Premature Graying Of Hair Research Articles

A Community Based Study to Estimate Prevalence and Determine Correlates of Premature Graying of Hair among Young Adults in Srinagar, Uttarakhand, India.

Background:There are several ways by which aging is identified, of which graying of hair is perhaps the most common way. Nowadays, graying of hairs, which was expected to occur after 40s, can be easily observed among younger age group, even before 20s. The present study aims to estimate the prevalence of graying of hairs and its correlates among young adults in Srinagar, Uttarakhand, India.Methodology:A community-based cross-sectional study was conducted among 384 young adults between 15 and 30-year age group in the urban area of Srinagar tehsil of Pauri district. Graying of hair was assessed on the basis of the number of white hairs on examination of scalp.Results:The prevalence of premature graying of hairs (PMGHs) was found to be 27.3%. Binary logistic regression analysis showed that a paternal history of PMGH, history of smoking, maternal history of PMGH, sunlight exposure, and body mass index were significant predictors of PMGH.Limitations:The factors found associated could be better determined through a follow-up study which could not be done in the current study. The present study was carried in a tehsil of one district of Uttarakhand therefore has limited external validity.Conclusion:The present study highlights the importance of maintaining a healthy lifestyle as well as adequate exposure to sunlight in preventing PMGH.

Risk Factors Associated with Premature Hair Greying of Young Adult.

BACKGROUND:Many researchers have been indicated that premature hair greying (PHG) may be associated with the multifactorial problem include genetic, trace elements deficiencies and some medical problems such as metabolic disorders. However, the risk factors for premature hair greying are not well known for young adult.AIM:This study aimed to determine the risk factors of hair greying in young adult.METHODS:We conducted a cross-sectional study recruited 100 respondents of a college student at the Universitas Sumatera Utara (USU) with the inclusion criteria: male, less than 25 years old with hair greying and not have skin pigmentation disorders. The questionnaires about greying of hair status, family history of greying and history of family disease were collected by self-report.RESULTS:The age of participants in this study was 20.09 ± 2.01 years (mean ± SD). The mean onset of PHG was 15.23 ± 3.52 years (range: 9 – 22 years). The family history of PHG was 39% with paternal in 262%; maternal in 10%% and both parents in 3%. There was a significant difference between several grey hairs with a family history of PHG P = 0.045. The family history with metabolic disorders; hypertension was 29%, obesity was 25%, and diabetes Mellitus (DM) was 15%. Limitations: Owing to the use of questionnaires, the possibility of recall bias exists. The young female was not evaluated in this study.CONCLUSION:The family history of PHG and onset of greying are important risk factors associated with PHG of a young adult.

Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes

Introduction: Short telomere syndromes (STS) are accelerated aging syndromes affecting hematopoietic, pulmonary, hepatobiliary and/or immunological systems. Clinical assessment of age-appropriate telomere length (TL) is performed using flow cytometry & fluorescence in-situ hybridization (flowFISH). Screening for germline variants in STS-related genes is guided by flowFISH-determined centile categories of TL, with screening recommended for TL <1st centile or 1-10th centile in lymphocytes (L) or granulocytes (G). However, the utility of genetic testing for patients with TL >10th centile and integration of clinical phenotype with flowFISH data in predictive algorithms is currently unclear. Methods: FlowFISH testing was done at reference laboratories in Vancouver (Repeat Diagnostics; Canada) & Johns Hopkins University (JHU, USA). Salient clinical features were pre-determined as, personal history of premature hair greying (onset at age < 30 years), idiopathic pulmonary fibrosis (IPF) or IPF/emphysema overlap (in smokers), cryptogenic cirrhosis or NRH, unexplained cytopenias &/or immunodeficiency, & family history of the above (in >1 1st or 2nd degree relatives). Clinical likelihood score (CLS) was assigned as low (1), intermediate (int, 2) or high (>2), based on the number of aforementioned clinical features present prior to flowFISH testing. Genetic testing was performed using either an in-house or commercial bone marrow failure-specific next generation sequencing (NGS) panel or whole exome sequencing (WES), and data for known variants affecting telomerase or telomeric function (TERT, TERC, DKC1, TINF2, NHP2, NOP10, TCAB1, NAF1, & RTEL1) was recorded. Results: One hundred forty-nine patients at our institution underwent TL assessment at Repeat diagnostics (n=38) and JHU (n=111) laboratories, respectively. Median age was 56 (range: 7-79) years; 88 (59%) being males. Significant family history was present in 40 (27%) patients, while premature greying of hair was present in 13 (9%) patients. Organ-specific clinical features included unexplained cytopenias (n=89, 60%) IPF (n=71, 48%), cryptogenic cirrhosis or NRH (n=21, 14%), & unexplained immunodeficiency (n=14, 9%). CLS stratification included low (n=74, 50%), int (n=54, 36%), & high (n=21, 14%), with higher CLS significantly correlating with lower delta TL for L (p=0.0005) but not G (p=0.3). Genetic testing was performed in 51 (35%) patients (NGS-51, WES-1) among which 13 (26%) patients had a telomere-associated variant; 5 (10%) pathogenic (pv, all TERT). CLS alone was unable to predict likelihood of finding a telomere-associated variant (p=0.4). Based on age-appropriate centile categorization of L & G TL (information for both available in 134 patients), patients were stratified into six groups (table 1). TL <1st centile in L: This group was further divided into two groups; TL<1st centile in both L & G [A1, n=7, CLS low-3 (43%), int-2 (29%), & high-2 (29%)] and TL <1st centile in L and 1-50th centile in G (A2, n=2, CLS low & high) patients. Among the 4 (57%) patients who underwent genetic (NGS-3, WES-1) testing, 3 (75%) had TERTpv in A1 subgroup and 1 A2 subgroup patient had a VUS in TERT.TL <1st centile in G, 1-10th centile in L (n=18): This group included 9 (50%) low, 8 (44%) int and 1 (6) high CLS patients, of which only 1 of 8 NGS-tested patients had TERTpv.TL 1-10th centile in L or G: This group was divided into; 1-10th centile in both L & G [C1, n=28, CLS low-3 (11%), int-14 (50%), high-11(39%)] of whom 8 (22%) underwent NGS with no pathogenic variants but 3 VUS in RTEL1, NAF1 & PARN genes, and 1-10th centile in L, >1-90th centile in G [C2, n=36, CLS low-19 (53%), 16 (44%), 1 (3%)] of whom 8 (22%) underwent NGS with 1 TERTpv and 2 VUS in TINF2TL >10th centile in L & 1-90th centile in G (n=43, 32%): CLS stratification in this group included 27 (63%) low, 12 (28%) int, 4 (9%) high. NGS testing was done in 13 (30%) patients [CLS low-9(69%), int 2(15%), high 2 (15%)], of whom only 2 (15%) had VUS in TINF2 and TERT gene, but no pathogenic variants (figure 1). Conclusion: Our study demonstrates the importance of using a flowFISH assay based predictive algorithm to screen patients with suspected STS for telomere-related genetic alternations, in comparison to a clinical likelihood score. We also demonstrate a limited role for genetic testing in patients with lymphocyte TL >10th centile, regardless of the clinical likelihood score. Disclosures Patnaik: Stem Line Pharmaceuticals.: Membership on an entity's Board of Directors or advisory committees.

Waardenburg Syndrome: A Case Report

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair.
 Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

Serum levels of lead and selenium in patients with premature graying of the hair.

