Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (592 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include hirsutism which is an androgen-dependent excess hair growth in women and children.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Hypertrichoses.
Where it fits in the MeSH classification
- Broader topics
- Hair Diseases
- See also
- Hirsutism
Related concepts
- Hirsutism
- Women
- Children
Research landscape
PubMed indexes 1,838 records tagged with the MeSH heading “Hypertrichosis” (counts retrieved 2026-11-04). 208 of them (11.3%) were published from 2020 onward, and the busiest period so far is through 1999 with 993 records.
Reviews account for 223 records (12.1%) and meta-analyses for 3. Randomized controlled trials number 11 (0.6%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 993 |
| 2000-2009 | 298 |
| 2010-2019 | 339 |
| 2020 onward | 208 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 223 | 12.1% |
| Meta-analyses | 3 | 0.2% |
| Randomized controlled trials | 11 | 0.6% |
Method: PubMed query "Hypertrichosis"[MeSH Terms] with publication-type and date filters, retrieved 2026-11-04.
Reading the evidence in bones, joints, muscles and skin
Joint, bone, muscle and skin conditions are often judged by pain scores, function questionnaires, imaging or photographs, and symptoms can fluctuate, so placebo response and natural improvement matter. Imaging changes are common in people without symptoms. Nothing on this page is advice about treatment. Check how outcomes were measured, whether the comparison group received a placebo or usual care, and how long the benefit lasted.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model | 2013 | Research article Design not recorded in structured metadata | 142 | cc by PMID 24339795 · DOI · PMC3854942 |
| Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis | 2012 | Research article Design not recorded in structured metadata | 61 | cc by PMID 23133399 · DOI · PMC3486859 |
| Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation | 2020 | Research article Design not recorded in structured metadata | 50 | cc by PMID 32483278 · DOI · PMC7264178 |
| Cantú Syndrome: A Poorly Understood Multi-Organ Disorder | 2026 | Review article Design not recorded in structured metadata | 0 | cc by PMID 42511666 · DOI · PMC13411887 |
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Transcellular Mg(2+) transport across epithelia, involving both apical entry and basolateral extrusion, is essential for magnesium homeostasis, but molecules involved in basolateral extrusion have not yet been identified.
- Closing excerpt
- These results demonstrate the crucial importance of Mg(2+) extrusion by CNNM4 in organismal and topical regulation of magnesium.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (154 words)
Transcellular Mg(2+) transport across epithelia, involving both apical entry and basolateral extrusion, is essential for magnesium homeostasis, but molecules involved in basolateral extrusion have not yet been identified. Here, we show that CNNM4 is the basolaterally located Mg(2+) extrusion molecule. CNNM4 is strongly expressed in intestinal epithelia and localizes to their basolateral membrane. CNNM4-knockout mice showed hypomagnesemia due to the intestinal malabsorption of magnesium, suggesting its role in Mg(2+) extrusion to the inner parts of body. Imaging analyses revealed that CNNM4 can extrude Mg(2+) by exchanging intracellular Mg(2+) with extracellular Na(+). Furthermore, CNNM4 mutations cause Jalili syndrome, characterized by recessive amelogenesis imperfecta with cone-rod dystrophy. CNNM4-knockout mice showed defective amelogenesis, and CNNM4 again localizes to the basolateral membrane of ameloblasts, the enamel-forming epithelial cells. Missense point mutations associated with the disease abolish the Mg(2+) extrusion activity. These results demonstrate the crucial importance of Mg(2+) extrusion by CNNM4 in organismal and topical regulation of magnesium.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 24339795 · DOI · PMC3854942
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Hereditary hypertrichoses are a group of hair overgrowth syndromes that are extremely rare in humans.
- Closing excerpt
- Our findings uncover a novel transcriptional hierarchy that regulates epithelial proliferation in the developing hair follicle and contributes to the pathology of hypertrichosis.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (145 words)
Hereditary hypertrichoses are a group of hair overgrowth syndromes that are extremely rare in humans. We have previously demonstrated that a position effect on TRPS1 is associated with hypertrichosis in humans and mice. To gain insight into the functional role of Trps1, we analyzed the late morphogenesis vibrissae phenotype of Trps1(Δgt) mutant mice, which is characterized by follicle degeneration after peg downgrowth has been initiated. We found that Trps1 directly represses expression of the hair follicle stem cell regulator Sox9 to control proliferation of the follicle epithelium. Furthermore, we identified a copy number variation upstream of SOX9 in a family with hypertrichosis that significantly decreases expression of the gene in the hair follicle, providing new insights into the long-range regulation of SOX9. Our findings uncover a novel transcriptional hierarchy that regulates epithelial proliferation in the developing hair follicle and contributes to the pathology of hypertrichosis.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 23133399 · DOI · PMC3486859
Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Histone H3 lysine 4 methylation (H3K4me) is extensively regulated by numerous writer and eraser enzymes in mammals.
