Ichthyosis
Harlequin Ichthyosis
By: Dan Hood, Matt Sharbaugh, Brian Monterroso
http://academics.hamilton.edu
Diagnosis of X-Linked Recessive Ichthyosis
http://comenius.susqu.edu
Genodermatoses and Acquired Syndromes
Rick Lin, DO MPH
http://www.atsu.edu
Genodermatoses and Acquired Syndromes,
Adam Wray, D.O
http://www.atsu.edu/
Ichthyosis vulgaris
Julia Akaah M.D.
http://www.med.wayne.edu
Atopic Dermatitis
Nnenna G. Agim, MD
http://www.bcm.edu
X-Linked Ichthyosis
http://www.med.unc.edu/
Neonatal Dermatology
Mikelle Key-Solle MD
http://pediatrics.med.unc.edu/
Dermatology and Systemic Medical Associations
Johnnie M. Woodson, M.D.
http://www.medicine.nevada.
Matters of Sex, Multifactorial Traits & Behavior
http://www.canyons.edu
Genodermatosis
http://www.atsu.edu
Epidermal Nevi, Neoplasms and Cysts
JoAnne M. LaRow, D.O.
http://www.atsu.edu
279 free full text published articles
1. Pallagatti S, Sheikh S, Kaur A, Aggarwal A, Singh R. X-linked ichthyosis along with epidermolysis bullosa. Contemp Clin Dent. 2012 Apr;3(Suppl 1).S96-8.
2. Li H, Törmä H. Retinoids Reduce Formation of Keratin Aggregates in Heat-stressed Immortalized Keratinocytes from an Epidermolytic Ichthyosis Patient with a KRT10 Mutation*. Acta Derm Venereol. 2012 Apr 16. doi. 10.2340/00015555-1368. [Epub ahead of print]
3. Tokuriki A, Kiyohara T, Ido T, Kumakiri M. A Case of Lymphomatoid Papulosis with Extensive Limb Disease Followed by Extracutaneous Involvement and Acquired Ichthyosis. Acta Derm Venereol. 2012 Jun 8;92(3).278-279. doi. 10.2340/00015555-1314.
4. Carrascosa-Romero MC, Suela J, Alfaro-Ponce B, Cepillo-Boluda AJ. [X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion]. Rev Neurol. 2012 Feb 16;54(4).241-8. Review. Spanish.
5. Gånemo A, Sommerlund M, Vahlquist A. Oral Alitretinoin in Congenital Ichthyosis. A Pilot Study Shows Variable Effects and a Risk of Central Hypothyroidism. Acta Derm Venereol. 2012 Jun 8;92(3).256-257. doi. 10.2340/00015555-1302.
6. Winge MC, Hoppe T, Berne B, Vahlquist A, Nordenskjöld M, Bradley M, Törmä H. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. PLoS One. 2011;6(12).e28254. Epub 2011 Dec 2.
7. Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011 Dec 9;89(6).745-50. Epub 2011 Nov 17.
8. Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011 Dec;22(24).4776-86. Epub 2011 Oct 26.
9. Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet. 2011 Oct 7;89(4).564-71. doi. 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22.
10. Ozgur OR, Akcay L, Tutas N, Ozkurt Y. Cicatricial upper and lower eyelid ectropion in an ichthyosis patient. Surgical correction. J Dermatol Case Rep. 2011 Jun 6;5(2).27-9.
11. Alshami M, Bawazir MA, Atwan AA. Photoletter to the editor. A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. IFAP-PPK syndrome? J Dermatol Case Rep. 2011 Mar 26;5(1).14-6.
12. Li Q, Frank M, Akiyama M, Shimizu H, Ho SY, Thisse C, Thisse B, Sprecher E, Uitto J. Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Dis Model Mech. 2011 Nov;4(6).777-85. Epub 2011 Aug 4.
13. Kim EJ, Jeong MS, Li K, Park MK, Lee MK, Yoon Y, Cho DY, Seo SJ. Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. Ann Dermatol. 2011 May;23(2).170-6. Epub 2011 May 27.
14. Chakraborti C, Tripathi P, Bandopadhyay G, Mazumder DB. Congenital bilateral ectropion in lamellar ichthyosis. Oman J Ophthalmol. 2011 Jan;4(1).35-6.
15. Höpker LM, Ribeiro CG, Oliveira LM, Moreira AT. Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP). report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment. Arq Bras Oftalmol. 2011 Jan-Feb;74(1).55-7.
16. Mégarbané H, Mégarbané A. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis. 2011 May 21;6.29. Review.
17. Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol. 2011 May;178(5).2252-63.
18. Hazuku T, Yamada K, Imaizumi M, Ikebe T, Shinoda K, Nakatsuka K, Sekiguchi K, Izumi T, Nishida Y. Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis. Case Report Ophthalmol. 2011 Feb 21;2(1).73-7.