The exact etiology of premature hair graying (PHG) remains unknown; however, oxidative stress is shown to be involved. Selenium, as an antioxidant, is widely known for its antiaging potentials. Moreover, PGH is more prevalent among addicts and because Lead is a common impurity found in illegal drug. We evaluated the serum levels of lead and selenium in patients with PHG and compared it with a control group. In this cross-sectional study, 60 patients referred to Dermatology Clinic of Imam-Reza Hospital of Mashhad, Iran in 2015 were evaluated in two groups with and without PHG. Demographic information and disease characteristics, skin phenotype, and family history of PHG were recorded. Furthermore, 5mL of brachial blood was drawn for measuring selenium and lead levels. The mean patients' age was 28.1±4.8years. Age, sex, occupation, and skin phenotype in individuals with and without PHG were not significantly different (P>.05) but family history of PHG was significantly higher in the patients with PHG (P=.001). Similarly, the number of white hairs was significantly higher (P<.001), and the age of onset of hair graying was significantly lower in patients with PHG (P<.001). Serum levels of selenium and lead were not significantly different between two groups (P<.05). However, the serum levels of lead in the patients with PHG were slightly higher. The results of this study showed that there was no significant difference in lead and selenium serum levels in patients with and without PHG.

Is there any Correlation between Breathing Rate and Premature Greying of Hair?

Is there any Correlation between Breathing Rate and Premature Greying of Hair?

Impact of Premature Greying of Hair on Socio-cultural Adjustment and Self-esteem among Medical Undergraduates in Foundation University, Islamabad.

IntroductionGreying of hair is an inevitable phenomenon that occurs commonly as a person ages. It usually occurs in the fourth decade regardless of gender but now a days, even people in their early twenties can experience premature greying. The objective of our study was to determine the frequency of premature greying of hair and its impact on the socio-cultural spheres of life and self-esteem of medical students.MethodologyIt is a descriptive cross-sectional study conducted at Foundation University Medical College (FUMC) from January to February 2017. All medical students of FUMC who gave their consent were included in the study sample. Students who were absent or unwilling to participate were excluded. Data was collected through a self-administered questionnaire, which was then analysed using SPSS version 17 (SPSS Inc., Chicago, IL).ResultsOut of 673 students, 210 (31.2%) suffered from premature greying of hair. The prevalence was higher among females (155/73.8%) as compared to males (55/26.2%). There was a statistical difference in perception of both the genders, regarding those with premature greying of hair trying to hide it (p-value = 0.000), premature greying of hair as contagious (p-value = .009) and the affected looking older than their actual age (p-value = 0.036).ConclusionThe study showed that premature greying affected the socio-cultural spheres of students’ lives. Females were more prone to developing premature greying of hair. Genetics also play a significant role in the phenomenon. No positive correlation was found by using Rosenberg Self-esteem scale.

Serum ferritin and vitamin D levels in premature hair graying of college student at the Universitas Sumatera Utara area

Premature hair graying (PHG) is defined as a person has five gray hairs and < 25 years old in Asia. Although genetic factors associated with PHG, environmental factors and micronutrient deficiencies are risk factors of PHG. This study was designed to evaluate serum ferritin and vitamin D levels in PHG of young adult at the Universitas Sumatera Utara (USU) area. We conducted a cross-sectional study recruited 100 respondents with the inclusion criteria: male sex, < 25 years old, have PHG and does not have skin pigmentation disorders. The data were collected by questionnaires including age, location of graying, and number of gray hairs. The blood samples were collected to assess serum ferritin and vitamin D levels by Elisa methods. The mean age was 20.09 ± 2.01 years (mean ± SD). Distribution pattern of gray reported diffuse or undefined (35%), followed by the parietal regions (31%), frontal, occipital and temporal was 6%, 5% and 2% respectively. The majority of cases decreased of vitamin D level was 77% and normal status was 23% of cases, whereas serum ferritin level showed 91% was normal status, 6% was low and 3% was high of cases. There was not significant difference between number of graying with serum ferritin and vitamin D levels were p=0.633 and p=0.191 respectively. Limitation of the study female sex not evaluated. The vitamin D deficiency associated with PHG was found of college student at USU area.

Global downregulation of pigmentation-associated genes in human premature hair graying.

