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Journal articles on the topic 'Syndrome de Chanarin-Dorfman'

Author: Grafiati

Published: 4 June 2021

Last updated: 6 February 2022

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1

Srebrnik, Avigdor, Ethel Tur, Chaim Perluk, Monica Elman, Glenda Messer, Bianca Ilie, and Anatol Krakowski. "Dorfman-Chanarin syndrome." Journal of the American Academy of Dermatology 17, no. 5 (November 1987): 801–8. http://dx.doi.org/10.1016/s0190-9622(87)70266-7.

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2

Gandhi, Vijay, Puneet Aggarwal, Jyoti Dhawan, UshaRani Singh, and SN Bhattacharya. "Dorfman-Chanarin syndrome." Indian Journal of Dermatology, Venereology and Leprology 73, no. 1 (2007): 36. http://dx.doi.org/10.4103/0378-6323.30650.

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3

Nanda, Arti, Rajeev Sharma, Amrinder J. Kanwar, Surrinder Kaur, and Sumitra Dash. "Dorfman-Chanarin Syndrome." International Journal of Dermatology 29, no. 5 (June 1990): 349–51. http://dx.doi.org/10.1111/j.1365-4362.1990.tb04758.x.

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4

Ranglani, Harshal, and Pankaj Shukla. "Chanarin–Dorfman syndrome." Indian Journal of Paediatric Dermatology 21, no. 1 (2020): 42. http://dx.doi.org/10.4103/ijpd.ijpd_95_19.

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5

Demir, B., A. Sen, L. Bilik, U. Deveci, I. H. Ozercan, D. Cicek, and Y. Dogan. "Chanarin-Dorfman syndrome." Clinical and Experimental Dermatology 42, no. 6 (June 21, 2017): 699–701. http://dx.doi.org/10.1111/ced.13163.

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6

Srebrnik, Avigdor, Sarah Brenner, Bianca Ilie, and Glenda Messer. "Dorfman-Chanarin Syndrome." American Journal of Dermatopathology 20, no. 1 (February 1998): 79–85. http://dx.doi.org/10.1097/00000372-199802000-00016.

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7

Chilkar, Sujeet, Pradnya Paikrao, and Ira Shah. "Dorfman-Chanarin syndrome." Indian Journal of Gastroenterology 31, no. 3 (June 2012): 147–48. http://dx.doi.org/10.1007/s12664-012-0212-2.

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8

Barnérias, Christine, Guillaume Bassez, and Olivier Schischmanoff. "Syndrome de Chanarin-Dorfman." médecine/sciences 31 (November 2015): 11–13. http://dx.doi.org/10.1051/medsci/201531s303.

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9

Ersoy, Özdal, Canan Alkım, Mehmet Derya Onuk, Hüseyin Demirsoy, and Dilek Argon. "A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report." International Journal of Hepatology 2011 (2011): 1–4. http://dx.doi.org/10.4061/2011/341372.

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Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis

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10

Gupta, P., Kajal Kiran Dhingra, Vibha Kawatra, T. Singh, and S. Yadav. "Dorfman–Chanarin syndrome with cirrhosis." Pathology 40, no. 6 (October 2008): 650–53. http://dx.doi.org/10.1080/00313020802321166.

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11

EI-Kabbany, Zeinab, Mona Rashad, Rasha Tareef, Nadia Galal, and Solar M. Eisayed. "Dorfman-Chanarin syndrome in Egypt." American Journal of Medical Genetics 121A, no. 1 (July 30, 2003): 75–78. http://dx.doi.org/10.1002/ajmg.a.10188.

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12

Taskin, Erdal, Saadet Akarsu, A. Denizmen Aygun, Ferda Ozlu, and Mehmet Kilic. "Rickets with Dorfman-Chanarin Syndrome." Acta Haematologica 117, no. 1 (November 8, 2006): 16–19. http://dx.doi.org/10.1159/000096784.

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13

Al-Qahtani, Fakherah N., and Abdullah A. Salloum. "Chanarin-Dorfman Syndrome: A Case Report." Annals of Saudi Medicine 22, no. 5-6 (September 2002): 354–55. http://dx.doi.org/10.5144/0256-4947.2002.354.

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14

Doganci, T., F. Gurakar, A. Karaduman, D. Orhan, and M. Caglar. "Hepatobiliary and pancreatic: Dorfman-Chanarin syndrome." Journal of Gastroenterology and Hepatology 20, no. 1 (January 2005): 156. http://dx.doi.org/10.1111/j.1440-1746.2004.03752.x.

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15

Mungan, Neslihan Onenli, Ebru Tuncez, Berna Seker Yilmaz, Goksel Leblebisatan, Zeynep Kunt, Derya Bulut, and Deniz Kor. "Chanarin-Dorfman syndrome: A case report." Molecular Genetics and Metabolism 117, no. 2 (February 2016): S87—S88. http://dx.doi.org/10.1016/j.ymgme.2015.12.383.

