Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

The genetics of hair shaft disorders

“…77,78 This protein has been found to participate in ultraviolet light repair and maintainence of TFIIH levels. A mutation of the gene for TTD-A leads to decreased intracellular TFIIH levels, 35,79 which is similar to TTD patients with XPB and XPD gene defects. 77,78,80 It has been theorized that different XP gene mutations cause varying defects in DNA repair and/or gene transcription, leading to the pathognomonic presentations in each syndrome.…”

“…34,35,59,[81][82][83][84][85][86][87][88][89][90][91][92][93] In a small group of patients, elevated temperatures can cause in vitro instability of TFIIH. 35,79,88,94 It has been suggested that fever may cause worsening of TTD features in subgroups of patients.…”

A case of ectopic cilia in nail–patella syndrome

“…Hair and nails are skin appendages that share common developmental pathways and may be affected in a wide variety of genodermatoses [7]. In these conditions there may be prominent hair abnormalities, prominent nail abnormalities or a combination of these [8].…”

“…NPS is predominantly a disorder of the nails, but hair growth and distribution may also be affected, with the possibility of females having a prominent forehead and high hairline, resembling a receding male pattern, particularly at the temples [3]. Research into other hair and nail genodermatoses has elucidated the roles and basic molecular mechanisms underlying the morphogenesis, differentiation and cycling of the hair follicle, and established that mutations in specific genes that encode structural molecules, transcription factors and adhesion molecules of the hair follicle can result in specific phenotypes [7]. Certainly, the LMX1B gene encodes a protein that is known to be important in dorsoventral patterning and regulates the coordinated expression of type IV collagen [7].…”

“…Research into other hair and nail genodermatoses has elucidated the roles and basic molecular mechanisms underlying the morphogenesis, differentiation and cycling of the hair follicle, and established that mutations in specific genes that encode structural molecules, transcription factors and adhesion molecules of the hair follicle can result in specific phenotypes [7]. Certainly, the LMX1B gene encodes a protein that is known to be important in dorsoventral patterning and regulates the coordinated expression of type IV collagen [7]. In conclusion, it is therefore conceivable that the same genetic anomaly causing nail, patellar and renal anomalies in NPS is the same anomaly resulting in ectopic cilia in this child.…”