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Pigmentary Disorders: Melasma, solar lentigines, and hyperpigmentation
doi: 10.1111/febs.16208 71 KawabataH
Incidence of JEB in England and Wales (8.9 per million live births) was similar to those from the Netherlands and the U.S., but a study from Germany reported a higher incidence of JEB (14.23 per million live births).[130,131] JEB results in considerable mortality, with approximately 50% of cases dying within the first year of life.[152] Pathogenic variants in COL17A1 or in any of the genes encoding laminin 332 and its three subunits, previously known as laminin 5 ( LAMA3 , LAMB3 , LAMC2 ) can result in JEB.[153-155] Individuals with a severe form of JEB, called the Herlitz type, have an 18% cumulative risk of developing SCC by age 25 years.[156] A study of COL17A1 in individuals with a milder subtype of JEB, called JEB-other, identified 85 pathogenic variants in 86 alleles from 43 individuals.[157] In this study, total loss of COL17A1 protein staining was associated with a severe JEB phenotype
M., Shaglouf, L
It is thus reasonable to consider its use, particularly if tubal patency testing is required, for those with endometriosis who wish to conceive without using ART
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