Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 137
Filtrar
1.
Int J Cosmet Sci ; 43 Suppl 1: S9-S13, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34424547

RESUMO

Oxidative stress is an unbalanced condition in which the tissues of the body are not sufficiently able to counteract either exogenous or endogenous sources of reactive oxygen species. Oxidative stress is strongly associated with ageing, both local and systemic, as well as a wide range of local health conditions. This review focuses on the oxidative stress data known for skin, scalp and hair. This oxidative stress may be the 'currency' by which an unhealthy scalp leads to deleterious consequences to the hair. The ramifications of this scalp oxidative stress to normal hair elongation, retention and replacement are discussed.


Le stress oxydatif est une condition déséquilibrée dans laquelle les tissus du corps ne sont pas suffisamment capables de contrer la source exogène ou endogène d'espèces réactives de l'oxygène. Le stress oxydatif est fortement associé au vieillissement, à la fois local et systémique, ainsi qu'à un large éventail de problèmes de santé locaux. Cette revue se concentre sur les données de stress oxydatif connues pour la peau, le cuir chevelu et les cheveux. Ce stress oxydatif peut être la « devise ¼ par laquelle un cuir chevelu malsain entraîne des conséquences délétères pour les cheveux. Les ramifications de ce stress oxydatif du cuir chevelu sur l'allongement, la rétention et le remplacement normaux des cheveux sont discutées.


Assuntos
Envelhecimento/fisiologia , Cabelo/fisiopatologia , Estresse Oxidativo/fisiologia , Espécies Reativas de Oxigênio , Couro Cabeludo/fisiopatologia , Pele/fisiopatologia , Alopecia/fisiopatologia , Alopecia/prevenção & controle , Humanos
2.
Int J Cosmet Sci ; 43 Suppl 1: S1-S8, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33932025

RESUMO

We have conducted a thorough review of the literature to assess the evidence for supporting a cause-and-effect linkage between scalp condition and resultant hair condition. Over 20 epidemiological studies have been published covering a wide range of abnormal scalp conditions in which consequent impacts to the hair have been documented. A treatment study was conducted to demonstrate not only that impaired scalp condition led to impaired hair quality but that the impacts to hair are reversible upon normalization of the scalp condition. A proposed explanation involves the impact of scalp oxidative stress, which is part of the etiology of these scalp conditions as well as normal aging, in interfering with the normal keratinization of the pre-emergent hair cuticle. This perturbed cuticle impedes normal fiber anchorage and emerges more brittle and fragile than normal cuticle leading to accelerated physical degradation, mirroring the effects of chronological aging of the hair fiber. The consequences of the rapid cuticle degradation result in hair that is more vulnerable to mechanical insults and compromised overall quality.


Nous avons mené un examen approfondi de la littérature médicale pour évaluer les preuves étayant un lien de cause à effet entre l'état du cuir chevelu et celui des cheveux. Plus de 20 études épidémiologiques ont été publiées, couvrant un large éventail d'affections du cuir chevelu pour lesquelles des impacts conséquents sur les cheveux ont été documentés. Une étude de traitement a été menée pour démontrer non seulement qu'une altération du cuir chevelu entraînait une altération de la qualité des cheveux, mais aussi que les impacts sur les cheveux étaient réversibles après normalisation de l'état du cuir chevelu. Une explication proposée inclut l'impact du stress oxydatif sur le cuir chevelu, qui fait partie de l'étiologie de ces affections du cuir chevelu ainsi que du vieillissement normal, en interférant avec la kératinisation normale de la cuticule du cheveu à son point d'émergence. Cette cuticule perturbée gêne l'ancrage normal des fibres et fait émerger des cuticules plus fragiles et friables que la normale, entraînant une dégradation physique accélérée, reflet des effets du vieillissement chronologique des fibres capillaires. La dégradation rapide de la cuticule rend les cheveux plus vulnérables aux agressions mécaniques et compromet leur qualité globale.


