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

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

Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello

congenital ichthyosis ABCA12 KRT1 ST14 Harlequin ichthyosis epidermolytic ichthyosis autosomal recessive ichthyosis with hypotrichosis next-generation sequencing CI HI EI ARIH NGS

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

The document is a case report on three unrelated Italian newborns with different forms of congenital ichthyosis (CI), a genetic disorder characterized by dry, scaling skin. Using next-generation sequencing (NGS), the study identified three novel mutations in the ABCA12, KRT1, and ST14 genes, respectively associated with Harlequin ichthyosis (HI), epidermolytic ichthyosis (EI), and autosomal recessive ichthyosis with hypotrichosis (ARIH). These mutations have not been previously reported. The study highlights the genetic diversity of CI and the importance of genetic testing in diagnosing and managing the condition. It also emphasizes the clinical relevance of NGS in guiding patient management.

View this study on ijponline.biomedcentral.com →

Discuss this study in the Community →

Research cited in this study

4 / 4 results

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.

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 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 Care of the Newborn with Ichthyosis

49 citations, January 2013 in “Dermatologic Therapy”

Newborns with ichthyosis need specific care based on their skin type.

Related Community Posts Join

6 / 12 results

community Boys,Thank you all. almost 90days into treatment. dut/minox/ketoconazole shampoo

in Progress Pictures 78 upvotes 1 month ago

The user is using oral dutasteride, topical minoxidil (Regaine foam 5%), and ketoconazole shampoo for hair loss, reporting good results with no significant side effects. The user is 26 years old and applies minoxidil once or twice daily.

community Finasteride and Dutasteride results compilation thread

in Finasteride/Dutasteride 80 upvotes 1 month ago

Combining finasteride and dutasteride may enhance hair regrowth by targeting different enzymes, with positive results reported. Minoxidil, both oral and topical, is also used to improve effectiveness.

community Diffuse hair loss and scalp biopsies

in Research 692 upvotes 4 months ago

Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.

community Stopping Dutasteride to have a baby

in Finasteride/Dutasteride 70 upvotes 1 month ago

A user plans to stop Dutasteride to conceive a child, seeking advice on hair maintenance. Suggestions include switching to Finasteride, but many emphasize prioritizing child safety.

community I will never more buy any hairloss traitements in public pharmacy

in Minoxidil 420 upvotes 2 months ago

A user was embarrassed by a pharmacist's loud mention of "minoxidil" for hair loss, sparking a discussion on the stigma and unprofessionalism. Users suggested online purchases or different pharmacies for privacy and reassured that most people don't notice others' purchases.

community I was on 2.5 mg oral minoxidil

in Progress Pictures 468 upvotes 5 months ago

User took 2.5 mg oral minoxidil, saw hair growth but stopped due to excessive body hair. Recently started finasteride and plans to update progress.

Similar Research

5 / 1000+ results

research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification

81 citations, June 2012 in “European journal of human genetics”

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

research A Human Prenatal Skin Cell Atlas Reveals Immune Cell Regulation of Skin Morphogenesis

October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)”

Immune cells are essential for early hair and skin development and healing.

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 Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins

1 citations, July 2021 in “IntechOpen eBooks”

Environmental factors can cause mutations in skin proteins, leading to skin disorders.

research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

21 citations, March 2018 in “American Journal Of Pathology”

Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.