Ichthyosis Clinical Presentation

1. [Guideline] Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006 Jun. 117(6):2304-16. [QxMD MEDLINE Link].

2. Pietrusinski M, Stanczyk-Przyluska A, Chlebna-Sokól D, Borkowska E, Kaluzewski B, Borowiec M. Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis. Clin Exp Dermatol. 2014 Sep 23. [QxMD MEDLINE Link].

3. 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). 2009 Jul 10. [QxMD MEDLINE Link].

4. Levit NA, Sellitto C, Wang HZ, Li L, Srinivas M, Brink PR, et al. Aberrant Connexin26 Hemichannels Underlying Keratitis-Ichthyosis-Deafness Syndrome are Potently Inhibited by Mefloquine. J Invest Dermatol. 2014 Sep 17. [QxMD MEDLINE Link].

5. Bygum A, Virtanen M, Brandrup F, Gånemo A, Sommerlund M, Strauss G, et al. Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings. Acta Derm Venereol. 2012 Aug 29. [QxMD MEDLINE Link].

6. Scott CA, Rajpopat S, Di WL. Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction. Cell Tissue Res. 2012 Aug 4. [QxMD MEDLINE Link].

7. Sigurdsson H, Baldursson BT. Inverting Sutures With Systemic Retinoids and Lubrication Can Correct Ectropion in Ichthyosis. Ophthal Plast Reconstr Surg. 2014 Sep 11. [QxMD MEDLINE Link].

8. Akiyama M, Suzumori K, Shimizu H. Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age. Prenat Diagn. 1999 Feb. 19(2):167-71. [QxMD MEDLINE Link].

9. Al-Akloby OM. Association of atopic dermatitis with primary hereditary ichthyoses. Saudi Med J. 2004 Aug. 25(8):1097-9. [QxMD MEDLINE Link].

10. Baden HP, Imber M. Ichthyosis with an unusual constellation of ectodermal dysplasias. Clin Genet. 1989 Jun. 35(6):455-61. [QxMD MEDLINE Link].

11. Bale SJ, DiGiovanna JJ. Genetic approaches to understanding the keratinopathies. Adv Dermatol. 1997. 12:99-113; discussion 114. [QxMD MEDLINE Link].

12. Banse-Kupin L, Pelachyk JM. Ichthyosiform sarcoidosis. Report of two cases and a review of the literature. J Am Acad Dermatol. 1987 Oct. 17(4):616-20. [QxMD MEDLINE Link].

13. Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. 2002 Feb. 118(2):352-61. [QxMD MEDLINE Link].

14. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol. 1996 Mar-Apr. 13(2):105-13. [QxMD MEDLINE Link].

15. Casaroli Marano RP, Ortiz Stradtmann MA, Uxo M, Iglesias E. Ocular findings associated with congenital X-linked ichthyosis. Ann Ophthalmol. 1991 May. 23(5):167-72. [QxMD MEDLINE Link].

16. Chiaretti A, Schembri Wismayer D, Tortorolo L, Piastra M, Polidori G. Salicylate intoxication using a skin ointment. Acta Paediatr. 1997 Mar. 86(3):330-1. [QxMD MEDLINE Link].

17. Costagliola C, Fabbrocini G, Illiano GM, Scibelli G, Delfino M. Ocular findings in X-linked ichthyosis: a survey on 38 cases. Ophthalmologica. 1991. 202(3):152-5. [QxMD MEDLINE Link].

18. Cuevas-Covarrubias SA, Diaz-Zagoya JC, Rivera-Vega MR, et al. Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico. Int J Dermatol. 1999 Jul. 38(7):555-6. [QxMD MEDLINE Link].

19. Culican SM, Custer PL. Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin. Am J Ophthalmol. 2002 Sep. 134(3):442-3. [QxMD MEDLINE Link].

20. Derse M, Wannke E, Payer H, Rohrbach JM, Zierhut M. [Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)]. Klin Monatsbl Augenheilkd. 2002 May. 219(5):383-6. [QxMD MEDLINE Link].

21. Dilek I, Demirer T, Ustun C, et al. Acquired ichthyosis associated with chronic graft-versus-host disease following allogeneic peripheral blood stem cell transplantation in a patient with chronic myelogenous leukemia. Bone Marrow Transplant. 1998 Jun. 21(11):1159-61. [QxMD MEDLINE Link].

22. Gicquel JJ, Lami MC, Catier A, Balayre S, Dighiero P. [Limbal stem cell deficiency associated with KID syndrome, about a case]. J Fr Ophtalmol. 2002 Dec. 25(10):1061-4. [QxMD MEDLINE Link].

