Skip to search formSkip to main contentSkip to account menu

Ichthyosis with hypotrichosis, autosomal recessive

Known as: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS, Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis 
National Institutes of Health

Related topics

Related topics

9 relations
Autosomal recessive inheritanceBlepharitisCongenital Nonbullous Ichthyosiform ErythrodermaHyperkeratosis

Broader (2)

HypotrichosisIchthyoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
The spatiotemporal control of human matriptase action on its physiological substrates: a case against a direct role for matriptase proteolytic activity in profilaggrin processing and desquamation
Studies of human genetic disorders and animal models indicate that matriptase plays essential roles in proteolytic processes… 
2018
2018
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
BackgroundAutosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400) syndrome is characterized by diffused congenital… 
2017
2017
Lichenoid folliculitis: A unifying concept
Skin diseases presenting with keratotic papules, atrophy, cicatricial alopecia and/or “lichenoid” histopathologic changes have… 
2014
2014
Keratosis Pilaris Atrophicans
Keratosis pilaris atrophicans faciei (KPAF), also commonly known as ulerythema ophryogenes, is a rare disorder characterized by… 
2013
2013
Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes
Genetic defects in matriptase are linked to two congenital ichthyosis, autosomal recessive ichthyosis with hypotrichosis (ARIH… 
2013
2013
Identification of SGS 1609 Cellulolytic Bacteria Isolated from Sargassum spec. and Characterization of The Cellulase Produced
Bacterial isolate from seaweed designated as SGS 1609 was previously found to be able to produce cellulase represented by… 
2012
2012
[Role of vaccination in animal health].
According to the IFAH, veterinary vaccines currently account for 26% of the global market in veterinary medicines, reflecting the… 
Highly Cited
2008
Highly Cited
2008
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair… 
Highly Cited
2007
Highly Cited
2007
Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice*
Human autosomal recessive ichthyosis with hypotrichosis (ARIH) is an inherited disorder recently linked to homozygosity for a… 
1998
1998
Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)