- Closing excerpt
- Thus, our study uncovers common yet mutually suppressive aspects of the WDSTS and MRXSCJ models and provides a proof of principle for balancing a single writer-eraser pair to ameliorate their associated disorders.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (149 words)
Histone H3 lysine 4 methylation (H3K4me) is extensively regulated by numerous writer and eraser enzymes in mammals. Nine H3K4me enzymes are associated with neurodevelopmental disorders to date, indicating their important roles in the brain. However, interplay among H3K4me enzymes during brain development remains largely unknown. Here, we show functional interactions of a writer-eraser duo, KMT2A and KDM5C, which are responsible for Wiedemann-Steiner Syndrome (WDSTS), and mental retardation X-linked syndromic Claes-Jensen type (MRXSCJ), respectively. Despite opposite enzymatic activities, the two mouse models deficient for either Kmt2a or Kdm5c shared reduced dendritic spines and increased aggression. Double mutation of Kmt2a and Kdm5c clearly reversed dendritic morphology, key behavioral traits including aggression, and partially corrected altered transcriptomes and H3K4me landscapes. Thus, our study uncovers common yet mutually suppressive aspects of the WDSTS and MRXSCJ models and provides a proof of principle for balancing a single writer-eraser pair to ameliorate their associated disorders.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 32483278 · DOI · PMC7264178
Cantú Syndrome: A Poorly Understood Multi-Organ Disorder [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Cantú syndrome (CS) comprises a group of rare multisystem and multi-organ diseases characterized by congenital hypertrichosis, facial dysmorphism, cardiomegaly, and skeletal abnormalities, as well as other clinical manifestations.
- Closing excerpt
- Herein, we summarize reported knowledge about CS, including its epidemiology, definition, clinical features, diagnosis, and treatment.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (144 words)
Cantú syndrome (CS) comprises a group of rare multisystem and multi-organ diseases characterized by congenital hypertrichosis, facial dysmorphism, cardiomegaly, and skeletal abnormalities, as well as other clinical manifestations. The current understanding of CS is limited. It is easy to misdiagnose it due to its diverse clinical manifestations and a lack of awareness of the condition. Currently, it is thought that this disorder is inherited in an autosomal dominant manner and caused by mutations in the ATP-sensitive potassium (KATP) channel, which plays a vital role in both cardiovascular diseases and diabetes. There are currently no effective or specific treatments for CS, and there is a lack of research on the mechanisms of and therapy for this disease. Therefore, it is essential to raise awareness and educate people on CS. Herein, we summarize reported knowledge about CS, including its epidemiology, definition, clinical features, diagnosis, and treatment.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42511666 · DOI · PMC13411887
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article KATP channels and cardiovascular disease: suddenly a syndrome [5]
- Research article Prostaglandin-induced hair growth [6]
- Research article THE SYNDROMES OF TOTAL LIPODYSTROPHY AND OF PARTIAL LIPODYSTROPHY [7]
- Research article Hypertrichosis [8]
- Research article ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target [9]
- Research article Hypertrichosis in females applying minoxidil topical solution and in normal controls [10]
References
- Yamazaki D, Funato Y, Miura J, Sato S, Toyosawa S, Furutani K, et al.. Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model. . 2013. PMID 24339795 · DOI · PMC3854942
- Fantauzzo KA, Kurban M, Levy B, Christiano AM. Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. . 2012. PMID 23133399 · DOI · PMC3486859
- Vallianatos CN, Raines B, Porter RS, Bonefas KM, Wu MC, Garay PM, et al.. Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation. . 2020. PMID 32483278 · DOI · PMC7264178
- He S, Hu D, Nichols CG, Huang Y. Cantú Syndrome: A Poorly Understood Multi-Organ Disorder. . 2026. PMID 42511666 · DOI · PMC13411887
- Nichols CG, Singh GK, Grange DK. KATP channels and cardiovascular disease: suddenly a syndrome. Circ Res. 2013. PMID 23538276 · DOI · PMC3660033
- Johnstone MA, Albert DM. Prostaglandin-induced hair growth. Surv Ophthalmol. 2002. PMID 12204716 · DOI
- SENIOR B, GELLIS SS. THE SYNDROMES OF TOTAL LIPODYSTROPHY AND OF PARTIAL LIPODYSTROPHY. Pediatrics. 1964. PMID 14170857 · DOI
- Wendelin DS, Pope DN, Mallory SB. Hypertrichosis. J Am Acad Dermatol. 2003. PMID 12582385 · DOI
- Nelson PT, Jicha GA, Wang WX, Ighodaro E, Artiushin S, Nichols CG, et al.. ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target. Ageing Res Rev. 2015. PMID 26226329 · DOI · PMC4661124
- Dawber RP, Rundegren J. Hypertrichosis in females applying minoxidil topical solution and in normal controls. J Eur Acad Dermatol Venereol. 2003. PMID 12702063 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.