The Experts below are selected from a list of 291 Experts worldwide ranked by ideXlab platform
Lucia Pérez-varela - One of the best experts on this subject based on the ideXlab platform.
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Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?
European journal of dermatology : EJD, 2011Co-Authors: Romina Rodríguez-lojo, Jesús Del Pozo, Felipe Sacristán, J.m. Barja, Francisca Piñeyro-molina, Lucia Pérez-varelaAbstract:The association of familial totalis Leukonychia with multiple pilar cysts is a rare condition that could represent a separate syndromic entity. Since Bauer described a family with totalis Leukonychia and sebaceous cysts in 1920, only four new affected families have been reported. We report a five-generation family with a total Leukonychia and multiple pilar cysts on the scalp. The hypothesis of a deficiency of a gene regulating the structure of keratin has been postulated but the exact genetic mechanism has not been yet determined. In our family, no other keratinizing structures were involved.
Hideki Mukai - One of the best experts on this subject based on the ideXlab platform.
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A syndrome of Leukonychia, koilonychia and multiple pilar cysts.
Acta dermato-venereologica, 2015Co-Authors: Mayuko Mutoh, Shiro Niiyama, Saori Nishikawa, Toshiaki Oharaseki, Hideki MukaiAbstract:© 2015 The Authors. doi: 10.2340/00015555-1893 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 Familial leuconychia with pilar cysts is a rare autosomal dominant condition, previously reported in 6 families. The molecular basis of the disorder is unknown. We report a family of 5 generations with leuconychia, koilonychia and multiple pilar cysts segregating as an autosomal dominant trait.
H. Wickett - One of the best experts on this subject based on the ideXlab platform.
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Leukonychia on finger nails as a marker of calcium and or zinc deficiency
Journal of Human Nutrition and Dietetics, 2011Co-Authors: Z. Morgan, H. WickettAbstract:Background: Popular lay media claim that the aetiology of Leukonychia (white spots) on finger nails is due to calcium and/or zinc (McKeith, 2008; Holford, 1998) deficiency. No studies are available in scientific literature to support or refute these claims. Cited causes in dermatology journals include, trophic disturbances, gender, hand dominance, nail trauma and orange stick usage (Mitchell, 1953) although this is dated. This small scale study aimed to establish if there is a correlation between calcium and/or zinc intakes and the presence or absence of Leukonychia on finger nails. Methods: A cross sectional survey was completed by 82 university undergraduate students. The study was approved by the University ethics panel. A convenience sample was taken from students enrolled on courses within the School of Health Science. A self administered questionnaire collected data on the number of Leukonychia present on participant's finger nails, participant's opinions on Leukonychia's aetiology, calcium and zinc intakes, age, gender, handedness, supplement usage, activities and orange stick usage. A food frequency questionnaire, adapted from the tool used in the European Prospective Investigation into Cancer (EPIC) (Day et al., 2001), was developed to allot participants calcium and zinc intake scores. Data was coded and analysed using the Statistical Package for Social Sciences (SPSS) version 17. Spearmans Correlation was used to assess the relationship between calcium and zinc intake scores and the number of Leukonychia present. Results: The majority of participants thought that Leukonychia was a result of a singular or multiple nutrient deficiency (51%), mainly either calcium or zinc. Leukonychia was present in 46% of the sample. It was not significantly associated with calcium intake (P = 0.681), zinc intake (P = 0.604), age (P = 0.715), gender (P = 0.089), hand dominance (P = 0.151), multivitamin/mineral usage (n = 62, P = 0.655) or orange stick usage (n = 12, P = 0.961). The majority (63%) of participants reported to take part in activities that knock their hands frequently. A correlation was found between activities that knock participants hands frequently and the number of Leukonychia present on finger nails (P = 0.000, t = −4.902, df = 77). Discussion: The results showed there was no correlation between calcium or zinc intake scores and Leukonychia. Participant's intakes scores followed similar patterns to the actual intakes observed in a survey of the UK general population (Henderson et al., 2003). For both nutrients male intake score where higher than females and intake scores for calcium increased with age. However a limitation of this study is that nutrient intake was estimated using a non-validated tool which provided an arbitrary intake score that could not be quantitatively compared to the National Diet and Nutrition Surveys (Henderson et al., 2003) data. Another limitation was that the number of Leukonychia was also gathered using a non-validated tool and all results were self-reported. Conclusion: This study suggested that there is no correlation between the presences of Leukonychia and calcium or zinc intake scores. Although it would be beneficial if this study was repeated using more robust measures of calcium and zinc intake and Leukonychia, and within a larger population known to have low calcium and zinc intakes. References: Day, N., McKeown, N., Wong, M., Welch, A. & Bingham, S. (2001) Epidemiology assessment of diet: a comparison of a 7-day diary with a food frequency questionnaire using urinary markers of nitrogen, potassium and sodium. Int. J. Epidemiol. 30, 309–317. Henderson, L., Irving, K., Gregory, J., Bates, C.J., Prentice, A., Perks, J., Swan, G. & Farron, M. (2003) National Diet and Nutrition Survey: Adults aged 19–64 years. Vol 3:Vitamin and mineral intake and urinary analytes. London: TSO. Holford, P. (1998) The Optimum Nutrition Bible: The Book You Have to Read if You Care About Your Health. London: Piatkus Books. McKeith, G. (2008) Food Bible: The Complete A-Z Guide to a Healthy Life. London: Michael Joseph. Mitchell, J.C. (1953) A clinical study of Leukonychia. Br. J. Dermatol. 65, 121–130.
