research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
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630-660 / 1000+ results research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Decision letter: Dynamics of nevus development implicate cell cooperation in the growth arrest of transformed melanocytes
Moles may stop growing due to cell cooperation, not just because of individual cell aging.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Obstetric and Gynecologic Dermatology
A pregnant woman's skin condition improved after giving birth, possibly due to high estrogen levels during pregnancy.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research Melatonin: A Cutaneous Perspective on its Production, Metabolism, and Functions
Melatonin may benefit skin health and could be a promising treatment in dermatology.
research Skin Hyperpigmentation and Increased Angiogenesis Secondary to Vitamin B12 Deficiency in a Young Vegetarian Woman
Vitamin B12 deficiency can cause skin darkening and increased blood vessels, but treatment can improve symptoms.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin
Integrin-linked kinase is crucial for melanoblasts to properly colonize the skin.
research Grey hair: clinical investigation into changes in hair fibres with loss of pigmentation in a photoprotected population
Grey hair is wilder, drier, and less manageable than pigmented hair.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
Genes like MC1R, TYR, MITF, ASIP, and KIT determine horse and donkey coat colors and affect breeding and health.
research Finasteride Inhibits Melanogenesis throughthe Regulation of Melanocortin 1 Receptorin Melanocytes
Finasteride reduces melanin production in skin cells.
research 1272 p21Waf1/Cip1 is differentially expressed in epidermal versus follicular melanocytes and melanoma cells and is phenotypically regulated by UVB-mediated apoptosis
The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Silk Fibroin-Based Hydrogel Microneedles Deliver α-MSH to Promote Melanosome Delivery for Vitiligo Treatment
Silk fibroin microneedles can effectively treat vitiligo by promoting skin pigmentation.
research On the etiology of vitiligo and gray hair
Melanocytes are destroyed by factors needed for melanin production, causing vitiligo and gray hair.
research Follicular Atopic Dermatitis in Dark Skin
This document discusses a pediatric case of follicular atopic dermatitis (AD) in a dark-skinned patient, highlighting the unique clinical presentation that can complicate diagnosis. The patient exhibited purplish to brownish follicular scaly papules symmetrically distributed across the body. Dermoscopic examination showed a white-brown background, perifollicular desquamation, and multiple dotted vessels, while histopathology confirmed the diagnosis. The report underscores the need for awareness of these specific features in dark skin to enhance diagnostic accuracy and treatment.
research The RATIOnal Role of Polyamines in Epidermal Differentiation
Adjusting polyamine levels could help treat skin disorders like psoriasis and skin cancer.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Langerhans' Cells in Hair Follicles of the Depigmenting C57Bl/Ler-vit.vit Mouse
Langerhans' cells are not involved in hair depigmentation in these mice.
research Clinical Case Notes. Malignant melanoma in eviscerated eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
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.