Premature hair graying, or canities, is a complex multi-factorial process with negative effects on affected individuals. The aim of the present study was to investigate the possible underlying mechanisms of premature hair graying at the genetic level. A total of 5 unrelated Han Chinese individuals presenting with premature hair graying (25–40 years old, with >1% hair affected) were enrolled in the present study. RNA sequencing was performed to identify gene expression changes between the follicular cells of grey and black hair from the cohort. A total of 127 differentially expressed genes (DEGs) were identified. These DEGs were overrepresented in categories associated with the pigmentation pathway, with a decreased expression of key genes responsible for melanin synthesis. Of note, the decreased expression of certain transcription factors and the increased expression of certain precursor microRNAs observed may explain for the downregulation of certain other DEGs, which were identified as their targets via Starbase v2 and Integrated Motif Activity Response Analysis. The DEGs were also enriched in terms associated with the nervous system, indicating that neural disturbances may also have certain roles in premature hair graying. Of note, five of the downregulated DEGs were associated with aging according to the JenAge Aging Factor Database. To the best of our knowledge, the present study was the first genome-wide survey of the gene expression profile associated with premature hair graying. Dysfunction of the melanin biosynthesis pathway is probably the direct cause of hair graying and the present results provide valuable clues for further functional and mechanistic investigation.

Therapeutics of premature hair graying: A long journey ahead.

Premature graying of hair has major psychosocial and socioeconomic repercussion, as it is considered as a sign of hastily progressing old age, ill health and often leads to loss of self-esteem. Hair is said to gray prematurely when it happens before the age of 20years in Caucasians, 25years in Asians, and 30years in Africans. The hair color chiefly depends on melanin pigment, and fabrication of this pigment takes place in melanosomes through the process of melanogenesis. This complex biochemical pathway (melanogenesis) is further dependent on tyrosinase which acts as fuel.The normal human scalp is subjected to various factors categorized as intrinsic and extrinsic leading to graying of hair. Intrinsic factors comprise of variants responsible for changes at genetic level while extrinsic factors include air pollution, ultraviolet radiation, smoking, and nutrition. It has been proposed that direct or indirect effect of all these factors results in the generation of reactive oxygen species (ROS), thus leading to further damage. Though research has expanded in last few years in terms of microscopic, biochemical (hormonal, enzymatic), and molecular changes happening within hair follicle/shaft, still the exact mechanism leading to premature graying of hair is not well understood. Probable solutions toward this quandary are diet, herbal remedies, and temporary hair colorants. Ironically, the latter one being the most common has various side effects such as allergic reactions, inflammation, and hair loss. The aim of this paper was to review the manifestation and probable future interventions in preventing premature hair graying.

872 Evaluation of physiological, psychological, and lifestyle factors associated with premature hair graying

Hair graying is believed to be driven by the cytotoxic effect of reactive oxygen species on follicular melanocytes, thus raising the concern that premature hair graying (PHG) may be an outward sign of systemic oxidative stress. We performed a cross-sectional, case-control study to examine factors associated with PHG. Data from 467 participants (F= 354, M= 113; ages 18 to 77) was collected, including demographics, medical history, family history, substance use, diet, exercise, and supplement use and analyzed by SPSS-25 software. PHG (graying at age ≤30) was found to be significantly associated with history of PHG in the mother, p<0.001, odds ratio [OR]=3.165; father, p<0.001, OR=5.166; maternal grandparent, p=0.002, OR=2.442; paternal grandparent, p=0.007, OR=2.369; and siblings, p<0.001, OR=3.125. PHG was significantly associated with iron deficiency (p=0.026, OR=1.751) and family history of depression (p=0.012, OR=1.603), while HSV infection (p=0.004, OR=0.367) and smoking history (p=0.003) demonstrated significant negative association. In Caucasian participants (n=306), in addition to these trends, irritable bowel syndrome was also significantly associated with PHG (p=0.010, OR=2.753). In Asian participants (n=75), only history of heart disease in a 1st degree relative (p=0.038) and family history of PHG in the father (p=0.001, OR=6.084) and siblings (p=0.015, OR=6.167) were significantly associated. Biotin supplementation was significantly associated with PHG in men (p=0.049), while fish oil/omega-3 fatty acids demonstrated a significant negative association with PHG in women (p=0.046, OR=0.489). In participants age ≤30, in addition to family history of PHG, history of influenza infection (p=0.023, OR=1.909) was significantly associated with PHG and intake of fish oil/omega-3 fatty acids was negatively associated (p=0.008, OR=0.201). Important associations exist between PHG and family history of PHG, psychiatric history, supplement use, and vitamin deficiencies, providing insight into the pathogenesis and potential comorbidities of PHG.

