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Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A33:01 ; B14:02; C*08:02 as a genetic marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene

research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene

November 2022 in “Journal of Investigative Dermatology”

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

23 citations , July 2003 in “Journal of Investigative Dermatology”

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

Oncogenic Ras Mutation Induces Spatiotemporally Specific Tissue Deformation Through Converting Fluctuated Into Sustained ERK Activation

research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation

July 2022 in “Journal of Investigative Dermatology”

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm

January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis

August 2019 in “Anais Brasileiros de Dermatologia”

research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

3 citations , December 2014 in “Annals of Laboratory Medicine”

A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.

research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)

28 citations , June 1998 in “Clinical Genetics”

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation

6 citations , August 2020 in “JCRPE”

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

research Disease causing homozygous variants in the human hairless gene

7 citations , December 2015 in “International Journal of Dermatology”

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities

6 citations , May 2012 in “Archives of Dermatological Research”

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

research Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia

1 citations , October 2022 in “JCI insight”

Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.

Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene

research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene

1 citations , September 2011 in “Journal of Dermatology”

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

2 citations , April 2008 in “PubMed”

A gene mutation causes monilethrix in a Chinese family.

research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance

15 citations , June 2012 in “British Journal of Dermatology”

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population

15 citations , August 2013 in “Gene”

The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.

Recent Positive Selection of a Human Androgen Receptor/Ectodysplasin A2 Receptor Haplotype and Its Relationship to Male Pattern Baldness

research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness

42 citations , April 2009 in “Human Genetics”

A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.

research Male-pattern baldness susceptibility locus at 20p11

111 citations , October 2008 in “Nature Genetics”

Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.

research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness

299 citations , March 2001 in “Journal of Investigative Dermatology”

Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.

research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin

4 citations , October 2003 in “Annales de Génétique”

A specific gene mutation causes different hair defects in Indian monilethrix families.

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

3 citations , February 2011 in “Journal of Biomedical Research/Journal of biomedical research”

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism

June 2025 in “British Journal of Dermatology”

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

research The urine as a diagnostic key for a homozygous EGFR mutation

2 citations , March 2022 in “Portuguese Journal of Nephrology & Hypertension”

A rare EGFR mutation in newborns leads to severe health issues and early death.

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

43 citations , September 2001 in “Annals of Neurology”

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

83 citations , October 1998 in “The American Journal of Human Genetics”

A specific gene mutation causes complete hair loss in an Irish Traveller family.

research Linear and Unilateral Basaloid Follicular Hamartoma Along Blaschko’s Lines in an Elderly Patient: A Rare Presentation

June 2025 in “Indian Journal of Dermatology”

This article reports a rare case of linear and unilateral basaloid follicular hamartoma (BFH) in a 68-year-old male, presenting as asymptomatic skin-colored to brown papules and plaques along Blaschko’s lines. BFH is a rare follicular hamartoma that can appear in various forms, including congenital, familial, sporadic, or acquired. The patient's lesions were examined using dermoscopy and histopathology, revealing basaloid and squamoid proliferation of epithelial cells. The condition was diagnosed as BFH, and radio-frequency ablation was planned for treatment. BFH can be mistaken for other conditions like basal cell carcinoma due to similar histological features, but it lacks systemic associations and malignant potential. There is no standard treatment protocol, but timely identification and intervention are crucial to prevent complications.

research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

3 citations , January 2008 in “Endocrine journal”

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.

4 citations , May 1998 in “PubMed”

The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.

research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome

62 citations , March 2017 in “Journal of Investigative Dermatology”

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

3 citations , February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

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