with scalp pain.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network
CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Multipotent nestin-expressing stem cells capable of forming neurons are located in the upper, middle and lower part of the vibrissa hair follicle
Stem cells in hair follicles can become neurons and other cells, especially in the upper part, useful for nerve repair.
research Vogt-Koyanagi-Harada Syndrome from Dermatological Perspective: A Case Report
Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
research Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Sensory neuron remodeling and Merkel-cell changes happen independently during skin maintenance.
research 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB)
research Severe lupus vasculitic neuropathy
Correct diagnosis and treatment of lupus vasculitis improved the woman's severe symptoms.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
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 Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
research 509 Using the human iPSCs-derived sensory neurons re-innervated skin ex vivo model to investigate mast cell-nerve fiber cross-talk in solar elastosis
Nerve fibers may worsen mast cell activity, leading to abnormal elastic fiber buildup from sun exposure.