Database : MEDLINE
Search on : Hypotrichosis [Words]
References found : 927 [refine]
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[PMID]: 29462020
[Au] Autor:Kim N; Park JH
[Ad] Address:*Both authors are affiliated with Dana Plastic Surgery Clinic, Gangnamgu, Seoul, Korea.
[Ti] Title:Pubic Hair Restorative Surgery Using Grafts Harvested by the Nonshaven Follicular Unit Extraction Technique.
[So] Source:Dermatol Surg;, 2018 Feb 15.
[Is] ISSN:1524-4725
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Pubic atrichosis or hypotrichosis is quite common among Korean women. Although Korean people are increasingly opening up to Western culture, pubic hair transplantation is still pursued for cultural reasons. However, many hesitate to undergo restorative surgery because follicular unit strip surgery would leave a linear donor scar, preventing patients from hiding their surgical history. Thus, follicle harvesting using nonshaven follicular unit extraction (NS-FUE), aside from many other strengths, is very useful when performing pubic restorative surgery. There has been no previous report concerning the effectiveness of NS-FUE for treating pubic atrichosis or hypotrichosis. OBJECTIVE: To investigate the effectiveness of NS-FUE when performing pubic restorative surgery. MATERIALS AND METHODS: The 50 patients who were included in the study underwent pubic hair restoration using NS-FUE between March 2014 and June 2016 at Dana Plastic Surgery Clinic (Seoul, Korea), and were followed for at least 10 months afterward. Patients and the surgeon completed a survey about donor and recipient site surgical results using a 5-point Likert scale. RESULTS: The average satisfaction scores of patients and surgeon were 4.5 and 4.6, respectively. CONCLUSION: Nonshaven follicular unit extraction is one of the most effective harvesting methods when performing restorative surgery for patients with pubic atrichosis or hypotrichosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1097/DSS.0000000000001497

  2 / 927 MEDLINE  
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[PMID]: 29503529
[Au] Autor:Chanasumon N; Sriphojanart T; Suchonwanit P
[Ad] Address:Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
[Ti] Title:Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis.
[So] Source:Drug Des Devel Ther;12:365-372, 2018.
[Is] ISSN:1177-8881
[Cp] Country of publication:New Zealand
[La] Language:eng
[Ab] Abstract:Eyebrows serve as a key feature of the face and have many roles, including cosmetic appearance and social communication. Eyebrow hypotrichosis, which refers to reduction or absence of the eyebrow hair, could be a major problem that leads to negative functional, psychological, and social consequences. Bimatoprost is an ophthalmic prostamide analog that is approved by the United States Food and Drug Administration for the treatment of eyelash hypotrichosis. Its proposed mechanism is stimulation of the prostaglandin receptor in dermal papilla and melanocyte, thus leading to a prolonged anagen phase and increased melanogenesis. The hair follicle then increases in thickness, length, and darkness. The efficacy of bimatoprost for the treatment of eyebrow hypotrichosis has been supported by well-controlled studies. Bimatoprost, which is noninvasive, effective, and well tolerated, is worth considering as a treatment option for eyebrow hypotrichosis.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.2147/DDDT.S156467

  3 / 927 MEDLINE  
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[PMID]: 29469711
[Au] Autor:Baltazard T; Dhaille F; Chaby G; Lok C
[Ad] Address:Department of Dermatology, Hôpital Nord, University of Amiens, 80000 - Amiens, France. baltazard.thomas@chu-amiens.fr.
[Ti] Title:Value of dermoscopy for the diagnosis of monilethrix.
[So] Source:Dermatol Online J;23(7), 2017 Jul 15.
[Is] ISSN:1087-2108
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance. The diagnosis of monilethrix was made on the basis of these specific features. The diagnosis of monilethrix was more difficult to establish in our patient owing to the absence of any familial cases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:In-Process

