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Frontiers in Medicine 2024Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no....
Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no. 278150/604379/616760) has been reported to be caused by variants in genes coding lysophosphatidic acid receptor 6 (), lipase H (), or keratin 25 (). In this study, we conducted a scanning electron microscopic (SEM) examination of the hair of a 3-year-old Japanese ARWH patient. The SEM revealed that her affected hair had an irregular and rough cuticle compared to her mother's hair. Many irregular small projections and longitudinal grooves were seen on the surface of the patient's hair shaft, and some free margins of the hair cortex were raised or serrated. Her hairs were oval-shaped on the cross-section. Mutation analysis revealed a homozygous pathogenic variant (c.736 T > A; Cys246Ser) in exon 6 in . In our clinic, we identified three additional cases with the homozygous Cys246Ser variant and one case with compound heterozygous variants in : Cys246Ser and c.671C > G (Pro224Arg). Consequently, genetic analyses, including genotype-phenotype correlation involving rare variants, have become more crucial in the Japanese population.
PubMed: 38818404
DOI: 10.3389/fmed.2024.1374222 -
Journal of Medicine and Life Feb 2024Post-combustion alopecia presents a complex medical challenge with implications spanning dermatological and psychiatric disorders. The use of hair transplantation has...
Post-combustion alopecia presents a complex medical challenge with implications spanning dermatological and psychiatric disorders. The use of hair transplantation has proven to be a significant improvement for this condition. However, the current management involves various techniques, each with advantages and disadvantages. Progressive skin expansions, surgical scar reduction, and skin grafts containing hair follicles yield unsatisfactory aesthetic outcomes and have limited applicability as a first-line treatment for fire victims. So far, follicular unit extraction (FUE) has proven to be one of the most versatile procedures in such cases, having the potential to restore a natural anatomical profile closely resembling the pre-traumatic appearance that led to the traumatic alopecia. Additionally, it contributes to the improvement of associated psychiatric comorbidities, facilitating proper social reintegration and enhancing overall quality of life. This report focuses on a case of post-combustion alopecia and severe facial distortion due to third-degree burns resulting in severe psychiatric comorbidities, which benefited from a proper social reintegration and improvement of the quality of life after three consecutive sessions of FUE for scalp and eyebrow hair.
Topics: Humans; Alopecia; Scalp; Skin Transplantation; Plastic Surgery Procedures; Quality of Life; Adult; Male; Hair; Hair Follicle; Female; Face; Burns
PubMed: 38813359
DOI: 10.25122/jml-2023-0492 -
Pharmaceuticals (Basel, Switzerland) Apr 2024Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and... (Review)
Review
BACKGROUND
Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and beyond. Originally developed as an ocular hypotensive agent, it has proven highly effective in treating glaucoma and ocular hypertension. Its ability to reduce intraocular pressure has established it as a first-line treatment option, improving management and preventing vision loss. In dermatology, bimatoprost has shown promising results in the promotion of hair growth, particularly in the treatment of alopecia and hypotrichosis. Its mechanism of action, stimulating the hair cycle and prolonging the growth phase, has led to the development of bimatoprost-containing solutions for enhancing eyelash growth.
AIM
The aim of our review is to provide a brief description, overview, and studies in the current literature regarding the versatile clinical use of bimatoprost in recent years. This can help clinicians determine the most suitable individualized therapy to meet the needs of each patient.
METHODS
Our methods involve a comprehensive review of the latest advancements reported in the literature in bimatoprost formulations, which range from traditional eye drops to sustained-release implants. These innovations offer extended drug delivery, enhance patient compliance, and minimize side effects.
RESULTS
The vast literature published on PubMed has confirmed the clinical usefulness of bimatoprost in lowering intraocular pressure and in managing patients with glaucoma. Numerous studies have shown promising results in dermatology and esthetics in promoting hair growth, particularly in treating alopecia and hypotrichosis. Its mechanism of action involves stimulating the hair cycle and prolonging the growth phase, leading to the development of solutions that enhance eyelash growth. The global use of bimatoprost has expanded significantly, with applications growing beyond its initial indications. Ongoing research is exploring its potential in glaucoma surgery, neuroprotection, and cosmetic procedures.
