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GlossaryCongenital Ichthyosis (Autosomal Recessive Ichthyosis)

genetic skin disorder causing dry, scaly skin at birth

Congenital Ichthyosis, also known as Ichthyosis Congenita, is a group of rare genetic skin disorders present at birth, characterized by dry, scaly skin that resembles fish scales. These conditions result from mutations in genes responsible for skin barrier function, leading to abnormal skin shedding and thickening.

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A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

9 citations, March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis

6 citations, August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics”

New genetic mutations linked to rare skin disorders were found in three newborns.

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities

3 citations, September 2017 in “Archives of dermatological research”

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome

11 citations, December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin

10 citations, November 2018 in “Genetics in medicine”

Lack of cystatin M/E causes thin hair and dry skin.

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

26 citations, March 2012 in “Journal of Investigative Dermatology”

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders

43 citations, December 2013 in “Seminars in Cell & Developmental Biology”

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations, November 2011 in “The Journal of Dermatology”

Some hair loss disorders are caused by genetic mutations affecting hair growth.

research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders

25 citations, July 2019 in “Experimental Dermatology”

Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.

research Trichoscopy in Hair Shaft Disorders

36 citations, August 2018 in “Dermatologic Clinics”

Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.

research ST14 Interacts With TMEFF1 and Is a Predictor of Poor Prognosis in Ovarian Cancer

March 2024 in “BMC cancer”

High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.

research Matriptase Expression and Zymogen Activation in Human Pilosebaceous Unit

9 citations, September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry”

Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.

research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions

9 citations, August 2021 in “Journal of clinical medicine”

Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.

research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway

137 citations, October 2009 in “The American journal of pathology”

Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.

research Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits

18 citations, August 2018 in “The FASEB journal”

Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.

research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis

18 citations, January 2020 in “Acta dermato-venereologica”

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

research Clinical and Molecular Genetic Studies in Hereditary Hair Loss

August 2021

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two

66 citations, June 2018 in “British Journal of Dermatology”

European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.

research Congenital Atrichia and Hypotrichosis

11 citations, May 2011 in “World Journal of Pediatrics”

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

research Preparing the Hair Follicle Canal for Hair Shaft Emergence

5 citations, December 2020 in “Experimental dermatology”

A specific type of skin cell creates an opening for hair to grow out, and problems with this process can lead to skin conditions.

research Hair Disorders

November 2019 in “Harper's Textbook of Pediatric Dermatology”

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

research References

January 2018

Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide

research Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide

August 2024 in “Veterinary Dermatology”

Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.

research Recent Advances in Congenital Ichthyoses

10 citations, July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics”

New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.

research The Genetics of Hair Shaft Disorders

59 citations, June 2008 in “Journal of The American Academy of Dermatology”

The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.

research Index

September 2019

The document is a detailed guide on skin conditions and treatments for dermatologists.

research Hair Loss in Children: Diagnosis and Treatment

24 citations, January 2015 in “Current problems in dermatology”

The document concludes that accurate diagnosis of hair loss in children is crucial due to limited treatment options and the condition's psychological impact.

research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations, July 2020 in “American journal of human genetics”

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.