Telogen hair loss and androgenetic‐like alopecia in <scp>GAPO</scp> syndrome

Ahmed, Burhan Mohamed Ali; Gritli, Sami

doi:10.1111/ajd.12937

Cited by 2 publications

(1 citation statement)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although few histopathological analyses have been reported for patients with GAPO 37 , the dermis of one patient with GAPO was shown to have abundant hyaline material with increased collagenous fibers 48 , suggesting that, like HFS (the earliest histopathological analyses 72 to the latest 73 ), GAPO is a disease of the connective tissue. This increased ECM could interfere in the development and cycling of the hair follicles 74 but this is still unproven.…”

Section: Converging Physiological Functions Of Anthrax Toxin Receptorsmentioning

confidence: 99%

Converging physiological roles of the anthrax toxin receptors

Sergeeva

Goot

2019

F1000Res

View full text Add to dashboard Cite

The anthrax toxin receptors—capillary morphogenesis gene 2 (CMG2) and tumor endothelial marker 8 (TEM8)—were identified almost 20 years ago, although few studies have moved beyond their roles as receptors for the anthrax toxins to address their physiological functions. In the last few years, insight into their endogenous roles has come from two rare diseases: hyaline fibromatosis syndrome, caused by mutations in CMG2, and growth retardation, alopecia, pseudo-anodontia, and optic atrophy (GAPO) syndrome, caused by loss-of-function mutations in TEM8. Although CMG2 and TEM8 are highly homologous at the protein level, the difference in disease symptoms points to variations in the physiological roles of the two anthrax receptors. Here, we focus on the similarities between these receptors in their ability to regulate extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity. In this way, we shed light on how mutations in these two related proteins cause such seemingly different diseases and we highlight the existing knowledge gaps that could form the focus of future studies.

show abstract