19. Sobol M, Dahl N, Klar J. FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome. BMC Res Notes. 2011 Mar 30;4.90.
20. Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr 8;88(4).482-7.
21. Frateschi S, Camerer E, Crisante G, Rieser S, Membrez M, Charles RP, Beermann F, Stehle JC, Breiden B, Sandhoff K, Rotman S, Haftek M, Wilson A, Ryser S, Steinhoff M, Coughlin SR, Hummler E. PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin. Nat Commun. 2011 Jan 18;2.161.
22. Milstone LM, Rizzo WB, Pickford JR. Meeting report from Frontiers in Ichthyosis Research. J Invest Dermatol. 2011 Feb;131(2).279-82.
23. Yu X, Espinoza-Lewis RA, Sun C, Lin L, He F, Xiong W, Yang J, Wang A, Chen Y. Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. Cell Tissue Res. 2010 Dec;342(3).401-10. Epub 2010 Nov 16.
24. Mrabet D, Rekik S, Khiari H, Sahli H, Azaiez O, Cheour I, Elleuch M, Mnif E, Mokni M, Meddeb N, Sellami S. [An unusual association. rheumatoid arthritis associated with vascularitis myositis and ichthyosis]. Tunis Med. 2010 Nov;88(11).856-7. French.
25. Schütz M, Auth T, Gehrt A, Bosen F, Körber I, Strenzke N, Moser T, Willecke K. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum Mol Genet. 2011 Jan 1;20(1).28-39. Epub 2010 Oct 6.
26. Vahlquist A. Pleomorphic ichthyosis. proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling. Acta Derm Venereol. 2010 Sep;90(5).454-60. Review.
27. Traupe H. In this issue. Rapid categorization of mild types of autosomal recessive congenital ichthyosis undergoing a phenotypic shift. should it be called "pleomorphic ichthyosis" or "congenital ichthyosis with mild scaling (CIMS)"? Acta Derm Venereol. 2010 Sep;90(5).450-3.
28. Taïeb A, Morice-Picard F. In this issue. Comments on the proposed term pleomorphic ichthyosis. Acta Derm Venereol. 2010 Sep;90(5).450-3.
29. Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science. 2010 Oct 1;330(6000).94-7. Epub 2010 Aug 26.
30. Bellew S, Del Rosso JQ. Overcoming the Barrier Treatment of Ichthyosis. A Combination-therapy Approach. J Clin Aesthet Dermatol. 2010 Jul;3(7).49-53.
31. Preumont A, Rzem R, Vertommen D, Van Schaftingen E. HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. Biochem J. 2010 Oct 15;431(2).237-44.
32. Jiang H, Jans R, Xu W, Rorke EA, Lin CY, Chen YW, Fang S, Zhong Y, Eckert RL. Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. J Biol Chem. 2010 Oct 8;285(41).31634-46. Epub 2010 Jul 27.
33. Wang WH, Song SJ, Li LF, Zhang L, Yang SM, Zhang Q, Wang YY, Sun TT. Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type. Eur J Dermatol. 2010 Sep-Oct;20(5).567-72. Epub 2010 Jul 7.
34. Sánchez HA, Mese G, Srinivas M, White TW, Verselis VK. Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. J Gen Physiol. 2010 Jul;136(1).47-62.
35. Trindade F, Fiadeiro T, Torrelo A, Hennies HC, Hausser I, Traupe H. Bathing suit ichthyosis. Eur J Dermatol. 2010 Jul-Aug;20(4).447-50. Epub 2010 Jun 3. Review.
36. Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, Naoe A, Kitahara T, Tanaka S, Shimizu H. Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. Am J Pathol. 2010 Jul;177(1).106-18. Epub 2010 May 20.
37. O'Shaughnessy RF, Choudhary I, Harper JI. Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis. Hum Mol Genet. 2010 Jul 1;19(13).2594-605. Epub 2010 Apr 12.
38. Richard G, Bale SJ. Autosomal Recessive Congenital Ichthyosis . 2001 Jan 10 [updated 2012 Apr 19]. In. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA). University of Washington, Seattle; 1993-. Available from http.//www.ncbi.nlm.nih.gov/books/NBK1420/
39. Akiyama M, Sakai K, Yanagi T, Fukushima S, Ihn H, Hitomi K, Shimizu H. Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis. Am J Pathol. 2010 Apr;176(4).1592-9. Epub 2010 Feb 18.
40. Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res. 2010 Aug;302(6).443-51. Epub 2010 Jan 5.
41. Sanli H, Akay BN, Sen BB, Kocak AY, Emral R, Bostanci S. Acquired ichthyosis associated with type 1 diabetes mellitus. Dermatoendocrinol. 2009 Jan;1(1).34-6.
