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

September 2017 in “ Archives of dermatological research ”

Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Imran Afzal, Asma Gul, Sumbal Khalid

ichthyosis syndromes hair abnormalities genetic mutations ST14 SPINK5 MBTPS2 profilaggrin processing protease inhibition follicular atrophoderma hypotrichosis photophobia acitretin narrowband UVB phototherapy UVB phototherapy

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

The document reviewed various forms of ichthyosis syndromes with a focus on hair abnormalities, discussing their management, pathogenesis, and molecular genetics. It highlighted genetic mutations in genes like ST14, SPINK5, and MBTPS2, which affect processes such as profilaggrin processing and protease inhibition. Clinical features included follicular atrophoderma, hypotrichosis, and photophobia. Potential treatments discussed were acitretin and narrowband UVB phototherapy. The review emphasized the complexity of these syndromes, the importance of early diagnosis, and the need for tailored therapeutic strategies.

View this study on link.springer.com →

Discuss this study in the Community →

Research cited in this study

12 / 12 results

research Inherited Ichthyosis: Syndromic Forms

47 citations , March 2016 in “Journal of dermatology”

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome

71 citations , January 2011 in “Orphanet Journal of Rare Diseases”

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

research New Clinico-Genetic Classification of Trichothiodystrophy

68 citations , August 2009 in “American Journal of Medical Genetics Part A”

A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.

research Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing

99 citations , October 2008 in “Journal of Investigative Dermatology”

Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.

research Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

55 citations , April 2008 in “Clinical Genetics”

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

research Matriptase: Potent Proteolysis on the Cell Surface

165 citations , January 2006 in “Molecular Medicine”

Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin

40 citations , August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.

research Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis

324 citations , May 2002 in “Oncogene”

research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings

124 citations , January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.

research Trichothiodystrophy: Review of Sulfur-Deficient Brittle Hair Syndromes and Association with the Ectodermal Dysplasias

144 citations , May 1990 in “Journal of the American Academy of Dermatology”

research Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms

175 citations , December 1980 in “Archives of Dermatology”

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

research A Unique Case of Trichorrhexis Nodosa: Bamboo Hairs

264 citations , October 1958 in “Archives of Dermatology”

A 4-year-old girl has a rare hair condition causing fragile, short hair.

Related Research

4 / 4 results

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 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 Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

55 citations , April 2008 in “Clinical Genetics”

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

research Ichthyosis Follicularis With Alopecia and Photophobia

75 citations , September 1985 in “Archives of dermatology”

Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.

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

Research cited in this study

research Inherited Ichthyosis: Syndromic Forms

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome

research New Clinico-Genetic Classification of Trichothiodystrophy

research Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing

research Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

research Matriptase: Potent Proteolysis on the Cell Surface

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin

research Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis

research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings

research Trichothiodystrophy: Review of Sulfur-Deficient Brittle Hair Syndromes and Association with the Ectodermal Dysplasias

research Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms

research A Unique Case of Trichorrhexis Nodosa: Bamboo Hairs

Related Community Posts Join

community Vitamin D - I was taking vitamin D last 6 month, my hair is back(4000UI daily)

Related Research

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

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

research Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

research Ichthyosis Follicularis With Alopecia and Photophobia