Assuntos
Envelhecimento/fisiologia , Doenças do Cabelo/fisiopatologia , Cabelo/fisiopatologia , Estresse Oxidativo/fisiologia , Couro Cabeludo/fisiopatologia , Dermatopatias/fisiopatologia , Doenças do Cabelo/terapia , Humanos , Dermatopatias/terapia
3.
Sci Rep ; 11(1): 6210, 2021 03 18.
Artigo em Inglês | MEDLINE | ID: mdl-33737662

RESUMO

Our understanding of pilonidal sinus disease (PSD) is based on a paper published 29 years ago by Karydakis. Since then, surgeons have been taught that hair more easily penetrates wet skin, leading to the assumption that sweating promotes PSD. This postulate, however, has never been proven. Thus we used pilocarpine iontophoresis to assess sweating in the glabella sacralis. 100 patients treated for PSD and 100 controls were matched for sex, age and body mass index (BMI). Pilocarpine iontophoresis was performed for 5 min, followed by 15 min of sweat collection. PSD patients sweated less than their matched pairs (18.4 ± 1.6 µl vs. 24.2 ± 2.1 µl, p = 0.03). Men sweated more than women (22.2 ± 1.2 µl vs. 15.0 ± 1.0 µl in non-PSD patients (p < 0.0001) and 20.0 ± 1.9 µl vs. 11.9 ± 2.0 µl in PSD patients (p = 0.051)). And regular exercisers sweated more than non-exercisers (29.1 ± 2.9 µl vs. 18.5 ± 1.6 µl, p = 0.0006 for men and 20.7 ± 2.3 µl vs. 11.4 ± 1.4 µl, p = 0.0005 for women). PSD patients sweat less than matched controls. Thus sweating may have a protective effect in PSD rather than being a risk factor.


Assuntos
Cabelo/patologia , Seio Pilonidal/patologia , Região Sacrococcígea/patologia , Pele/patologia , Adolescente , Adulto , Índice de Massa Corporal , Estudos de Casos e Controles , Exercício Físico/fisiologia , Feminino , Cabelo/fisiopatologia , Humanos , Iontoforese/métodos , Masculino , Pessoa de Meia-Idade , Agonistas Muscarínicos/farmacologia , Pilocarpina/farmacologia , Seio Pilonidal/etiologia , Seio Pilonidal/fisiopatologia , Região Sacrococcígea/fisiopatologia , Fatores Sexuais , Pele/fisiopatologia , Sudorese/efeitos dos fármacos , Sudorese/fisiologia
5.
Exp Dermatol ; 30(2): 288-290, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33316115

RESUMO

The novel viral pandemic coronavirus disease 2019 (COVID-19) has sparked uncertainties as to its origin, epidemiology and natural course. The study of the cutaneous manifestations of COVID-19 has evolved with the hope that they may be useful as markers for the disease, prognostication and pathogenic insights into the disease. With regard to the hair, clinicopathological correlations have remained elusive. More recently, androgenetic alopecia and grey hair have been proposed as cutaneous markers for elevated severity risk. So far, we have only observed postinfectious effluvium in a causal association with COVID-19. The onset and acuity of hair shedding depended on the clinical severity of disease. There was complete recovery of hair.


Assuntos
Alopecia/virologia , COVID-19/complicações , Adulto , Idoso , COVID-19/fisiopatologia , Feminino , Cabelo/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade
6.
Scand J Immunol ; 92(4): e12913, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32506568

RESUMO

Cartilage-hair hypoplasia (CHH) is an autosomal recessive syndromic immunodeficiency with skeletal dysplasia, short stature, hypotrichosis, variable degree of immune dysfunction and increased incidence of anaemia, Hirschsprung disease and malignancy. CHH is caused by variants in the RMRP gene, encoding the untranslated RNA molecule of the mitochondrial RNA-processing endoribonuclease, which participates in for example cell cycle regulation and telomere maintenance. Recent studies have expanded our understanding of the complex pathogenesis of CHH. Immune dysfunction has a major impact on clinical course and prognosis. Clinical features of immune dysfunction are highly variable, progressive and include infections, lung disease, immune dysregulation and malignancy. Mortality is increased compared with the general population, due to infections, malignancy and pulmonary disease. Several risk factors for early mortality have been reported in the Finnish CHH cohort and can be used to guide management. Newborn screening for severe combined immunodeficiency can possibly be of prognostic value in CHH. Regular follow-up by a multidisciplinary team should be implemented to address immune dysfunction in all patients with CHH, also in asymptomatic cases. Haematopoietic stem cell transplantation can cure immune dysfunction, but its benefits in mildly symptomatic patients with CHH remain debatable. Further research is needed to understand the mechanisms behind the variability of clinical features, to search for potential molecular treatment targets, to examine and validate risk factors for early mortality outside the Finnish CHH cohort and to develop management guidelines. This review focuses on the pathogenesis, clinical course and management of CHH.