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16

Lobo, Carol, AnupaMary Job, Vijay Aithal, and AM Shanthala Devi. "Dorfman-Chanarin syndrome: An unusual presentation." Indian Journal of Paediatric Dermatology 20, no. 2 (2019): 163. http://dx.doi.org/10.4103/ijpd.ijpd_77_18.

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17

Methre, Seema T., Ravibhushan R. Godbole, Priyanka S. Nayar, and Rumma V. Manchanda. "Dorfman–Chanarin Syndrome: A Case Report." Indian Journal of Hematology and Blood Transfusion 28, no. 1 (July 6, 2011): 50–53. http://dx.doi.org/10.1007/s12288-011-0091-1.

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18

Nur, Banu Guzel, Pinar Gencpinar, Ayse Yuzbasıoglu, Serap Dokmeci Emre, and Ercan Mihci. "Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation." European Journal of Medical Genetics 58, no. 4 (April 2015): 238–42. http://dx.doi.org/10.1016/j.ejmg.2015.01.011.

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19

Cakmak, Erol, and Gokhan Bagci. "Chanarin‐Dorfman Syndrome: A comprehensive review." Liver International 41, no. 5 (March 18, 2021): 905–14. http://dx.doi.org/10.1111/liv.14794.

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20

Durdu, Murat, Fahrettin Akay, Tevfik Alper, and SerkanYasar Celik. "Tzanck smear finding of Dorfman-Chanarin syndrome." Indian Journal of Dermatology, Venereology and Leprology 75, no. 6 (2009): 625. http://dx.doi.org/10.4103/0378-6323.57737.

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21

Huigen, Marleen C. D. G., Marinette van der Graaf, Eva Morava, A. Carin M. Dassel, Maurice A. M. van Steensel, Marieke M. B. Seyger, Ron A. Wevers, and Michèl A. Willemsen. "Cerebral lipid accumulation in Chanarin–Dorfman Syndrome." Molecular Genetics and Metabolism 114, no. 1 (January 2015): 51–54. http://dx.doi.org/10.1016/j.ymgme.2014.10.016.

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22

Verma, S. B., A. Mittal, U. Wollina, G. H. Eckstein, K. Gohel, and K. Giehl. "Chanarin–Dorfman syndrome with rare renal involvement." British Journal of Dermatology 176, no. 2 (January 29, 2017): 545–48. http://dx.doi.org/10.1111/bjd.15156.

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23

Balti, Amine, Ben Abdelaziz Ines, Mohamed Zakaria Saied, Samir Belal, Samia Ben Sassi, and Fayçel Hentati. "Syndrome de Dorfman–Chanarin : à propos d’un cas." Revue Neurologique 175 (April 2019): S35—S36. http://dx.doi.org/10.1016/j.neurol.2019.01.116.

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24

Pujol, R. M., M. Gilaberte, A. Toll, L. Florensa, J. Lloreta, M. A. Gonzalez-Ensenat, J. Fischer, and A. Azon. "Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome." British Journal of Dermatology 153, no. 4 (October 2005): 838–41. http://dx.doi.org/10.1111/j.1365-2133.2005.06828.x.

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25

Bahloul, E., N. Louhichi, K. Sellami, H. Mesrati, L. Trabelsi, Z. Mnif, C. Triki, F. Fakhfakh, S. Marrakchi, and H. Turki. "Atteinte thyroïdienne dans le syndrome de Dorfman-Chanarin." Annales de Dermatologie et de Vénéréologie 145, no. 12 (December 2018): S69—S70. http://dx.doi.org/10.1016/j.annder.2018.09.043.

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26

Israeli, S., Y. Pessach, O. Sarig, I. Goldberg, and E. Sprecher. "Beneficial effect of acitretin in Chanarin-Dorfman syndrome." Clinical and Experimental Dermatology 37, no. 1 (October 10, 2011): 31–33. http://dx.doi.org/10.1111/j.1365-2230.2011.04164.x.

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27

Bruno, Claudio, Enrico Bertini, Maja Di Rocco, Denise Cassandrini, Giuseppe Ruffa, Teresa De Toni, Marco Seri, et al. "Clinical and genetic characterization of Chanarin–Dorfman syndrome." Biochemical and Biophysical Research Communications 369, no. 4 (May 2008): 1125–28. http://dx.doi.org/10.1016/j.bbrc.2008.03.010.

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28

Mela, Donatella, Alberto Artom, Riccardo Goretti, Giuseppe Varagona, Marusca Riolfo, Silvia Ardoino, Giuliana Sanguineti, Alessandro Vitali, and Sandro Ricciardi. "Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement." Journal of Hepatology 25, no. 5 (November 1996): 769–71. http://dx.doi.org/10.1016/s0168-8278(96)80251-0.