Evaluation of Physiological, Psychological, and Lifestyle Factors Associated with Premature Hair Graying.

Background:Canities, or hair graying, is believed to be driven by the cytotoxic effect of reactive oxygen species on follicular melanocytes, thus raising the concern that premature hair graying (PHG) may represent an outward sign of systemic oxidative stress.Objective:This study aimed to identify the physiological, psychological, and lifestyle factors associated with PHG (defined as graying at age ≤30 years) in men and women.Materials and Methods:Data from 467 participants (female = 354 and male = 113; age: 18–77 years) were collected and analyzed, including demographic information, medical history, family history, supplement intake, and lifestyle factors.Results:PHG was found to be significantly associated with a history of PHG in the mother, P<0.001, odds ratio (OR) = 3.165; father, P<0.001, OR = 5.166; maternal grandparent, P= 0.002, OR = 2.442; paternal grandparent, P= 0.007, OR = 2.369; and siblings, P<0.001, OR = 3.125. PHG was significantly associated with iron deficiency (P = 0.026, OR = 1.751) and family history of depression (P = 0.012, OR = 1.603), while herpes simplex virus infection (P = 0.004, OR = 0.367) and smoking history (P = 0.003) demonstrated significant negative associations. In Caucasians only (n = 306), in addition to these trends, irritable bowel syndrome was also significantly associated with PHG (P = 0.010, OR = 2.753). In Asians only (n = 75), history of heart disease in a first-degree relative (P = 0.038) was significantly associated with PHG.Limitations:As a survey study, the findings may be subject to recall bias.Conclusions:Important associations exist between PHG and family history of PHG, psychiatric history, supplement use, and vitamin deficiencies, providing insight into the pathophysiology and potential comorbidities of PHG.

Premature greying of hair among the population of King Faisal University in Al-Ahasa, Saudi Arabia: an epidemiological study

Background: Hair and skin play an important role in the physical appearance. Canities is a scientific term used to describe hair greying. It is considered a physiological phenomenon with getting older, despite any factors like gender and race. In case where it appears at a young age, the term used is premature canities or premature greying of hair. This study aimed to assess the epidemiology of premature greying of hair. Methodology: This study analyzed an observational descriptive cross-sectional data collected in September 2018. Our sample included males and females from 18-30 years of age from King Faisal University, Saudi Arabia. The sample size was 447 with a confidence level of a 95% and a margin of error of 5%. Results: The study sample consisted of 346 (77.4%) females and 101 (22.6%) males. Regarding PMGH 257 (57.5%) people did not complain of PMGH and 190 (42.5%) people suffered from PMGH. Regarding gender, 160 (84.2%) females and 30 (15.8%) males had PMGH. The prevalence of PMGH in the present study was 42.5%. Conclusion: This study revealed that PMGH is a common trichological disorder. Most frequent associations to PMGH included thyroid, deficiency of vitamins, alopecia areata, vitiligo, smoking, sun exposure and personal habits like using hair straightener and application of hair gel. Family history of PMGH appears to play an important role in the predisposition of this disorder.

Relationship between diet, atopy, family history, and premature hair graying.

Premature hair graying (PHG) is commonly observed in society, but there are a few studies evaluating risk factors associated with PHG. We aimed to evaluate the socio-clinical risk factors associated with PHG in this study. A total of 1192 volunteers between 18 and 20years old were included in this cross-sectional study. Volunteers were asked to fill in a questionnaire on socio-clinical risk factors associated with PHG such as smoking, alcohol consumption, diet preference, atopy history, and family history of PHG and Perceived Stress Scale (PSS). Three hundred and seventy-seven (31.6%) of the 1192 volunteers had PHG. Vegetarian diet preference, atopy history, and family history of PHG were significantly higher in subjects with PHG. Mean body mass index (BMI) and PSS scores were higher in subjects with PHG, but was not statistically significant. In the ordinal logistic regression analysis according to severity of PHG, male gender, BMI, alcohol consumption, and history of paternal PHG were significantly higher and onset age of PHG was significantly lower in PHG group. Our study is the first study reporting a relationship between PHG and diet. It may be possible to prevent PHG or reduce its severity with some lifestyle changes such as diet preference, having normal weight, and decreasing alcohol consumption.