Assuntos
Cabelo/anormalidades , Doença de Hirschsprung/imunologia , Osteocondrodisplasias/congênito , Doenças da Imunodeficiência Primária/imunologia , Animais , Cabelo/imunologia , Cabelo/patologia , Cabelo/fisiopatologia , Doença de Hirschsprung/patologia , Doença de Hirschsprung/fisiopatologia , Humanos , Osteocondrodisplasias/imunologia , Osteocondrodisplasias/patologia , Osteocondrodisplasias/fisiopatologia , Doenças da Imunodeficiência Primária/patologia , Doenças da Imunodeficiência Primária/fisiopatologia
7.
ACS Nano ; 13(11): 12345-12356, 2019 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-31503449

RESUMO

Hair loss, a common and distressing symptom, has been plaguing humans. Various pharmacological and nonpharmacological treatments have been widely studied to achieve the desired effect for hair regeneration. As a nonpharmacological physical approach, physiologically appropriate alternating electric field plays a key role in the field of regenerative tissue engineering. Here, a universal motion-activated and wearable electric stimulation device that can effectively promote hair regeneration via random body motions was designed. Significantly facilitated hair regeneration results were obtained from Sprague-Dawley rats and nude mice. Higher hair follicle density and longer hair shaft length were observed on Sprague-Dawley rats when the device was employed compared to conventional pharmacological treatments. The device can also improve the secretion of vascular endothelial growth factor and keratinocyte growth factor and thereby alleviate hair keratin disorder, increase the number of hair follicles, and promote hair regeneration on genetically defective nude mice. This work provides an effective hair regeneration strategy in the context of a nonpharmacological self-powered wearable electronic device.


Assuntos
Estimulação Elétrica/instrumentação , Cabelo , Regeneração/efeitos da radiação , Dispositivos Eletrônicos Vestíveis , Alopecia/terapia , Animais , Modelos Animais de Doenças , Desenho de Equipamento , Cabelo/fisiopatologia , Cabelo/efeitos da radiação , Folículo Piloso/fisiopatologia , Folículo Piloso/efeitos da radiação , Camundongos , Camundongos Nus , Movimento/fisiologia , Ratos , Ratos Sprague-Dawley
8.
Med Hypotheses ; 127: 100-104, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31088630

RESUMO

Parkinson's disease (PD) is a neurodegenerative disorder, characterized by loss of dopaminergic neuromelanin containing neurons in the substantia nigra. Peripheral melanin, found in skin and hair, and neuromelanin appear to have some characteristics in common and share the same precursor for their synthesis; therefore, skin and hair features could be associated with PD. We hypothesize that earlier age at onset of hair greying, greater tendency to sunburn, difficulty tanning and dysregulation of sebum production are more common among PD patients due to genetically determined lower constitutive amounts of melanin and accumulation of α-synuclein in the skin, which leads to disrupted synthesis of peripheral melanin and dysregulated sebum secretion. In order to test this hypothesis 32 PD patients and 35 age and gender matched PD-unaffected individuals were included in a pilot study. The median of age at onset of hair greying was 30% lower in the PD group compared to the control group (35 and 50 years, respectively, p = 0.002). Age at onset of hair greying ≤ 41 years predicted the development of PD with 71.0% sensitivity and 70.6% specificity (area under curve = 0.725, 95% confidence interval = 0.601-0.850, p = 0.002). Significant differences were found when comparing skin types between PD patients and the control group (p < 0.001): dry (n = 14, 43.8%) and oily (n = 9, 28.1%) skin types were the most prevalent among individuals with PD, whereas the majority of control subjects reported having normal skin (n = 24, 68.6%). Differences in tanning ability were also found between the groups (p = 0.035): the majority of individuals in the control group (n = 24, 68.6%) and only 12 (37.5%) PD patients reported being able to tan easily. PD patients were also more likely to burn often in comparison to control subjects (n = 21, 65.6% vs n = 10, 28.6%, p = 0.001). Our results support the hypothesis that PD is associated with earlier age at onset of hair greying, greater tendency to sunburn, difficulty tanning and non-normal skin type; however these ideas should be evaluated in a large prospective study in order to draw final conclusions. If such work supports our hypothesis, skin and hair features could be included in a risk-score model to identify individuals at high risk of PD in order to diagnose patients prior to the manifestation of motor symptoms and initiate potential neuroprotective treatment when neuronal loss is minimal.