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29

Mitra, Souvik, Moumita Samanta, Mihir Sarkar, and Sukanta Chatterjee. "Dorfman-Chanarin syndrome: A rare neutral lipid storage disease." Indian Journal of Pathology and Microbiology 53, no. 4 (2010): 799. http://dx.doi.org/10.4103/0377-4929.72098.

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30

Snoussi, Mouna, Chifaa Damak, Faten Frikha, Fatma Megdich, Choumous Kallel, and Zouhir Bahloul. "Dorfman-Chanarin syndrome in adult patient of southern Tunisia." La Presse Médicale 47, no. 1 (January 2018): 92–94. http://dx.doi.org/10.1016/j.lpm.2017.10.022.

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31

Venencie, Pierre Y., Didier Armengaud, Christine Foldes, Annick Vieillefond, Laure Coulombel, and Michele Hadchouel. "Ichthyosis and Neutral Lipid Storage Disease (Dorfman-Chanarin Syndrome)." Pediatric Dermatology 5, no. 3 (August 1988): 173–77. http://dx.doi.org/10.1111/j.1525-1470.1988.tb01165.x.

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32

Pike, Gillian N., Simon Jones, Stefan Coassin, Florian Kronenberg, and Andrew Will. "Jordan’s anomaly in a case of Chanarin-Dorfman syndrome." British Journal of Haematology 155, no. 4 (June 21, 2011): 412. http://dx.doi.org/10.1111/j.1365-2141.2011.08780.x.

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33

Bouadjar, B., and J. Fisher. "Syndrome de Chanarin-Dorfman : expérience du CHU BEO Alger." Annales de Dermatologie et de Vénéréologie 140 (April 2013): S13. http://dx.doi.org/10.1016/j.annder.2013.01.351.

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34

Kopp, Julia, Cristina Has, Alrun Hotz, Sarah C. Grünert, and Judith Fischer. "Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome." Genes 12, no. 8 (July 29, 2021): 1164. http://dx.doi.org/10.3390/genes12081164.

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Autosomal recessive Chanarin-Dorfman syndrome (CDS, MIM #275630) is defined as a neutral lipid storage disease with ichthyosis (NLSDI) due to an accumulation of lipid droplets in a variety of different tissues including liver and muscle cells, leucocytes, fibroblasts and nerve cells It is caused by biallelic mutations in the abhydrolase domain containing 5 gene (ABHD5, MIM *604780) which is localized on the short arm of chromosome 3. Here we report an 18 month-old girl in whom we have identified the homozygous ABHD5 mutation c.700C > T, p.(Arg234*). Since none of the parents carried this point mutation, parentage was confirmed by microsatellite marker analysis. Suspected uniparental disomy (UPD) was confirmed by microsatellite genotyping over the entire chromosome 3 and indicated a maternal origin. UPD is an extremely rare event that is not necessarily pathogenic, but may cause disease if the affected chromosome contains genes that are imprinted. Here we report the first case of Chanarin-Dorfman syndrome due to a de novo ABHD5 mutation in the maternal germ cell, combined with a maternal uniparental isodisomy of chromosome 3. This case demonstrates that genetic analysis of the patient and both parents is crucial to provide correct genetic counseling.

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35

Çuhaci, Fatma, Rüya Mutluay, Burhan Aksakal, and Yasemin Erten. "A case with full clinical manifestations of Dorfman-Chanarin syndrome." Open Medicine 2, no. 1 (March 1, 2007): 116–21. http://dx.doi.org/10.2478/s11536-007-0010-x.

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AbstractDorfman-Chanarin syndrome (DCS), is a rare, autosomal recessive disorder associated with lipid metabolism. It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable involvement of organs. We report a Turkish man with the complete syndrome, who described family history of ichthyosis. To best of our knowledge this is the sixth case from Turkish origin to date. In addition to congenital ichthyosis he had also strabismus, horizantal nystagmus, bilateral neurosensory hearing loss, hepatomegaly and splenomegaly. Liver biopsy revealed hidrophic degeneration in hepatocytes, steatosis, enlargement and inflammation in portal areas and portal central fibrosis, consistent with cirrhosis. Write stained peripheral blood smear examination revealed lipid vacuoles in all of the neutrophils consistent with Jordan’s anomaly. We think that, it is essential to evaluate the peripheral blood smear of the patients with ichthyosis and also patients with DCS should be informed and warned about the results of consanquinous marriage.

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36

Çamlar, Seçil Arslansoyu, Pınar Gençpınar, Balahan Makay, Ayşe Yüzbaşıoğlu, Nur Arslan, Serap Emre Dökmeci, Özden Anal, and Galip Köse. "Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings." Turkish Journal of Hematology 30, no. 1 (March 1, 2013): 72–75. http://dx.doi.org/10.4274/tjh.93798.

