research Integumentary System
The skin protects the body, helps with immunity, senses, temperature control, and makes vitamin D.
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270-300 / 1000+ results research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research 1200 The biology of melanocytes
Melanocytes are cells that make skin and hair color and help protect skin from sun damage.
research Adult Stem Cells as an Alternative Source of Multipotential (Pluripotential) Cells in Regenerative Medicine
Adult stem cells can become many different cell types, offering wide possibilities for repairing damaged tissues.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
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 Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
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 Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Prenatal transplantation of epidermal neural crest stem cells in malformation of cortical development mouse model
EPI-NCSCs from hair follicles may help treat brain development issues in mice.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
research Giant pigmented tumour of the scalp—a diffuse neurofibroma or a congenital naevus showing neurofibromatous changes? Immunohistochemical and electron microscopic studies
The tumor likely shows dual neural crest differentiation.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
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 A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.