CONCLUSIONS
Bimatoprost has shown immense potential for addressing a wide range of therapeutic needs through various formulations and advancements. Promising future perspectives include the exploration of novel delivery systems such as contact lenses and microneedles to further enhance drug efficacy and patient comfort. Ongoing research and future perspectives continue to shape its role in medicine, promising further advancements and improved patient outcomes.
PubMed: 38794131
DOI: 10.3390/ph17050561 -
Molecules (Basel, Switzerland) May 2024This narrative review aims to examine the therapeutic potential and mechanism of action of plant extracts in preventing and treating alopecia (baldness). We searched and... (Review)
Review
This narrative review aims to examine the therapeutic potential and mechanism of action of plant extracts in preventing and treating alopecia (baldness). We searched and selected research papers on plant extracts related to hair loss, hair growth, or hair regrowth, and comprehensively compared the therapeutic efficacies, phytochemical components, and modulatory targets of plant extracts. These studies showed that various plant extracts increased the survival and proliferation of dermal papilla cells in vitro, enhanced cell proliferation and hair growth in hair follicles ex vivo, and promoted hair growth or regrowth in animal models in vivo. The hair growth-promoting efficacy of several plant extracts was verified in clinical trials. Some phenolic compounds, terpenes and terpenoids, sulfur-containing compounds, and fatty acids were identified as active compounds contained in plant extracts. The pharmacological effects of plant extracts and their active compounds were associated with the promotion of cell survival, cell proliferation, or cell cycle progression, and the upregulation of several growth factors, such as IGF-1, VEGF, HGF, and KGF (FGF-7), leading to the induction and extension of the anagen phase in the hair cycle. Those effects were also associated with the alleviation of oxidative stress, inflammatory response, cellular senescence, or apoptosis, and the downregulation of male hormones and their receptors, preventing the entry into the telogen phase in the hair cycle. Several active plant extracts and phytochemicals stimulated the signaling pathways mediated by protein kinase B (PKB, also called AKT), extracellular signal-regulated kinases (ERK), Wingless and Int-1 (WNT), or sonic hedgehog (SHH), while suppressing other cell signaling pathways mediated by transforming growth factor (TGF)-β or bone morphogenetic protein (BMP). Thus, well-selected plant extracts and their active compounds can have beneficial effects on hair health. It is proposed that the discovery of phytochemicals targeting the aforementioned cellular events and cell signaling pathways will facilitate the development of new targeted therapies for alopecia.
Topics: Plant Extracts; Alopecia; Humans; Phytochemicals; Animals; Hair; Hair Follicle; Cell Proliferation
PubMed: 38792149
DOI: 10.3390/molecules29102288 -
Medicine May 2024Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum...
RATIONALE
Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.
PATIENT CONCERNS
Here, we report 2 cases of Korean children with CHH-AD.
DIAGNOSES
In the first case, the patient had metaphyseal dysplasia without hypotrichosis, diagnosed by whole exome sequencing (WES), and exhibited only skeletal dysplasia and lacked extraskeletal manifestations, such as hair hypoplasia and immunodeficiency. In the second case, the patient had skeletal dysplasia, hair hypoplasia, and immunodeficiency, which were identified by WES.
INTERVENTIONS
The second case is the first CHH reported in Korea. The patients in both cases received regular immune and lung function checkups.
OUTCOMES
Our cases suggest that children with extremely short stature from birth, with or without extraskeletal manifestations, should include CHH-AD as a differential diagnosis.
LESSONS SUBSECTIONS
Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.