Assuntos
Cabelo/fisiopatologia , Doença de Parkinson/diagnóstico , Pele/fisiopatologia , Avaliação de Sintomas , Adulto , Idade de Início , Idoso , Neurônios Dopaminérgicos/metabolismo , Feminino , Cor de Cabelo , Humanos , Masculino , Melaninas/metabolismo , Pessoa de Meia-Idade , Monofenol Mono-Oxigenase/metabolismo , Sebo/metabolismo , Pele/metabolismo , Pigmentação da Pele , Substância Negra/metabolismo , Queimadura Solar , alfa-Sinucleína/metabolismo
9.
Indian J Dermatol Venereol Leprol ; 85(4): 374-379, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971534

RESUMO

BACKGROUND: Leukotrichia has been considered a predictor of poor outcome in vitiligo. However, studies considering the different clinical aspects of leukotrichia in vitiligo patients are few. AIM: Our aim was to conduct a detailed clinical study to provide insights into the relevance and associations of leukotrichia in non-segmental vitiligo. METHODS: In this cross-sectional study, vitiligo patients attending the dermatology outpatient clinic and phototherapy unit at Cairo University Hospital over a period of 6 months (April-September 2016) were included. Family history, clinical details, the Vitiligo Global Issues Consensus Conference classification, the Dermatology Life Quality Index, Vitiligo Area and Severity Index, Vitiligo Extent Score, Vitiligo Disease Activity Score and Vellus Score were determined and these measurements were correlated to leukotrichia. RESULTS: Out of the 101 patients studied, leukotrichia was found in 47 (46.5%) patients, with vellus hair involved in 37 (78.7%), terminal hairs in 30 (63.8%) and both in 20 (42.5%) patients. Vellus hair involvement was significantly higher in generalized bilaterally symmetrical vitiligo than in acrofacial or unclassified vitiligo. The incidence of scalp leukotrichia also was higher in generalized symmetrical vitiligo than in acrofacial vitiligo. The Vellus Score showed significant associations with Vitiligo Area and Severity Index, Vitiligo Extent Score and the Dermatology Life Quality Index. LIMITATIONS: This was a short-term study with a small sample size. Prognostic and therapeutic correlations were not studied; prospective longitudinal studies are needed for further evaluation. CONCLUSION: Leukotrichia was found in almost half of the studied sample and its frequency varied among the different types of vitiligo.


Assuntos
Cor de Cabelo , Doenças do Cabelo/fisiopatologia , Cabelo/fisiopatologia , Vitiligo/fisiopatologia , Adulto , Estudos Transversais , Extremidades , Face , Feminino , Doenças do Cabelo/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Couro Cabeludo , Índice de Gravidade de Doença , Inquéritos e Questionários , Vitiligo/complicações , Adulto Jovem
10.
Am J Med Genet A ; 179(2): 190-195, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30561899

RESUMO

Cartilage-hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia significantly affecting adult height and quality of life. Immunodeficiency and increased risk for malignancies contribute to significant morbidity. Little is known about gynecologic health in CHH. We performed a questionnaire study of 26 women (mean age 42.3 years) with genetically confirmed CHH, inquiring about pubertal development, menstrual cycle, use of contraception, pregnancies, gynecologic infections, and gynecologic cancers. Mean age at menarche and menopause was 12.7 and 46.1 years, respectively. Mean length of menstrual cycle was 27 days. Contraception was used by 76%, most commonly condom (60%), and combined contraception (60%). Despite significant short stature (mean height 121 cm) and potentially small pelvic diameters, 10 CHH women (38%) had been pregnant. Six of these women reported miscarriages and three had, induced pregnancy terminations. Eight women had in total, 19 deliveries. Abnormal Pap smear was reported in five patients and cervical cancer once. Our findings of normal timing of puberty and menopause suggest a fairly normal length of the fertility period in women with CHH. However, many patients expressed concerns regarding the safety of pregnancy and lack of prepregnancy counseling. Immunodeficiency may predispose CHH women to prolonged HPV infections. This study highlights the importance of careful gynecologic follow-up for these patients.


Assuntos
Exame Ginecológico , Cabelo/anormalidades , Doença de Hirschsprung/epidemiologia , Osteocondrodisplasias/congênito , Doenças da Imunodeficiência Primária/epidemiologia , Neoplasias do Colo do Útero/epidemiologia , Adolescente , Adulto , Estatura , Criança , Feminino , Genótipo , Cabelo/fisiopatologia , Doença de Hirschsprung/complicações , Doença de Hirschsprung/fisiopatologia , Humanos , Pessoa de Meia-Idade , Osteocondrodisplasias/complicações , Osteocondrodisplasias/epidemiologia , Osteocondrodisplasias/fisiopatologia , Teste de Papanicolaou , Gravidez , Doenças da Imunodeficiência Primária/complicações , Doenças da Imunodeficiência Primária/fisiopatologia , Qualidade de Vida , Maturidade Sexual , Inquéritos e Questionários , Neoplasias do Colo do Útero/complicações , Neoplasias do Colo do Útero/fisiopatologia , Adulto Jovem
12.
Georgian Med News ; (280-281): 64-68, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30204097

