research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
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840-870 / 1000+ resultsresearch Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Frontal Fibrosing Alopecia: A Comprehensive Guide for Cosmetic Dermatologists
Dermatologists should carefully choose treatments for FFA to avoid worsening the condition.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research MAD2B acts as a negative regulatory partner of TCF4 on proliferation in human dermal papilla cells
MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
research The efficacy and safety of tofacitinib in patients with alopecia totalis
Tofacitinib is a potential alternative treatment for alopecia totalis, especially in patients with a shorter duration of the condition and more preserved hair follicles, but the overall response rate is low.
research 0885 The androgen-THY1 axis mediates sexual dimorphism in dermal adipogenesis and fibrosis
Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.
research BMP2-mediated PTEN enhancement promotes differentiation of hair follicle stem cells by inducing autophagy
BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
research Frontal fibrosing alopecia associated with lichen planus pigmentosum
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research High Frequency of Symptomatic Zinc Deficiency in Infants in Northern Ethiopia
Many infants in Northern Ethiopia have zinc deficiency.
research Temporal Triangular Alopecia – A Diagnostic Dilemma: Case Series of Six Patients
Trichoscopy effectively diagnoses temporal triangular alopecia in children.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
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 Frontal Fibrosing Alopecia. An Example of Disrupted Aryl Hydrocarbon Receptor-Mediated Immunological Homeostasis in the Skin?
Excessive sun protection might contribute to frontal fibrosing alopecia.
research Targeting Endogenous Wnt Antagonists for Therapy Development in AGA: a Focus on DKKs and sFRPs
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Vitamin D-dependent Rickets Type II
A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
research Identification of a link between Wnt/β-catenin signalling and the cell fusion pathway
Wnt/β-catenin signaling is crucial for cell fusion in placental development.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Systemic Tofacitinib Treatment in Pediatric Patients with Resistant Alopecia Areata
Tofacitinib is a safe treatment for hair loss in children, but long-term use may be needed for best results.
research Skin iconography analysis of traumatic anserine folliculosis: Skin image feature of TAF
TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research Frontal fibrosing alopecia: A multicenter review of 355 patients
The study suggests hormonal factors may play a role in Frontal Fibrosing Alopecia and that treatments like oral antiandrogens and steroids could be beneficial.
research Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity
A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.