Topics: Humans; Republic of Korea; Osteochondrodysplasias; Male; Female; Hair; Hirschsprung Disease; Mutation; Dwarfism; Primary Immunodeficiency Diseases; Hypotrichosis; Exome Sequencing; Infant; Child, Preschool; Endoribonucleases; Child; RNA, Long Noncoding
PubMed: 38787970
DOI: 10.1097/MD.0000000000037247 -
JPMA. the Journal of the Pakistan... May 2024TTo investigate the level of interleukin-6 in alopecia areata patients.
OBJECTIVE
TTo investigate the level of interleukin-6 in alopecia areata patients.
METHODS
The exploratory study was conducted from September to December 2021 at the Sindh Institute of Skin Disease, Karachi, and comprised alopecia areata patients regardless of age and gender in group A, while healthy controls matched for age and gender formed group B. Alopecia areata classification and severity were done using the Severity of Alopecia Tool. Serum interleukin-6 was measured using enzyme-linked immune sorbent assay. Data was analysed using R statistical software v4.2.1.
RESULTS
Of the 100 subjects, 50(50%) with mean age 15.52±10.14 years were cases in group A; 26(52%) females with mean age 16.78±10.77 years, and 24(48%) males with mean age 16.44±10.3 years. The remaining 50(50%) were controls in group B. Interleukin-6 concentration was significantly higher in group A (p<0.05). The concentration was not significantly different between the genders (p>0.05). The concentration was the highest in patients aged 11-20 years, followed by 21-30 years, 31-40 years and 1-10 years.
CONCLUSION
The concentration of circulatory pro-inflammatory interleukin-6 was significantly higher in alopecia areata patients than in the healthy controls.
Topics: Humans; Alopecia Areata; Interleukin-6; Male; Female; Adolescent; Adult; Young Adult; Child; Case-Control Studies; Child, Preschool; Severity of Illness Index; Pakistan; Infant
PubMed: 38783442
DOI: 10.47391/JPMA.10284 -
Supportive Care in Cancer : Official... May 2024This study aimed to validate the Chemotherapy-Induced Alopecia Distress Scale (CADS) in a diverse English-speaking population and patients with endocrine...
PURPOSE
This study aimed to validate the Chemotherapy-Induced Alopecia Distress Scale (CADS) in a diverse English-speaking population and patients with endocrine treatment-induced alopecia (EIA).
OBJECTIVE
Chemotherapy and endocrine therapy commonly cause alopecia in breast cancer patients, leading to significant psychological and social challenges. The CADS was developed to assess the psychosocial impact of alopecia, but its generalizability beyond Korean patients requires further investigation.
METHODS
Data from the CHANCE study (NCT02530177), which focused on non-metastatic breast cancer, was used. The cohort included 256 patients, and CADS data were collected at baseline, 6 months after chemotherapy completion, or 12 months after initiating endocrine therapy. The CADS questionnaire comprised 17 items covering physical and emotional health, daily activities, and relationships. Reliability was assessed using Cronbach's alpha, and responsiveness was measured by effect size.
RESULTS
The CADS exhibited good reliability, with Cronbach's alpha of 0.91 for the overall score, indicating acceptable internal consistency in both chemotherapy (0.89) and endocrine therapy (0.86) groups. Longitudinal responsiveness was supported by an effect size of 0.49 between decreasing satisfaction with hair growth and increasing emotional distress. Cross-sectional validity was confirmed, with effect sizes of 0.91 and 0.92 for satisfaction with hair growth and emotional and activity domains, respectively.
CONCLUSION
The CADS is a valid and responsive tool for assessing the psychosocial impact of chemotherapy-induced alopecia and endocrine treatment-induced alopecia in a diverse Western patient population.