RESUMO

Objective - the purpose of the study is evaluation of the Hirsutism prevalence and ethnical peculiarities of the hair distribution in Georgian female adolescents of Tbilisi, Georgia. 2592 randomly selected female adolescents of Tbilisi were included in the study. They completed standard questionnaires consisted of questions about the existence of hirsutism and its locations. For clinical assessment 2 groups were selected from them: group 1 - 117 adolescents with hirsutism and 178 without it. For clinical evaluation of hirsutism modified Ferriman-Gallwey score was used. Based on the self-estimation the hirsutism prevalence was 26.62% (690 out of 2592), while clinically established prevalence of hirsutism was 20.61%. The most prevalent areas of hair distribution by self-estimation were the face and the abdomen. Clinical assessment of patients with hirsutism showed that mean value of Ferriman-Gallwey Score was 12.87±5.94. Hair distribution by clinical assessment was most significantly observed in the lower abdomen (78.33%), upper lip (76.67%) and chest (68.33%). This is the first study of hirsutism prevalence in ethnically Georgian adolescent female population. The study has shown that the value of prevalence by self-estimation exceeds analogous value established clinically, and the sites with hair excess are lower abdomen, upper lip and the chest.


Assuntos
Cabelo/fisiopatologia , Hirsutismo/epidemiologia , Adolescente , Etnicidade , Feminino , República da Geórgia/epidemiologia , Hirsutismo/etnologia , Humanos , Prevalência , Adulto Jovem
15.
Biochem Biophys Res Commun ; 501(4): 893-897, 2018 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-29763605

RESUMO

Previous studies have shown that androgenic alopecia is associated with metabolic syndrome and diabetes. However, the detailed mechanism whereby diabetes causes alopecia still remains unclear. We focused on the inflammatory response that is caused by diabetes or obesity, given that inflammation is a risk factor for hair loss. Inducible nitric oxide synthase (iNOS) is known to be upregulated under conditions of acute or chronic inflammation. To clarify the potential role of iNOS in diabetes-related alopecia, we generated obese diabetic iNOS-deficient (ob/ob; iNOS-KO mice). We observed that ob/ob; iNOS-KO mice were potentiated for the transition from telogen (rest phase) to anagen (growth phase) in the hair cycle compared with iNOS-proficient ob/ob mice. To determine the effect of nitric oxide (NO) on the hair cycle, we administered an iNOS inhibitor intraperitoneally (compound 1400 W, 10 mg/kg) or topically (10% aminoguanidine) in ob/ob mice. We observed that iNOS inhibitors promoted anagen transition in ob/ob mice. Next, we administered an NO donor (S-nitrosoglutathione, GSNO), to test whether NO has the telogen elongation effects. The NO donor was sufficient to induce telogen elongation in wild-type mice. Together, our data indicate that iNOS-derived NO plays a role in telogen elongation under the inflammatory conditions associated with diabetes in mice.


Assuntos
Diabetes Mellitus Experimental/enzimologia , Diabetes Mellitus Experimental/fisiopatologia , Cabelo/fisiopatologia , Óxido Nítrico Sintase Tipo II/metabolismo , Obesidade/fisiopatologia , Regeneração , Administração Tópica , Animais , Inibidores Enzimáticos/administração & dosagem , Inibidores Enzimáticos/farmacologia , Cabelo/efeitos dos fármacos , Cabelo/enzimologia , Cabelo/crescimento & desenvolvimento , Injeções Intraperitoneais , Masculino , Camundongos Endogâmicos C57BL , Camundongos Knockout , Camundongos Obesos , Óxido Nítrico Sintase Tipo II/antagonistas & inibidores , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Regeneração/efeitos dos fármacos , S-Nitrosoglutationa/metabolismo
16.
Rev Med Suisse ; 14(600): 662-669, 2018 Mar 28.
Artigo em Francês | MEDLINE | ID: mdl-29589652

RESUMO

Hair loss causes physical and psychological distress and represents a common motive of consultation both in general practice and dermatology. Causes of hair loss are highly diverse and can lead to a challenging diagnosis, which can delay its management. Knowledge of the main causes and their different mechanisms are thus necessary in order to optimize both the diagnosis and treatment. The purpose of this paper is to describe the main causes of hair loss in order to improve its diagnosis and management.