23. Gloerich J, Ijlst L, Wanders RJ, Ferdinandusse S. Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome. Mol Genet Metab. 2006 Sep-Oct. 89(1-2):111-5. [QxMD MEDLINE Link].

24. Happle R, Hoffmann R. Absence of male-pattern baldness in men with X-linked recessive ichthyosis? A hypothesis to be challenged. Dermatology. 1999. 198(3):231-2. [QxMD MEDLINE Link].

25. Hazan C, Orlow SJ, Schaffer JV. X-linked recessive ichthyosis. Dermatol Online J. 2005. 11(4):12. [QxMD MEDLINE Link].

26. Hoffjan S, Stemmler S. On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. Br J Dermatol. 2007 Sep. 157(3):441-9. [QxMD MEDLINE Link].

27. Hosomi N, Oiso N, Fukai K, Hanada K, Fujita H, Ishii M. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. J Dermatol Sci. 2007 Jan. 45(1):31-6. [QxMD MEDLINE Link].

28. Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet A. 2003 Oct 15. 122(3):246-51. [QxMD MEDLINE Link].

29. Ingordo V, D'Andria G, Gentile C, Decuzzi M, Mascia E, Naldi L. Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. Dermatology. 2003. 207(2):148-50. [QxMD MEDLINE Link].

30. Kaplan MH, Sadick NS, McNutt NS, Talmor M, Coronesi M, Hall WW. Acquired ichthyosis in concomitant HIV-1 and HTLV-II infection: a new association with intravenous drug abuse. J Am Acad Dermatol. 1993 Nov. 29(5 Pt 1):701-8. [QxMD MEDLINE Link].

31. Kawashima J, Akiyama M, Takizawa Y, Takahashi S, Matsuo I, Shimizu H. Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. Clin Exp Dermatol. 2005 Jul. 30(4):429-31. [QxMD MEDLINE Link].

32. Kuster W, Bohnsack K, Rippke F, et al. Efficacy of urea therapy in children with ichthyosis. A multicenter randomized, placebo-controlled, double-blind, semilateral study. Dermatology. 1998. 196(2):217-22. [QxMD MEDLINE Link].

33. König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000 Feb 14. 90(4):339-46. [QxMD MEDLINE Link].

34. Lacz NL, Schwartz RA, Kihiczak G. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. Int J Dermatol. 2005 Jan. 44(1):1-6. [QxMD MEDLINE Link].

35. Lee HW, Ahn SJ, Choi JC, et al. Acquired ichthyosis associated with an overlap syndrome of systemic sclerosis and systemic lupus erythematosus. J Dermatol. 2006 Jan. 33(1):52-4. [QxMD MEDLINE Link].

36. Leung PC, Ma GF. Ectropion of all four eyelids associated with severe ichthyosis congenita: a case report. Br J Plast Surg. 1981 Jul. 34(3):302-4. [QxMD MEDLINE Link].

37. Lucker GP, Heremans AM, Boegheim PJ, van de Kerkhof PC, Steijlen PM. Oral treatment of ichthyosis by the cytochrome P-450 inhibitor liarozole. Br J Dermatol. 1997 Jan. 136(1):71-5. [QxMD MEDLINE Link].

38. Marulli GC, Campione E, Chimenti MS, Terrinoni A, Melino G, Bianchi L. Type I lamellar ichthyosis improved by tazarotene 0.1% gel. Clin Exp Dermatol. 2003 Jul. 28(4):391-3. [QxMD MEDLINE Link].

39. Mayuzumi N, Ikeda S, Kawada H, Ogawa H. Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1 in cultured normal human keratinocytes. Br J Dermatol. 2005 May. 152(5):920-4. [QxMD MEDLINE Link].

40. Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005 Feb. 112(2):e1-6. [QxMD MEDLINE Link].

41. Montague I, Fox R, Mann R. Intra-amniotic debris identified at ultrasound scanning: a feature of congenital ichthyosis. Ultrasound Obstet Gynecol. 1997 May. 9(5):350-1. [QxMD MEDLINE Link].

42. Moran JL, Qiu H, Turbe-Doan A, et al. A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J Invest Dermatol. 2007 Aug. 127(8):1893-7. [QxMD MEDLINE Link].

43. Moskowitz DG, Fowler AJ, Heyman MB, et al. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul. 145(1):82-92. [QxMD MEDLINE Link].

44. Oji V, Beljan G, Beier K, Traupe H, Luger TA. Topical pimecrolimus: a novel therapeutic option for Netherton syndrome. Br J Dermatol. 2005 Nov. 153(5):1067-8. [QxMD MEDLINE Link].

45. Orth DH, Fretzin DF, Abramson V. Collodion baby with transient bilateral upper lid ectropion. Review of ocular manifestations in ichthyosis. Arch Ophthalmol. 1974 Mar. 91(3):206-7. [QxMD MEDLINE Link].