  4 / 927 MEDLINE  
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[PMID]: 29464811
[Au] Autor:Mizukami Y; Hayashi R; Tsuruta D; Shimomura Y; Sugawara K
[Ad] Address:Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
[Ti] Title:Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.
[So] Source:J Dermatol;, 2018 Feb 20.
[Is] ISSN:1346-8138
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Autosomal recessive woolly hair is a relatively rare hereditary hair disorder characterized by sparse, short, curly hair. This condition is known to be caused by mutations in the LIPH gene, LPAR6 gene or KRT25 gene. In the Japanese population, most patients with autosomal recessive woolly hair carry one of two founder mutations in the LIPH gene, c.736T>A (p.Cys246Ser) or c.742C>A (p.His248Asn). However, occasionally, individuals with this condition carry compound heterozygous mutations, typically one founder mutation and another mutation. In this study, we describe a patient with a compound heterozygous mutation in the LIPH gene at c.736T>A and c.1095-3C>G. The latter mutation created a novel splice site. This was the fourth splice site mutation to be described in the LIPH gene. Furthermore, we performed an in vitro transcription assay in cultured cells, and demonstrated that the c.1095-3C>G mutation led to a frame-shift, which created a premature termination codon at the protein level (p.Glu366Ilefs*7). Finally, we summarized the mutations previously reported for the LIPH gene. Our findings provide further clues as to the molecular basis of autosomal recessive woolly hair.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:Publisher
[do] DOI:10.1111/1346-8138.14257

  5 / 927 MEDLINE  
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[PMID]: 29346610
[Au] Autor:Chang XD; Gu YJ; Dai S; Chen XR; Zhang CL; Zhao HS; Song QH
[Ad] Address:Department of Dermatology, Peking University Third Hospital, Beijing, China.
[Ti] Title:Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
[So] Source:Mutagenesis;32(6):599-606, 2017 Dec 31.
[Is] ISSN:1464-3804
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c.454G>A, c.614A>G, c.736T>A, c.742C>A. c.736T>A and c.742C>A mutations were reported in previous studies, and c.454G>A, c.614A>G were identified for the first time. We carried out functional studies of the two mutants with c.454G>A (p.Gly152Arg, G152R) or c.614A>G (p.His205Arg, H205R). Interestingly, both of them lead to secretion defects of LIPH, which are involved in the pathogenesis of ARWH/HT.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Data-Review
[do] DOI:10.1093/mutage/gex043

  6 / 927 MEDLINE  
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[PMID]: 29422543
[Au] Autor:Kim JK; Kim I; Choi K; Choi JH; Kim E; Lee HY; Park J; Kim Yoon S
[Ad] Address:Department of Medical Lifesciences, The Catholic University of Korea, Seoul, Korea.
[Ti] Title:Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA.
[So] Source:Exp Mol Med;50(2):e441, 2018 Feb 09.
[Is] ISSN:2092-6413
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:During the hair follicle (HF) cycle, HR protein expression is not concordant with the presence of the Hr mRNA transcript, suggesting an elaborate regulation of Hr gene expression. Here we present evidence that the 5' untranslated region (UTR) of the Hr gene has internal ribosome entry site (IRES) activity and this activity is regulated by the binding of poly (rC) binding protein 2 (PCBP2) to Hr mRNA. Overexpression and knockdown of PCBP2 resulted in a decrease in Hr 5' UTR IRES activity and an increase in HR protein expression without changing mRNA levels. We also found that this regulation was disrupted in a mutant Hr 5' UTR that has a mutation responsible for Marie Unna hereditary hypotrichosis (MUHH) in both mice and humans. These findings suggest that Hr mRNA expression is regulated at the post-transcriptional level via IRES-mediated translation control through interaction with PCPB2, but not in MUHH.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180211
[Lr] Last revision date:180211
[St] Status:In-Data-Review
[do] DOI:10.1038/emm.2017.262

