research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
Search
for
Sort by
Research
510-540 / 1000+ resultsresearch Dermatoglyphic patterns in androgenetic alopecia in a South Eastern Nigerian population
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.
research Pseudopili Annulati in a Dark‐Haired Individual: A Light and Electron Microscopic Study
A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
research Le tégument des vertèbres et la spécification de l'épithélium cornéen
The cornea develops independently of the lens, following its own default pathway.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Scanning electron microscopic features of the ovine interdigital sinus
The ovine interdigital sinus has a complex structure with three layers and various skin-like features.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Targeting ornithine decarboxylase can help prevent skin cancer.
research 0882 Patterning and regional specification of hairy skin
Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Epidermal cyst containing numerous spherules of keratin
The cyst had unusual keratin spherules and resembled bone marrow.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Trichonodosis: a case report and literature review
Topical minoxidil can help improve hair in trichonodosis.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research 707 Chromatin remodeler Lymphoid-specific helicase (Lsh) is a critical determinant controlling postnatal epidermal growth, differentiation and response to injury
Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Evo Devo of the Vertebrates Integument
The skin systems of jawed vertebrates evolved diverse appendages like hair and scales from a common structure over 420 million years ago.
research ALOPECIA X IN GERMAN SPITZ RESPONSIVE TO ORCHIECTOMY ASSOCIATED WITH THE USE OF MELATONIN: CASE REPORT
Orchiectomy and melatonin helped a German Spitz regrow hair lost due to alopecia X.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
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 In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Heterogeneous red–white discoloration of the nail bed and distal onycholysis in a patient with COVID‐19
A COVID-19 patient had unusual nail discoloration and nail separation possibly due to the virus's effects on small blood vessels.