Topics: Adult; Aged; Female; Humans; Middle Aged; Alopecia; Antineoplastic Agents; Breast Neoplasms; Psychometrics; Reproducibility of Results; Surveys and Questionnaires
PubMed: 38773008
DOI: 10.1007/s00520-024-08564-6 -
Amino Acids May 2024In the initial stages of Alopecia Areata (AA), the predominance of hair breakage or exclamation mark hairs serves as vital indicators of disease activity. These signs... (Review)
Review
In the initial stages of Alopecia Areata (AA), the predominance of hair breakage or exclamation mark hairs serves as vital indicators of disease activity. These signs are non-invasive and are commonly employed in dermatoscopic examinations. Despite their clinical salience, the underlying etiology precipitating this hair breakage remains largely uncharted territory. Our exhaustive review of the existing literature points to a pivotal role for cysteine-a key amino acid central to hair growth-in these mechanisms. This review will probe and deliberate upon the implications of aberrant cysteine metabolism in the pathogenesis of AA. It will examine the potential intersections of cysteine metabolism with autophagy, ferroptosis, immunity, and psychiatric manifestations associated with AA. Such exploration could illuminate new facets of the disease's pathophysiology, potentially paving the way for innovative therapeutic strategies.
Topics: Alopecia Areata; Humans; Cysteine; Homeostasis; Hair; Autophagy; Ferroptosis; Animals
PubMed: 38772922
DOI: 10.1007/s00726-024-03395-5 -
JCI Insight May 2024Hypotrichosis is a genetic disorder which characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several...
Hypotrichosis is a genetic disorder which characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated. Here, we discovered a dominant variant in ADAM17 gene caused hypotrichosis with woolly hair. Adam17 (p.D647N) knock-in mice model mimicked the hair abnormality in patients. ADAM17 (p.D647N) mutation led to hair follicle stem cells (HFSCs) exhaustion and caused abnormal hair follicles, ultimately resulting in alopecia. Mechanistic studies revealed that ADAM17 binds directly to E3 ubiquitin ligase TRIM47. ADAM17 (p.D647N) variant enhanced the association between ADAM17 and TRIM47, leading to an increase in ubiquitination and subsequent degradation of ADAM17 protein. Furthermore, reduced ADAM17 protein expression affected Notch signaling pathway, impairing the activation, proliferation, and differentiation of HFSCs during hair follicle regeneration. Overexpression of NICD rescued the reduced proliferation ability caused by Adam17 variant in primary fibroblast cells.
PubMed: 38771644
DOI: 10.1172/jci.insight.177588 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... May 2024To summarize the dynamic and synchronized changes between the hair cycle and dermal adipose tissue as well as the impact of dermal adipose tissue on hair growth, and to... (Review)
Review
OBJECTIVE
To summarize the dynamic and synchronized changes between the hair cycle and dermal adipose tissue as well as the impact of dermal adipose tissue on hair growth, and to provide a new research idea for the clinical treatment of hair loss.
METHODS
An extensive review of relevant literature both domestic and international was conducted, analyzing and summarizing the impact of dermal adipose precursor cells, mature dermal adipocytes, and the processes of adipogenesis in dermal adipose tissue on the transition of hair cycle phases.
RESULTS
Dermal adipose tissue is anatomically adjacent to hair follicles and closely related to the changes in the hair cycle. The proliferation and differentiation of dermal adipose precursor cells promote the transition of hair cycle from telogen to anagen, while mature adipocytes can accelerate the transition from anagen to catagen of the hair cycle by expressing signaling molecules, with adipogenesis in dermal adipose tissue and hair cycle transition signaling coexistence.
CONCLUSION
Dermal adipose tissue affects the transition of the hair cycle and regulates hair growth by secreting various signaling molecules. However, the quantity and depth of existing literature are far from sufficient to fully elucidate its prominent role in regulating the hair cycle, and the specific regulatory mechanisms needs to be further studied.
Topics: Animals; Humans; Adipocytes; Adipogenesis; Adipose Tissue; Alopecia; Cell Differentiation; Cell Proliferation; Dermis; Hair; Hair Follicle; Signal Transduction
PubMed: 38752252
DOI: 10.7507/1002-1892.202402092