46. Pagliaro JA, White SI. Specific skin lesions occurring in a patient with Hodgkin's lymphoma. Australas J Dermatol. 1999 Feb. 40(1):41-3. [QxMD MEDLINE Link].

47. Patel N, Spencer LA, English JC 3rd, Zirwas MJ. Acquired ichthyosis. J Am Acad Dermatol. 2006 Oct. 55(4):647-56. [QxMD MEDLINE Link].

48. Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May. 70(5):1341-8. [QxMD MEDLINE Link]. [Full Text].

49. Sarici SU, Sahin M, Yurdakök M. Topical N-acetylcysteine treatment in neonatal ichthyosis. Turk J Pediatr. 2003 Jul-Sep. 45(3):245-7. [QxMD MEDLINE Link].

50. Schnur RE, Greenbaum BH, Heymann WR, et al. Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. Am J Med Genet. 1997 Oct 3. 72(1):24-9. [QxMD MEDLINE Link].

51. Schorderet DF, Huber M, Laurini RN, et al. Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene. Prenat Diagn. 1997 May. 17(5):483-6. [QxMD MEDLINE Link].

52. Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004. 5(1):17-29. [QxMD MEDLINE Link].

53. Sun JD, Linden KG. Netherton syndrome: a case report and review of the literature. Int J Dermatol. 2006 Jun. 45(6):693-7. [QxMD MEDLINE Link].

54. Suresh S, Vijayalakshmi R, Indrani S, Lata M. Short foot length: a diagnostic pointer for harlequin ichthyosis. J Ultrasound Med. 2004 Dec. 23(12):1653-7. [QxMD MEDLINE Link].

55. Takechi K, Sekiguchi K, Goto S. [A case of keratitis, ichthyosis, and deafness syndrome with Hutchinson's triad-like symptoms]. Nippon Ganka Gakkai Zasshi. 1999 Apr. 103(4):322-6. [QxMD MEDLINE Link].

56. Thiers BH. The use of topical calcipotriene/calcipotriol in conditions other than plaque-type psoriasis. J Am Acad Dermatol. 1997 Sep. 37(3 Pt 2):S69-71. [QxMD MEDLINE Link].

57. Traboulsi E, Waked N, Megarbane H. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet. 2004 Jun. 25(2):153-6. [QxMD MEDLINE Link].

58. Tsochatzis E, Vassilopoulos D, Deutsch M, Asvesti C, Sevastos N, Archimandritis AJ. Myelodysplastic syndrome presenting as acquired ichthyosis. Eur J Intern Med. 2006 Aug. 17(5):368-9. [QxMD MEDLINE Link].

59. Zhong W, Cui B, Zhang Y, et al. Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. J Hum Genet. 2003. 48(7):390-2. [QxMD MEDLINE Link].

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Steven R Feldman, MD, PhD Professor, Departments of Dermatology, Pathology and Public Health Sciences, and Molecular Medicine and Translational Science, Wake Forest Baptist Health; Director, Center for Dermatology Research, Director of Industry Relations, Department of Dermatology, Wake Forest University School of Medicine

Steven R Feldman, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, North Carolina Medical Society, Society for Investigative Dermatology

Disclosure: Received honoraria from Amgen for consulting; Received honoraria from Abbvie for consulting; Received honoraria from Galderma for speaking and teaching; Received consulting fee from Lilly for consulting; Received ownership interest from www.DrScore.com for management position; Received ownership interest from Causa Reseasrch for management position; Received grant/research funds from Janssen for consulting; Received honoraria from Pfizer for speaking and teaching; Received consulting fee from No.

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Kenneth M Goins, MD Professor of Clinical Ophthalmology, Director of Cornea and External Diseases and Refractive Surgery, Department of Ophthalmology, University of Iowa Hospitals and Clinics; Medical Director of Iowa Lions Eye Bank

Kenneth M Goins, MD is a member of the following medical societies: American Society of Cataract and Refractive Surgery, Eye Bank Association of America, International Society of Refractive Surgery, Iowa Medical Society, American Academy of Ophthalmology, American Medical Association

Disclosure: Nothing to disclose.

Seth Adam Anderson Des Moines University College of Osteopathic Medicine

Disclosure: Nothing to disclose.

Matthew Rauen, MD Fellow in Corneal, External Diseases and Refractive Surgery, Department of Ophthalmology and Visual Sciences, University of Iowa Health Care

Matthew Rauen, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.

Arash Taheri, MD Research Fellow, Center for Dermatology Research, Department of Dermatology, Wake Forest University School of Medicine

Disclosure: Nothing to disclose.

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