  7 / 927 MEDLINE  
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[PMID]: 29186264
[Au] Autor:Sanches S; Rebellato PRO; Fabre AB; Campos GLM
[Ad] Address:Dermatology Outpatient Clinic, Hospital Universitário Evangélico de Curitiba, Faculdade Evangélica do Paraná (HUEC-FEPAR) - Curitiba (PR) Brazil.
[Ti] Title:Do you know this syndrome? Clouston syndrome.
[So] Source:An Bras Dermatol;92(3):417-418, 2017 May-Jun.
[Is] ISSN:1806-4841
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.
[Mh] MeSH terms primary: Ectodermal Dysplasia/diagnosis
Keratoderma, Palmoplantar/diagnosis
Nail Diseases/diagnosis
[Mh] MeSH terms secundary: Adolescent
Female
Humans
Syndrome
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1801
[Cu] Class update date: 180131
[Lr] Last revision date:180131
[Js] Journal subset:IM
[Da] Date of entry for processing:171130
[St] Status:MEDLINE

  8 / 927 MEDLINE  
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[PMID]: 29307792
[Au] Autor:Valenzuela I; Fernández-Alvarez P; Plaja A; Ariceta G; Sabaté-Rotés A; García-Arumí E; Vendrell T; Tizzano E
[Ad] Address:Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain. Electronic address: mvalenzuela@vhebron.net.
[Ti] Title:Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).
[So] Source:Eur J Med Genet;, 2018 Jan 04.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The transcription factor SOX18 has been shown to play a role in the development of hair, blood and lymphatic vessels. Mutations in SOX18 result in hereditary lymphedema, with the unique clinical association of hypotrichosis and telangiectasia (HLTS). Some patients present with additional disease features which may be explained by the location of SOX18 mutation. We report a patient with hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) confirmed by detection of a novel mutation in the SOX18 gene. Few cases of HTLS have been reported in the literature. We reviewed all cases reported to date to delineate the clinical manifestations that allow us to prompt diagnosis of this syndrome for appropriate management and genetic counseling.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[St] Status:Publisher

  9 / 927 MEDLINE  
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[PMID]: 29271000
[Au] Autor:Hsu TC; Lee JY; Hsu MM; Chao SC
[Ad] Address:Department of Dermatology, National Cheng Kung University College of Medicine and Hospital, Tainan, Taiwan.
[Ti] Title:Case report of Schöpf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A.
[So] Source:J Dermatol;, 2017 Dec 22.
[Is] ISSN:1346-8138
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by cysts of the eyelids, hypodontia, hypotrichosis, palmoplantar keratosis and onychodystrophy, and it is not common in Asia according to the published work. This autosomal recessive disorder was believed to result from mutations in the WNT10A gene. We report a 54-year-old Taiwanese man with SSPS resulted from a homozygous mutation (p.Arg104Cys) in WNT10A. This mutation has not been reported in odonto-onycho-dermal dysplasia but was demonstrated to link with dental abnormalities. This report implies the significance of WNT10A gene mutation in ectodermal dysplasia and highlights the clinical features of SSPS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171222
[Lr] Last revision date:171222
[St] Status:Publisher
[do] DOI:10.1111/1346-8138.14201

  10 / 927 MEDLINE  
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[PMID]: 29208051
[Au] Autor:Youssefian L; Touati A; Saeidian AH; Zargari O; Zeinali S; Vahidnezhad H; Uitto J
[Ad] Address:Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
[Ti] Title:A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
[So] Source:Orphanet J Rare Dis;12(1):176, 2017 Dec 06.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the development of this syndrome is incomplete. RESULTS: Using a targeted next-generation sequencing array of 38 ichthyosis-associated genes on a large cohort of 180 ichthyosis patients from a primarily consanguineous background, a previously unreported homozygous p.Asp482Asn mutation in ST14 was identified in a patient with IHS. This mutation affects an essential site within a ligand-binding domain of matriptase. Comparison with previous reports of IHS allowed further delineation of the phenotype of IHS in correlation with mutations present in these patients. Histological and ultrastructural analysis of skin and hair identified novel features in this disorder. CONCLUSIONS: This study correlates genotypic and phenotypic features of the rare disorder, IHS, expands the spectrum of pathology associated with the disorder, and provides clinical evidence of the importance of the Asp482 amino acid, previously shown to have an essential role in matriptase activation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Process
[do] DOI:10.1186/s13023-017-0728-8


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