42. Wajid M, Kurban M, Shimomura Y, Christiano AM. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology. 2010;220(1).8-14. Epub 2009 Dec 10.
43. Turgut B, Aydemir O, Kaya M, Türkçüoğlu P, Demir T, Celiker U. Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye. Clin Ophthalmol. 2009;3.611-3. Epub 2009 Nov 16.
44. Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV. Keratitis-ichthyosis-deafness (KID) syndrome. Dermatol Online J. 2009 Aug 15;15(8).11.
45. Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, Fischer J. Genotypic and clinical spectrum of self-improving collodion ichthyosis. ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol. 2010 Feb;130(2).438-43. Epub 2009 Nov 5.
46. Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet. 2009 Aug;85(2).248-53. Epub 2009 Jul 23.
47. Djalilian AR, Kim JY, Saeed HN, Holland EJ, Chan CC. Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. Eye (Lond). 2010 Apr;24(4).738-40. Epub 2009 Jul 10.
48. Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009 Jun;129(6).1319-21.
49. Levy O, Tishler M. Acquired ichthyosis as the primary manifestation of renal cell carcinoma. Isr Med Assoc J. 2009 Feb;11(2).121-2.
50. Szabo R, Kosa P, List K, Bugge TH. Loss of matriptase suppression underlies spint1 mutation-associated ichthyosis and postnatal lethality. Am J Pathol. 2009 Jun;174(6).2015-22. Epub 2009 Apr 23.
51. Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis. summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009 Apr;30(4).537-47. Review.
52. Aufenvenne K, Oji V, Walker T, Becker-Pauly C, Hennies HC, Stöcker W, Traupe H. Transglutaminase-1 and bathing suit ichthyosis. molecular analysis of gene/environment interactions. J Invest Dermatol. 2009 Aug;129(8).2068-71. Epub 2009 Feb 12.
53. Pavez Loriè E, Gånemo A, Borgers M, Wouters L, Blockhuys S, van de Plassche L, Törmä H, Vahlquist A. Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis. changes after oral treatment with liarozole. Acta Derm Venereol. 2009;89(1).12-20.
54. Thomas AC, Tattersall D, Norgett EE, O'Toole EA, Kelsell DP. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol. 2009 Mar;174(3).970-8. Epub 2009 Jan 29.
55. Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis. evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009 Jun;129(6).1421-8. Epub 2009 Jan 8.
56. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Palmer CN, Smith FJ, McLean WH, Shimizu H. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol. 2009 May;129(5).1302-5. Epub 2008 Nov 27.
57. Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb;46(2).103-11. Epub 2008 Oct 23.
58. Alef T, Torres S, Hausser I, Metze D, Türsen U, Lestringant GG, Hennies HC. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol. 2009 Apr;129(4).862-9. Epub 2008 Oct 9.
59. Titeux M, Mendonça V, Décha A, Moreira E, Magina S, Maia A, Lacaze-Buzy L, Mejía JE, Torrão L, Carvalho F, Eça-Guimarães J, Hovnanian A. Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. J Invest Dermatol. 2009 Mar;129(3).776-9. Epub 2008 Oct 9.
60. Nagaike K, Kawaguchi M, Takeda N, Fukushima T, Sawaguchi A, Kohama K, Setoyama M, Kataoka H. Defect of hepatocyte growth factor activator inhibitor type 1/serine protease inhibitor, Kunitz type 1 (Hai-1/Spint1) leads to ichthyosis-like condition and abnormal hair development in mice. Am J Pathol. 2008 Nov;173(5).1464-75. Epub 2008 Oct 2.
61. Smyth I, Hacking DF, Hilton AA, Mukhamedova N, Meikle PJ, Ellis S, Satterley K, Collinge JE, de Graaf CA, Bahlo M, Sviridov D, Kile BT, Hilton DJ. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet. 2008 Sep 19;4(9).e1000192. Erratum in. PLoS Genet. 2008 Oct;4(10). doi. 10.1371/annotation/02a793a0-160f-46b9-abaa-4a3d3eecdde2. Slattery, Keith [corrected to Satterley, Keith].
62. Nemoto-Hasebe I, Akiyama M, Yamada N, Inoue Y, Touge C, Shimizu H. Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment. Acta Derm Venereol. 2008;88(4).406-8.
63. Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet. 2008 Oct 1;17(19).3075-83. Epub 2008 Jul 15.
64. Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis. a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol. 2008 Jul;59(1).86-90. Review.
65. Mauldin EA, Credille KM, Dunstan RW, Casal ML. The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. Vet Pathol. 2008 Mar;45(2).174-80.
66. Désilets A, Béliveau F, Vandal G, McDuff FO, Lavigne P, Leduc R. Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. J Biol Chem. 2008 Apr 18;283(16).10535-42. Epub 2008 Feb 8.
