hypotrichosis การใช้

• Affected individuals tend to have sparse scalp and body hair ( hypotrichosis ).
• Physical findings typically include follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, and hypohidrosis.
• Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
• So we call impotence " erectile dysfunction, " baldness " hypotrichosis, " and so on.
• Without Hypotrichosis ( MDWH ) patients are unable to produce normal, new tubular structures in the "'metaphyses "'of long bones.
• ADULT syndrome features include ectrodactyly, syndactyly, excessive hypoplastic breasts and nipples, hypotrichosis, hypohidrosis, broad nasal bridge, midfacial hypoplasia, exfoliative dermatitis, and xerosis.
• A nonsense mutation in the DSC3 gene ( 600271.0001 ) mapping to chromosome 18q12.1 was identified in the onsanguineous Afghan family with hypotrichosis and recurrent skin vesicles ( 613102 ).
• The opposite of hypotrichosis is hypertrichosis, where terminal hair ( thick ) grows in areas that would otherwise normally have vellus hair ( thin ), for example abnormally thick facial hair growth in women.
• "' Hypotrichosis with juvenile macular dystrophy "'( "'HJMD "'or "'CDH3 "') is an extremely rare congenital disease characterized by sparse hair growth ( hypotrichosis ) from birth and progressive macular corneal dystrophy.
• "' Hypotrichosis with juvenile macular dystrophy "'( "'HJMD "'or "'CDH3 "') is an extremely rare congenital disease characterized by sparse hair growth ( hypotrichosis ) from birth and progressive macular corneal dystrophy.
• Roberts syndrome is also known by many other names, including : Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome ( once thought to be an entirely separate disease ), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome.
• They have physical abnormalities including a large head ( macrocephaly ), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles, hollow cheeks ( malar hypoplasia ), general loss of fat tissues under the skin ( lipoatrophy ), delayed tooth eruption, abnormal hair pattern ( hypotrichosis ), beaked nose, mild to severe mental retardation and dysmorphism.
• In affected members of this family with hypotrichosis were homozygous for a 2129T-G transversion in exon 14 of the DSC3 gene, resulting in a leu710-to-ter ( L710X ) ( Ayub et al . 2009 ) substitution at the junction of the transmembrane and the C-terminal cytoplasmic domain, predicted to cause premature termination and nonsense mediated decay of the mRNA or instability of the truncated protein.