research A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy
A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
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research 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa
Neutrophils quickly respond to skin injury.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)
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.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Decision letter: Intercellular propagation of extracellular signal-regulated kinase activation revealed by in vivo imaging of mouse skin
ERK activation spreads between cells in mouse skin, linked to cell division and influenced by TPA and EGF receptors.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research Mapping the accessibility of the disulfide crosslink network in the wool fiber cortex
Cysteines in wool fibers are accessible and form important disulfide bonds.
research Possible Carbamazepine-Induced Reversible Onychomadesis
Carbamazepine may cause reversible nail detachment.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Modulating mechanosensory afferent excitability by an atypical mG luR
A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
research Tissue Dynamics in the Three-Hair-Bearing Flap Transposition
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research Short anagen hair with persistent synchronized pattern of scalp hair growth
A boy had unusual synchronized hair growth with short active growth phases, not fitting known hair disorders.
research The First Report of Isolated Clitoral Hood Hair-Thread Tourniquet Syndrome: A Study of Six Patients
Early detection and treatment of hair-thread tourniquet syndrome in young girls is important to prevent serious harm.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: 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 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research THE OCCURRENCE OF DISCOID LUPUS ERYTHROMATOSUS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS, WITH OVERLAPPING ANCA-ASSOCIATED VASCULITIS, AND RHEUMATOID ARTHRITIS PRESENTING AS PAPULAR-PURPURIC GLOVE AND SOCK SYNDROME
A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
research Single-Cell Proteomics Uncovers Dual Traits of Dermal Sheath Cells in Wound Repair
Dermal sheath cells help heal wounds by showing both skin and connective tissue traits.