research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
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research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Keratolysis in a patient with pemphigus vulgaris
Corneal issues in pemphigus vulgaris may require surgery if medication is not followed.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus
Digital gangrene can be an initial symptom of late-onset systemic lupus erythematosus.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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 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 P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Trichostasis Spinulosa
The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
research A Unique Acquired Athletic Dermatologic Condition in a Half Marathon Participant: An Autobiographical Case Report of Sports-Associated Clothing Related Axillary Tangled Clumped Hairs (SCRATCH)
A runner developed tangled armpit hairs from shirt friction, preventable by shaving or wearing smooth shirts.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research 0480 Upadacitinib monotherapy for treatment of pyoderma gangrenosum: A case series
Upadacitinib effectively treats pyoderma gangrenosum.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
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 Complex Regional Pain Syndrome I (Reflex Sympathetic Dystrophy)
CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
research CLINICAL SPECTRUM AND IMMUNOLOGICAL PROFILE OF PATIENTS WITH MIXED CONNECTIVE TISSUE DISEASE PRESENTING IN A TERTIARY CARE HOSPITAL
Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Curly Hair Follicle is Sculpted by a Contracted Arrector Pili Muscle. A Hypothesis with Treatment Implications
Relaxing the Arrector Pili Muscle might make curly hair straighter.
research Alopecia Areata and Habit Tic Deformities
Nail issues are common in alopecia areata patients.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research The Distribution of Preputial Vessels in Different Severity of Rat Congenital Hypospadias Model: Imaging study using Micro-Computerized Tomograph
The junction of the inner and outer prepuce with good blood flow is best for vascular pedicle flaps.
research Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 2 approved]
Digital gangrene can be an unusual first sign of late-onset lupus.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.