research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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660-690 / 1000+ resultsresearch Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research A Combination Flap for Repair of Eclabium
research Lymphotoxin-β regulates periderm differentiation during embryonic skin development
Lymphotoxin-β is crucial for proper skin development in embryos.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse
The Celsr1 gene is crucial for normal hair patterning in mice.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research Pediatric Radiation-Induced Alopecia Post Intracranial Vascular Malformation Embolization: A Case Report with Dermoscopic Findings
A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
research 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.