Hepatotoxicity and hepatoprotection of Polygonum multiflorum Thund. as two sides of the same biological coin

Ethnopharmacological relevancePolygonum multiflorum Thund., a well-known and commonly-used TCM (Traditional Chinese Medicine) for treating hypertension, hyperlipidemia, premature graying of hair, and etc., has aroused wide concern for its reported potential liver toxicity. Due to its various active ingredients, the mechanisms underlying the hepatotoxicity of raw Polygonum multiflorum Thund (RPM) remain largely unknown. Aim of the study1H NMR metabolomics was used to study the mechanism of RPM induced hepatotoxicity and disclosed the existence of hepatotoxicity and hepatoprotection conversion during RPM administration in mice. Materials and MethodsThree dosages of RPM were administered by gavage to mice for consecutive 28 days. The serum and liver samples were collected and then subjected for histopathology observation, biochemical measurement and 1H NMR metabolic profiling. ResultsRPM caused oxidative stress and mitochondria dysfunction in mice, resulting in significant disturbance in energy metabolism, amino acid metabolism and pyrimidine metabolism and also inducing inflammatory responses. RPM induced hepatotoxicity in an apparent non-linear manner: the most severe in low dosage group, and to a less extent in medium group according to metabolomics analysis. The attenuation of liver injury in mice livers might result from the therapeutic effects, such as anti-oxidative capacity of RPM components. ConclusionRPM exerted a complicated non-linear manner in healthy recipients, switching between hepatoxicity and hepatoprotection dependent on the dosage and status of the body.

Clinical implications of telomere dysfunction in lung fibrosis.

Telomere attrition has been proposed as one of the aging hallmarks in pulmonary fibrosis. Telomere shortening and telomerase gene mutations have been widely evaluated in recent years. Reduced telomere length may be identified in a quarter of patients with sporadic idiopathic pulmonary fibrosis (IPF) and half of those cases with family aggregation. However, telomere studies have not transferred from the research field to the clinic. This review is focused on our current understanding of the pathogenic implication of telomere dysfunction in lung fibrosis and its relevance in the clinical setting. The most prevalent clinical expression of telomere dysfunction is IPF. Disease onset is usually seen at a younger age and family aggregation is frequently present. Short telomere syndrome is associated in a minority of cases and includes premature hair greying, bone marrow failure and liver cirrhosis. However, patients often present with some extrapulmonary associated telomeric features and related comorbidities that may help to suspect telomere defects. Telomere shortening confers a poor prognosis and reduced lung-transplant free survival time in IPF and other nonidiopathic pulmonary fibrotic entities. Telomere dysfunction associates some common clinical features that could modify patient management in pulmonary fibrosis.

Association between premature canities and quality of life at Medan, Indonesia 2017

Introduction Premature canities is a terminology to describe a premature condition graying of hair before the age of 20 in Caucasians, 25 in Asians, and 30 in Africans, involving complex processes such as genetic, hormonal and environmental factors. Quality of life is generally measured using a validated questionnaire. Body Image Questionnaires (BIQ) is a questionnaire that specifically assesses the impact of self-appearance, especially in the hair appearance, on the individual self-esteem and the influences in life. In clinical practice, measuring the association of premature canities to the quality of life and understanding how a patient's life is affected by premature canities can be helpful in determining the most appropriate and better management for the patients.Aim: To evaluate the association between premature canities and quality of lifeMethods: This is a cross-sectional analytic method, with BIQ to assess the quality of life. Diagnosis of premature canities was made based on clinical examination. This study involving 63 subjects with premature canities and 114 normal subjects. Statistical analysis was done using descriptive method and chi-square test to assess the association between premature canities and quality of life.Results: There is a significant association between premature canities and quality of life (P&lt;0.05). There is no significant association between age, sex, and severity degree of premature canities with quality of life (P&gt;0.05).Conclusion: There is a significant association between premature canities and quality of life, but there is no association between age, sex and severity degree of premature canities with quality of life.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

BackgroundDyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. As the disease advances, patients may develop progressive bone marrow failure, pulmonary fibrosis, oesophageal stenosis, urethral stenosis, liver cirrhosis as well as haematological and solid malignancies. Several genes have been implicated in the pathogenesis of dyskeratosis congenita, with the dyskerin pseudouridine synthase 1 (DKC1) gene mutations being the X-linked recessive gene.Case presentationHerein, we report a 31-year-old male with history of recurrent febrile episodes who was found to have reticulate skin pigmentation interspersed with hypopigmented macules involving the face, neck and extremities, hyperkeratosis of palms and soles, nail dystrophy, leukoplakia of the tongue, premature graying of hair, watery eyes and dental caries. Several of his male relatives, including two maternal uncles and three maternal cousins were affected with a similar type of disease condition. Pedigree analysis suggested a possible X-linked pattern of inheritance. Genetic testing in the proband showed a novel hemizygous, non-synonymous likely pathogenic variant [NM_001363.4: c.1054A > G: p.Thr352Ala] in the PUA domain of the DKC1 gene. Quantitative polymerase chain reaction for relative telomere length measurements performed in the proband showed that he had very short telomeres [0.38, compared to a control median of 0.71 (range 0.44–1.19)], which is consistent with the DC diagnosis. Co-segregation analysis of the novel mutation and telomere length measurements in the extended family members could not be performed as they were unwilling to provide consent for testing.ConclusionsThe novel variant detected in the DKC1 gene adds further to the existing scientific literature on the genotype-phenotype correlation of DC, and has important implications for the clinical and molecular characterization of the disease.

The roots of gray hair

Hair Color![Figure][1] Premature graying of hair is related to immune function. PHOTO: ISTOCK.COM/NINAMALYNA Gray hair is an inevitable part of aging. Melanocytes are the culprit cells that slow production of the color pigments called melanin, but how and why this occurs with age largely remains a mystery. Harris et al. make a link between the immune system and premature graying. They find that the protein MITF (microphthalmia-associated transcription factor), which controls melanocyte stem cell function, also works to trigger melanocyte immune responses. Interferons normally kickstart the immune response to viral and bacterial infection, but when MITF cannot regulate interferon, hair turns gray in mouse models. These findings may shed light on why chronic illness or certain autoimmune disorders can accelerate the graying process. PLOS Biol. 10.1371/journal.pbio.2003648 (2018). [1]: pending:yes

Review of Ayurvedic herbs with Kesharanjana Property in the Management of Caniites (Palitya)

Greying of hair according to age is common phenomenon. But in modern era due to different kind of stress and changing life style Canities (Palitya) occur in early age. According to W.H.O in India, its incidence is high in the age group of 20-30 years. In Ayurveda premature greying of hair is called as Akala palitya (premature gray hair). According to Ayurveda grey hair is mainly due to the vitiation of Pitta dosha (biological entity related to exothermic reactions or transformation) &amp; reference of Palitya is directly mentioned only in Pitta Prakruti (inherent constitution of an individual). The use of purification procedures of panchakarma (detoxifying therapy) has prime importance in the remedies mentioned for premature greying. Nasya karma (nasal medication) is one of the major rejuvenative treatments. Palliative external &amp; internal medicaments measures like Shiro dhara (pouring oil on head), Shoro pichu (cloth dipped in oil kept on head), Shiro basti (oil is kept on head with an apparatus), Shiro lepa (application of medicated paste over head), Shiro abhyanga (oil massage to head) helps in speedy recovery. The chemical components in the herbs responsible for hair dyeing are discussed