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Published in Ashfaq A Marghoob, Ralph Braun, Natalia Jaimes, Atlas of Dermoscopy, 2023
Anna Waśkiel-Burnat, Lidia Rudnicka, Małgorzata Olszewska, Adriana Rakowska, Ralph M. Trüeb, Isabel Kolm
Pili canaliculi et trianguli refers to the triangular hair shafts with longitudinal grooving underlying this uncombable hair syndrome. This feature can only be observed by videodermoscopy at higher magnification (50-fold and higher).
Hair disorders (trichoscopy)
Published in Aimilios Lallas, Enzo Errichetti, Dimitrios Ioannides, Dermoscopy in General Dermatology, 2018
Adriana Rakowska, Lidia Rudnicka
Congenital hair shaft abnormalities such as monilethrix (Figure 15.17), trichorhexis invaginata (Figure 15.18), pili torti (Figure 15.19), pili annulati, uncombable hair syndrome (pili trianguli et canaliculi), and trichorrhexis nodosa can be easily recognized with trichoscopy.74–77 Other specific conditions for children include aplasia cutis congenita (ACC), temporal triangular alopecia (TTA), and loose anagen hair syndrome (LAHS).
A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia
Published in Current Eye Research, 2020
Aixia Jin, Yu Zhang, Dongchang Xiao, Mengqing Xiang, Kangxin Jin, Mingbing Zeng
By using the whole exome sequencing to search for the causative gene(s), mutations in genes CRYBB1, PLK4, SALL2, TGM3, APRT, LONP1, GNAS, FBN1, HSPG2, etc. were found in the proband, but only CRYBB1 and TGM3 mutations were shared by all affected individuals. However, the TGM3 heterozygous mutation (c.1460T>C) was also found in the unaffected individual IV:3. The TGM3 mutations are known to be recessive mutations causing the Uncombable Hair Syndrome, and therefore TGM3 was ruled out as the causative gene. A point mutation c.279C>G in CRYBB1 gene was identified to be present in all affected individuals but not in unaffected individuals. The mutation was further verified by direct Sanger sequencing (Figure 2b). The c.279C residue is completely conserved in all human genomes, as shown in supplementary Figure S1. There is no single nucleotide polymorphism (SNP) associated with the site. The possibility of SNP was further ruled out by examinations in 1000 Genomes Project,23 the Exome Aggregation Consortium,24 the Exome Variant Server/NHLBI GO Exome Sequencing Project (ESP) (http://evs.gs.washington.edu/EVS/) and other online resources.