research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
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research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Epithelial elements in superficial angiomyxomas: mimicry of adnexal development, and mesenchymal‐to‐epithelial transition
Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research Hair shaft disorders: a rare case series
The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
research Secretory phospholipase A2-IIA overexpressing mice exhibit cyclic alopecia mediated through aberrant hair shaft differentiation and impaired wound healing response
Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
research Dermoscopic Approach to a Small Round to Oval Hairless Patch on the Scalp
Dermoscopic examination helps diagnose different types of hair loss conditions by showing specific patterns.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research A Woman With Nodules and Depressed Scars
The woman has a skin condition involving nodules, scars, and hair loss.
research Loose anagen hair syndrome
Loose anagen hair syndrome causes easily shed hair but usually improves with time.
research A Case of pretibial myxedema with hyperthyroidism
The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
research Atrichia with papular lesions mimicking alopecia areata universalis
The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.
research Comprehensive single-cell transcriptomic profiling of the scalp from patients with moderate-to-severe alopecia areata
Alopecia areata involves immune system issues and specific cell types that disrupt hair growth, leading to hair loss.
research Exfoliative dermatitis in a cat
A cat had a rare skin disorder with hair loss and scaling, linked to a suspected tumor.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population
The study found increased skin pigmentation and variable melanocyte density in a patient with Addison's disease.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Light microscopy of the hair: A simple tool to "untangle" hair disorders
Light microscopy is useful for diagnosing different hair disorders.
research Alopecia areata, thyroiditis and vitiligo vulgaris in a Japanese patient with smoldering type adult T‐cell leukemia/lymphoma
A patient with leukemia/lymphoma also had multiple autoimmune diseases, suggesting a link between them.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.