research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
Search
for
Sort by
Research
690-720 / 1000+ resultsresearch Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Deep Learning-based Automatic System for Diagnosis and Classification of Skin Dermatoses
The document concludes that an automatic system using deep learning can help diagnose skin disorders, but challenges and opportunities in this area remain.
research BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION
Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
research Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Age and Sex-Related Changes to Gene Expression in the Mouse Spinal Cord
research 51012 Clinical and pathophysiological study of seborrheic capitis: focus on brain-skin connection
Seborrheic dermatitis affects quality of life and sleep, linked to stress and nervous system changes.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Tardily accelerated neurologic deterioration in two-step thallium intoxication
Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.
research Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research Dermatoses of pregnancy
Pregnancy can cause various skin changes and diseases, with PUPPP being the most common skin condition specific to pregnancy.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Neuropathic Pruritus: An Underrecognized and Often Misdiagnosed and Difficult to Treat Medical Condition
Neuropathic pruritus is a commonly overlooked and wrongly diagnosed type of chronic itching that is hard to treat.
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 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 Histone deacetylase inhibitors promote neurosteroid‐mediated cell differentiation and enhance serotonin‐stimulated brain‐derived neurotrophic factor gene expression in rat C6 glioma cells
HDAC inhibitors help brain cells grow and improve brain function.
research Functional Food Nutrients, Redox Resilience Signaling and Neurosteroids for Brain Health
Functional foods and nutrients like flavonoids, vitamin D, omega-3s, and probiotics can boost brain health and reduce stress.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Giant pigmented tumour of the scalp—a diffuse neurofibroma or a congenital naevus showing neurofibromatous changes? Immunohistochemical and electron microscopic studies
The tumor likely shows dual neural crest differentiation.
research A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.