research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
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research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
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 Trichostasis Spinulosa
The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
research Hairy nodule: A rare case report
A woman had a rare, non-cancerous skin growth on her face, which was removed and did not come back after a year.
research Rare case of recurrent hair in the floor of the mouth
Hair grew in a man's mouth due to a rare condition called heterotopia.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.