Du fait de l'impact physique et psychologique engendré, la perte de cheveux est un motif de consultation fréquent en médecine de premier recours et en dermatologie. Cependant, en raison de la diversité étiologique dont découle cette perte de cheveux, une connaissance des différents mécanismes et des différentes causes est nécessaire afin d'instaurer le traitement le plus approprié et le plus rapidement possible. Nous détaillerons dans cet article les principales étiologies afin de faciliter l'orientation et la prise en charge.


Assuntos
Alopecia , Cabelo , Alopecia/etiologia , Alopecia/terapia , Dermatologia , Medicina de Família e Comunidade , Cabelo/fisiopatologia , Humanos , Encaminhamento e Consulta
17.
Dis Colon Rectum ; 60(9): 979-986, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28796737

RESUMO

BACKGROUND: Pilonidal sinus disease is thought to be caused by intrusion of hair into healthy skin; loose hair in the intergluteal fold is thought to promote disease. However, compelling evidence to support these postulates is lacking; the cause of pilonidal sinus disease remains uncertain. OBJECTIVE: To determine whether particular properties of hair are associated with susceptibility to pilonidal sinus disease, we compared physical properties of hairs of patients with pilonidal sinus disease with hairs from control subjects who were matched for sex, BMI, and age. DESIGN: This was an experimental study with establishment of a mechanical strength test for single hairs to quantify the maximum vertical force that a hair could exert, following tests of strength of occipital, lumbar, and intergluteal hair. SETTINGS: Hair from patients with pilonidal sinus disease and matched control subjects were harvested from patients of the St. Marienhospital Vechta Department of Procto-Surgery. PATIENTS: A total of 17 adult patients with pilonidal sinus disease and 217 control subjects were included. MAIN OUTCOME MEASURES: ANOVA and intraclass and interclass variations of data gained from mechanical strength tests of occipital, lumbar, and intergluteal hair were included. RESULTS: Vertical hair strength was significantly greater in patients with pilonidal sinus disease. Occipital hair exhibited 20% greater, glabella sacralis 1.1 times greater, and intergluteal hair 2 times greater strength in patients with pilonidal sinus disease than in matched control subjects (all p = 0.0001). In addition, patients with pilonidal sinus disease presented with significantly more hair at the glabella sacralis and in the intergluteal fold. LIMITATIONS: The study was limited by its relatively small number of patients from a specific cohort of European patients. CONCLUSIONS: Occipital hair exhibited considerable vertical strength. Because occipital hair exerted the greatest force and cut hair fragments were found in the pilonidal nest in large quantities, these data suggest that pilonidal sinus disease is promoted by occipital hair. See Video Abstract at http://links.lww.com/DCR/A435.


Assuntos
Cabelo , Seio Pilonidal , Adulto , Feminino , Cabelo/patologia , Cabelo/fisiopatologia , Testes de Dureza/métodos , Cabeça , Humanos , Masculino , Seio Pilonidal/diagnóstico , Seio Pilonidal/etiologia , Seio Pilonidal/fisiopatologia , Reprodutibilidade dos Testes , Estatística como Assunto , Resistência à Tração/fisiologia
19.
Clin Genet ; 92(2): 204-207, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28094436

RESUMO

The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA). Through the Finnish Skeletal Dysplasia Register, we identified 3 additional patients with identical genotype. Two of them also showed unusually mild growth failure (height SDS -1.6 at 14 years and -3.0 at 12 years, respectively). Three of the 4 patients suffered from recurrent infections; 1 developed progressive bronchiectasis and another died from aggressive lymphoma. Our findings expand the phenotypic variability in CHH to include normal childhood height. The milder growth retardation related to this particular genotype was not associated with less severe extra-skeletal manifestations, emphasizing the need for careful follow-up also in CHH patients with mild-skeletal manifestations.


Assuntos
Predisposição Genética para Doença , Cabelo/anormalidades , Doença de Hirschsprung/genética , Doença de Hirschsprung/fisiopatologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Osteocondrodisplasias/congênito , RNA Longo não Codificante/genética , Adulto , Estatura/genética , Criança , Genótipo , Cabelo/diagnóstico por imagem , Cabelo/fisiopatologia , Doença de Hirschsprung/diagnóstico por imagem , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Osteocondrodisplasias/fisiopatologia , Doenças da Imunodeficiência Primária , Radiografia , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...