research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
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690-720 / 1000+ resultsresearch Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Dermatologic manifestations of endocrine disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Congenital and Hereditary Skin Diseases
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
research Dermoscopy to the rescue
Dermoscopy helps accurately diagnose and treat benign skin cysts.
research Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
research Outer root sheath (ORS) cells organize into epidermoid cyst-like spheroids when cultured inside Matrigel: a light-microscopic and immunohistological comparison between human ORS cells and interfollicular keratinocytes
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia
UTX is crucial for skin differentiation and health, especially in females.
research In vivo effects of epidermal growth factor on epidermal pattern formation and hair follicle initiation in the marsupial bandicoot Isoodon macrourus
Epidermal growth factor disrupts hair and gland formation in bandicoots.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
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 Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Eruptive vellus hair cysts in an unusual location with atypical pathological features
A young man had a rare case of hair cysts on his elbows, which was hard to diagnose and treat.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Dermal Adnexal Neoplasms: Exploring Rare Variants and Their Clinical Behavior
Histopathology is crucial for accurately diagnosing and predicting outcomes of skin adnexal tumors.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Scalp whorls
Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research MOST IMPORTANT SKIN DISEASES OF CHILDRENTheir Diagnosis and Treatment
Children's skin diseases need special care and treatment.
research 565 hiPSC-derived skin organoids as tools for disease modelling: characterization of the epidermal-dermal junction
Human-induced stem cell-created skin models can help understand skin diseases by studying the skin's layers.