Loose anagen hair in hypohidrotic ectodermal dysplasia.

Pediatr Dermatol

Department of Dermatology, Hospital Sant Joan, Reus, Spain.

Published: December 1996

We report a 4 year-old boy affected with hypohidrotic ectodermal dysplasia in whom loose anagen hair syndrome (LAHS) was suspected clinically. The diagnosis was confirmed by examination of hair by optic and scanning electron microscopy. Loose anagen hairs have not been previously described in the ectodermal dysplasias. It is possible that our patient had real LAHS or an ectodermal dysplasia with loose anagen hair as an epiphenomenon.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-1470.1996.tb01183.xDOI Listing

Publication Analysis

Top Keywords

loose anagen
16
anagen hair
12
ectodermal dysplasia
12
hypohidrotic ectodermal
8
dysplasia loose
8
loose
4
hair
4
hair hypohidrotic
4
ectodermal
4
dysplasia report
4

Similar Publications

Article Synopsis
  • Noonan syndrome (NS) and a related condition called Noonan-like syndrome with loose anagen hair (NS/LAH) are caused by changes in certain genes that affect how the body grows and develops.
  • A study looked at 25 patients with these syndromes, finding that they often have short stature and unique facial features, along with other health issues like heart defects and rare conditions.
  • The research also discovered that a small number of patients had an autoimmune disease called systemic lupus erythematosus (SLE), which might affect their quality of life, and they noted a rare urinary condition as well.
View Article and Find Full Text PDF

The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway.

Hum Mol Genet

September 2024

Department of Molecular and Cellular Biochemistry, University of Kentucky, 741 S Limestone St, Lexington, KY 40536, United States.

Article Synopsis
  • Shoc2 serves as a key scaffold protein in the EGFR-mediated ERK1/2 signaling pathway, crucial for transmitting signals, but its exact mechanisms are still unclear.
  • Variants of Shoc2 are associated with Noonan Syndrome with Loose anagen Hair, complicating the understanding of how these genetic changes affect Shoc2 function since it lacks known enzymatic activity.
  • The study finds that while Shoc2 variants fail to fully activate ERK1/2 when EGFR is the main pathway, they enhance ERK1/2 phosphorylation when the AKT pathway is also activated, indicating a complex feedback regulation in the signaling cascade.
View Article and Find Full Text PDF

Background: Triokinase and FMN cyclase (TKFC) is a bifunctional enzyme involved in fructose metabolism. Triokinase catalyses the phosphorylation of fructose-derived glyceraldehyde (GA) and exogenous dihydroxyacetone (DHA), while FMN cyclase generates cyclic FMN. TKFC regulates the antiviral immune response by interacting with IFIH1 (MDA5).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!