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research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement

May 2026 in “Frontiers in Medicine”

This case report describes a 29-year-old man with a Rothmund–Thomson syndrome-like phenotype, who exhibited lifelong sparse scalp hair and other symptoms, and was found to have a variant of uncertain significance in the ANAPC1 gene. After undergoing combination therapy, the patient showed increased hair density and shaft thickness after 6 months. Although this observation suggests a potential link between the ANAPC1 variant and hair improvement, it does not establish a definitive genotype–phenotype correlation. The case highlights the potential benefits of symptomatic management in complex genodermatoses, despite the lack of a confirmed molecular diagnosis, and calls for further research to validate the pathogenicity of the ANAPC1 variant.

research Collagen-Heparin-FGF2-VEGF Scaffolds Induce a Regenerative Gene Expression Profile in a Fetal Sheep Wound Model

9 citations , August 2024 in “Tissue Engineering and Regenerative Medicine”

Collagen-heparin-FGF2-VEGF scaffolds can improve skin healing.

research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions

May 2026 in “Research Square”

The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.

research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organ

22 citations , June 2020 in “iScience”

Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.

research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

71 citations , February 2012 in “The American Journal of Human Genetics”

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Rothmund-Thomson Syndrome With Late Onset and Effective Preventive Control of Non-Melanoma Cancer With Acitretin: Case Report

research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report

August 2024 in “Journal of Dermatology & Cosmetology”

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

research Identification of ultraviolet B radiation-induced microRNAs in normal human dermal papilla cells

18 citations , July 2014 in “Molecular Medicine Reports”

UVB radiation changes the levels of certain microRNAs in skin cells, which may affect cell survival and hair growth.

Combinatorial Expression of Cell Cycle Regulators Is More Suitable for Immortalization Than Oncogenic Methods in Dermal Papilla Cells

research Combinatorial expression of cell cycle regulators is more suitable for immortalization than oncogenic methods in dermal papilla cells

5 citations , January 2021 in “iScience”

Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.

Modeling Androgen Synthesis and Action During Human Sexual Differentiation

research Modelling androgen synthesis and action during human sexual differentiation

February 2010 in “ePrints Soton (University of Southampton)”

Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.

research Table_1_Bioinformatics and Network Pharmacology Identify the Therapeutic Role and Potential Mechanism of Melatonin in AD and Rosacea.xlsx

November 2021 in “OPAL (Open@LaTrobe) (La Trobe University)”

Melatonin may treat rosacea and Alzheimer's by reducing inflammation and affecting blood vessel growth.

research Priming mobilization of hair follicle stem cells triggers permanent loss of regeneration after alkylating chemotherapy

32 citations , August 2019 in “Nature Communications”

Chemotherapy causes permanent hair follicle damage by triggering stem cell loss.

Novel circRNAs From Cashmere Goats: Discovery, Integrated Regulatory Network, and Their Putative Roles in the Regeneration and Growth of Secondary Hair Follicles

research Novel circRNAs from cashmere goats: Discovery, integrated regulatory network, and their putative roles in the regeneration and growth of secondary hair follicles

7 citations , June 2022 in “Czech Journal of Animal Science”

Certain circular RNAs help cashmere goats grow more hair.

research Mediator 1 ablation induces enamel-to-hair lineage conversion in mice through enhancer dynamics

1 citations , July 2023 in “Communications biology”

Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.

research Protein degradation: expanding the toolbox to restrain cancer drug resistance

7 citations , January 2023 in “Journal of Hematology & Oncology”

Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.

research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia

January 2014

A specific gene change in APCDD1 increases the risk of hair loss.

research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus

184 citations , September 2006 in “PLoS Genetics”

The Apc gene is crucial for normal skin and thymus development.

research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

199 citations , April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia

January 2014 in “生命科学（ISSN1934-7391）”

A certain gene variation can affect protein production and is linked to male pattern baldness.

research Genetic mapping of hair loss through the APCDD1 gene pathway: A new perspective

April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine”

Understanding the APCDD1 gene can lead to new hair loss treatments.

research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

26 citations , September 2009 in “Clinical genetics”

Arab APS1 patients have unique and recurrent AIRE gene mutations.

research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

April 2026 in “Human Genome Variation”

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

11 citations , February 2011 in “The Journal of Dermatology”

Mutations in the hairless gene cause a rare form of permanent hair loss.

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

7 citations , January 2018 in “Neurodegenerative Diseases”

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

research Deciphering the pathogenesis of central centrifugal cicatricial alopecia

September 2019

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia

September 2019 in “Journal of Investigative Dermatology”

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

11 citations , January 2021 in “British Journal of Dermatology”

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl

research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl

6 citations , January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

23 citations , December 2013 in “British Journal of Dermatology”

A new gene mutation linked to a skin condition was found in a Spanish family.

research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene

20 citations , August 2003 in “Clinical and Experimental Dermatology”

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

3 citations , January 2013 in “Dermatology”

New genetic mutations causing hair loss were found in a Chinese family.