research Lateral plate mesoderm directs human amnion and ventral skin organoid formation
Lateral plate mesoderm helps create skin and amnion-like tissues for studying development and therapies.
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570-600 / 1000+ resultsresearch A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Congenital triangular alopecia: Is it always confined to fronto-temporal region?
Congenital triangular alopecia can occur outside the typical fronto-temporal region.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia.
research EctopicAtoh1expression drives Merkel cell production in embryonic, postnatal and adult epidermis
Atoh1 expression can create new Merkel cells in the skin.
research A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.
research Hair in the Wrong Place
A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
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 A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
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 NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research A rare cutis verticis gyrata secondary to cerebriform intradermal nevus: case report and literature review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
research Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion
A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.