research Inherited disorders of the skin in human and mouse: from development to differentiation.
Research on skin disorders in humans and mice has improved understanding of hair and skin development.
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research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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 A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research Human epidermal neural crest stem cells as a source of Schwann cells
Human Schwann cells can be quickly made from hair follicle stem cells for nerve repair.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinomas start in the skin and hair follicles.
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 Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Ectodysplasin Signaling in Cutaneous Appendage Development: Dose, Duration, and Diversity
Ectodysplasin signaling is crucial for skin appendage development, requiring specific doses and durations.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Neural crest cells and their potential therapeutic applications
Neural crest cells could be used in regenerative medicine due to their ability to become different cell types.
research The fundamentals of WNT10A
WNT10A is important for tissue development and linked to various human disorders.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
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 P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
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 Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.