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Leukonychia on finger nails as a marker of calcium and/or zinc deficiency
Journal of Human Nutrition and Dietetics, 2011Co-Authors: Z. Morgan, H. WickettAbstract:Background: Popular lay media claim that the aetiology of Leukonychia (white spots) on finger nails is due to calcium and/or zinc (McKeith, 2008; Holford, 1998) deficiency. No studies are available in scientific literature to support or refute these claims. Cited causes in dermatology journals include, trophic disturbances, gender, hand dominance, nail trauma and orange stick usage (Mitchell, 1953) although this is dated. This small scale study aimed to establish if there is a correlation between calcium and/or zinc intakes and the presence or absence of Leukonychia on finger nails. Methods: A cross sectional survey was completed by 82 university undergraduate students. The study was approved by the University ethics panel. A convenience sample was taken from students enrolled on courses within the School of Health Science. A self administered questionnaire collected data on the number of Leukonychia present on participant's finger nails, participant's opinions on Leukonychia's aetiology, calcium and zinc intakes, age, gender, handedness, supplement usage, activities and orange stick usage. A food frequency questionnaire, adapted from the tool used in the European Prospective Investigation into Cancer (EPIC) (Day et al., 2001), was developed to allot participants calcium and zinc intake scores. Data was coded and analysed using the Statistical Package for Social Sciences (SPSS) version 17. Spearmans Correlation was used to assess the relationship between calcium and zinc intake scores and the number of Leukonychia present. Results: The majority of participants thought that Leukonychia was a result of a singular or multiple nutrient deficiency (51%), mainly either calcium or zinc. Leukonychia was present in 46% of the sample. It was not significantly associated with calcium intake (P = 0.681), zinc intake (P = 0.604), age (P = 0.715), gender (P = 0.089), hand dominance (P = 0.151), multivitamin/mineral usage (n = 62, P = 0.655) or orange stick usage (n = 12, P = 0.961). The majority (63%) of participants reported to take part in activities that knock their hands frequently. A correlation was found between activities that knock participants hands frequently and the number of Leukonychia present on finger nails (P = 0.000, t = −4.902, df = 77). Discussion: The results showed there was no correlation between calcium or zinc intake scores and Leukonychia. Participant's intakes scores followed similar patterns to the actual intakes observed in a survey of the UK general population (Henderson et al., 2003). For both nutrients male intake score where higher than females and intake scores for calcium increased with age. However a limitation of this study is that nutrient intake was estimated using a non-validated tool which provided an arbitrary intake score that could not be quantitatively compared to the National Diet and Nutrition Surveys (Henderson et al., 2003) data. Another limitation was that the number of Leukonychia was also gathered using a non-validated tool and all results were self-reported. Conclusion: This study suggested that there is no correlation between the presences of Leukonychia and calcium or zinc intake scores. Although it would be beneficial if this study was repeated using more robust measures of calcium and zinc intake and Leukonychia, and within a larger population known to have low calcium and zinc intakes. References: Day, N., McKeown, N., Wong, M., Welch, A. & Bingham, S. (2001) Epidemiology assessment of diet: a comparison of a 7-day diary with a food frequency questionnaire using urinary markers of nitrogen, potassium and sodium. Int. J. Epidemiol. 30, 309–317. Henderson, L., Irving, K., Gregory, J., Bates, C.J., Prentice, A., Perks, J., Swan, G. & Farron, M. (2003) National Diet and Nutrition Survey: Adults aged 19–64 years. Vol 3:Vitamin and mineral intake and urinary analytes. London: TSO. Holford, P. (1998) The Optimum Nutrition Bible: The Book You Have to Read if You Care About Your Health. London: Piatkus Books. McKeith, G. (2008) Food Bible: The Complete A-Z Guide to a Healthy Life. London: Michael Joseph. Mitchell, J.C. (1953) A clinical study of Leukonychia. Br. J. Dermatol. 65, 121–130.
Romina Rodríguez-lojo - One of the best experts on this subject based on the ideXlab platform.
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Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?
European journal of dermatology : EJD, 2011Co-Authors: Romina Rodríguez-lojo, Jesús Del Pozo, Felipe Sacristán, J.m. Barja, Francisca Piñeyro-molina, Lucia Pérez-varelaAbstract:The association of familial totalis Leukonychia with multiple pilar cysts is a rare condition that could represent a separate syndromic entity. Since Bauer described a family with totalis Leukonychia and sebaceous cysts in 1920, only four new affected families have been reported. We report a five-generation family with a total Leukonychia and multiple pilar cysts on the scalp. The hypothesis of a deficiency of a gene regulating the structure of keratin has been postulated but the exact genetic mechanism has not been yet determined. In our family, no other keratinizing structures were involved.
Wasim Ahmad - One of the best experts on this subject based on the ideXlab platform.
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Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary Leukonychia
European journal of dermatology : EJD, 2012Co-Authors: Hina Mir, Saadullah Khan, Muhammad Shoaib Arif, Ghazanfar Ali, Abdul Wali, Muhammad Ansar, Wasim AhmadAbstract:Hereditary Leukonychia or porcelain nails is a nail dystrophy characterized by whitening of the nail plates in all nails of the hands and feet. It may exhibit an autosomal recessive or autosomal dominant pattern of inheritance. Mutations in the gene PLCD1 have been reported to underlie hereditary Leukonychia. In the present study, two Pakistani families with autosomal recessive hereditary Leukonychia were investigated. Affected members of the families exhibited characteristic features of hereditary Leukonychia with involvement of nails on both the hands and feet. Genotyping using microsatellite markers linked the families to the gene PLCD1 on chromosome 3p22.2. Sequence analysis of the gene detected one novel (p.Ser740ArgfsX19) and one previously reported mutation (p.Arg437X). This study expands spectrum of the mutations in the gene PLCD1 causing hereditary Leukonychia.