67. Chen H, Ho JC, Sandilands A, Chan YC, Giam YC, Evans AT, Lane EB, McLean WH. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol. 2008 Jul;128(7).1669-75. Epub 2008 Jan 31. Erratum in. J Invest Dermatol. 2008 Oct;128(10).2545.
68. Murhekar K, Majhi U, Sridevi V, Rajkumar T. Does "ichthyosis uteri" have malignant potential? A case report of squamous cell carcinoma of endometrium associated with extensive ichthyosis uteri. Diagn Pathol. 2008 Jan 31;3.4.
69. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Ota M, Hata H, Evans AT, Palmer CN, Shimizu H, McLean WH. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol. 2008 Jun;128(6).1436-41. Epub 2008 Jan 17.
70. Vahlquist A, Gånemo A, Virtanen M. Congenital ichthyosis. an overview of current and emerging therapies. Acta Derm Venereol. 2008;88(1).4-14. Review.
71. Dardano S, Gandolfi B, Parma P, Polli M, Bighignoli B, Strillacci MG, Cozzi MC, Molteni L, Longeri M. Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina. J Hered. 2008 Jan-Feb;99(1).81-3. Epub 2007 Dec 28.
72. Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update. towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23.231-56. Review.
73. Liu P, Yang Q, Wang X, Feng A, Yang T, Yang R, Wang P, Yuang M, Liu M, Liu JY, Wang QK. Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. J Invest Dermatol. 2008 Jun;128(6).1418-22. Epub 2007 Dec 13.
74. Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, McLean WH, Hashimoto T. De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol. 2008 May;128(5).1323-5. Epub 2007 Nov 15.
75. List K, Currie B, Scharschmidt TC, Szabo R, Shireman J, Molinolo A, Cravatt BF, Segre J, Bugge TH. Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. J Biol Chem. 2007 Dec 14;282(50).36714-23. Epub 2007 Oct 16.
76. Sathish Kumar T, Scott XJ, Simon A, Raghupathy P. Vitamin D deficiency rickets with Lamellar ichthyosis. J Postgrad Med. 2007 Jul-Sep;53(3).215-7.
77. Wenghoefer M, Allam JP, Novak N, Maintz L, Martini M, Bergé S. Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. Eur J Dermatol. 2007 Sep-Oct;17(5).449-50. Epub 2007 Aug 2.
78. Phadnis SV, Griffin DR, Eady RA, Rodeck CH, Chitty LS. Prenatal diagnosis and management strategies in a family with a rare type of congenital ichthyosis. Ultrasound Obstet Gynecol. 2007 Nov;30(6).908-10. Review.
79. Liao H, Waters AJ, Goudie DR, Aitken DA, Graham G, Smith FJ, Lewis-Jones S, McLean WH. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol. 2007 Dec;127(12).2795-8. Epub 2007 Jul 26.
80. Hu ZM, Xie ZG, Wu LQ, Liang DS, Zhu HY, Pan Q, Long ZG, Dai HP, Xia JH, Xia K. [Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Jun;29(3).302-6. Chinese.
81. Fischer J, Negre-Salvayre A, Salvayre R. [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency. myopathy, ichthyosis, but no obesity]. Med Sci (Paris). 2007 Jun-Jul;23(6-7).575-8. French.
82. Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N. Congenital ichthyosis. mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet. 2007 Oct;44(10).615-20. Epub 2007 Jun 8.
83. Cho JK, Son JM, Lee DS, Park SJ, Cho SW, Shin ST. Harlequin ichthyosis in a HanWoo calf. J Vet Med Sci. 2007 May;69(5).553-5.
84. Krishnamurthy S, Kapoor S, Yadav S. Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. Indian Pediatr. 2007 Apr;44(4).301-3.
85. Rabhi M, Ennibi K, Harket A, Al Bouzidi A, Labraimi A, Chaari J, Toloune F. Acquired ichthyosis disclosing non-Hodgkin's malignant lymphoma. Intern Med. 2007;46(7).397-9. Epub 2007 Apr 2.
86. Wassif CA, Brownson KE, Sterner AL, Forlino A, Zerfas PM, Wilson WK, Starost MF, Porter FD. HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Hum Mol Genet. 2007 May 15;16(10).1176-87. Epub 2007 Apr 2.
87. Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet. 2007 Mar;80(3).467-77. Epub 2007 Jan 23.
88. Bianchi L, Papoutsaki M, Orlandi A, Citarella L, Chimenti S. Ichthyosiform mycosis fungoides. a neoplastic acquired ichthyosis. Acta Derm Venereol. 2007;87(1).82-3.
89. Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet. 2007 Feb;15(2).179-84. Epub 2006 Dec 13.
90. Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol. 2007 Apr;127(4).829-34. Epub 2006 Nov 30.
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