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37

Ayadi, I., S. Sakka, E. Ellouze, H. Ben Othman, F. Kammoun, F. Fakhfekh, and C. Triki. "Pensez au syndrome de Dorfman-Chanarin devant une ichtyose cutanée." Revue Neurologique 170 (April 2014): A156. http://dx.doi.org/10.1016/j.neurol.2014.01.413.

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38

Pahwa, Manish, Rakhee Kar, Avninder Singh, Alka Goel, V. Ramesh, and Rakesh Jain. "Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report." International Journal of Dermatology 47, no. 12 (December 2008): 1257–59. http://dx.doi.org/10.1111/j.1365-4632.2008.03793.x.

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39

Caux, F., Z. Ben Selma, L. Laroche, J. F. Prud'homme, and J. Fischer. "CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome." American Journal of Medical Genetics 129A, no. 2 (2004): 214. http://dx.doi.org/10.1002/ajmg.a.30228.

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40

Pena-Penabad, C., M. Almagro, W. Martinez, J. Garcia-Silva, J. Del Pozo, M. T. Yebra, C. Sanchez-Manzano, and E. Fonseca. "Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features." British Journal of Dermatology 144, no. 2 (February 2001): 430–32. http://dx.doi.org/10.1046/j.1365-2133.2001.04051.x.

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41

BANULS, J., I. BETLLOCH, R. BOTELLA, A. SEVILA, A. MORELL, and P. ROMAN. "Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report." Clinical and Experimental Dermatology 19, no. 5 (September 1994): 434–37. http://dx.doi.org/10.1111/j.1365-2230.1994.tb02705.x.

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42

Dumas, M., U. Warzocha, P. O. Schischmanoff, A. Guyot, G. Safa, C. Prost-Squarcioni, A. Lévy, D. Roulot, L. Laroche, and F. Caux. "Syndrome de Dorfman-Chanarin : analyse d’une série de 10 patients." Annales de Dermatologie et de Vénéréologie 141, no. 12 (December 2014): S370—S371. http://dx.doi.org/10.1016/j.annder.2014.09.327.

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43

Gupta, Neerja, Sunil Gothwal, Amit Kumar Satpathy, S. Missaglia, D. Tavian, Prasenjit Das, Dipsal Timila, and Madhulika Kabra. "Chanarin Dorfman syndrome: a case report with novel nonsense mutation." Gene 575, no. 2 (January 2016): 359–62. http://dx.doi.org/10.1016/j.gene.2015.09.004.

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44

Tamhankar, PM, S. Iyer, S. Sanghavi, and U. Khopkar. "Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene." Journal of Postgraduate Medicine 60, no. 3 (2014): 332. http://dx.doi.org/10.4103/0022-3859.138826.

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45

Bernier, L., D. Larouche, L. Germain, and J. Davignon. "4P-1205 Oily ichtyosis is a phenocopy of Chanarin-Dorfman syndrome." Atherosclerosis Supplements 4, no. 2 (January 2003): 340. http://dx.doi.org/10.1016/s1567-5688(03)91461-9.

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46

Al‐Hage, J., O. Abbas, G. Nemer, and M. Kurban. "Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene." Clinical and Experimental Dermatology 45, no. 2 (September 4, 2019): 257–59. http://dx.doi.org/10.1111/ced.14062.

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47

Selimoglu, Mukadder Ayse, Mukaddes Esrefoglu, Mehmet Gul, Serdal Gungor, Cigdem Yildirim, and Muammer Seyhan. "Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder." Pediatric Dermatology 26, no. 1 (January 2009): 40–43. http://dx.doi.org/10.1111/j.1525-1470.2008.00818.x.

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48

Gomez-Moyano, E., D. J. Godoy-Diaz, L. Ponce-Verdugo, A. Sanz-Trelles, A. Vera-Casaño, and C. Sierra-Salinas. "Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family." Journal of the European Academy of Dermatology and Venereology 30, no. 1 (August 4, 2014): 157–59. http://dx.doi.org/10.1111/jdv.12651.

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49

Ghariani Fetoui, N., S. Mokni, N. Nabli, Y. Hasni, R. Gammoudi, A. Aounallah, L. Boussofara, et al. "Ichtyose associée à une hypertriglycéridémie : pensez au syndrome de Dorfman–Chanarin !" Annales d'Endocrinologie 79, no. 4 (September 2018): 507. http://dx.doi.org/10.1016/j.ando.2018.06.1037.

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50

Mogahed, Engy A., Ahmed El-Hennawy, Rokaya El-Sayed, and Hanaa El-Karaksy. "Chanarin–Dorfman syndrome: A case report and review of the literature." Arab Journal of Gastroenterology 16, no. 3-4 (September 2015): 142–44. http://dx.doi.org/10.1016/j.ajg.2015.06.006.

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