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Lamellar Ichthyosis Differential Diagnoses

  • Author: Heather Kiraly Orkwis; Chief Editor: William D James, MD  more...
 
Updated: Sep 22, 2014
 
 
 
Contributor Information and Disclosures
Author

Heather Kiraly Orkwis Philadelphia College of Osteopathic Medicine

Heather Kiraly Orkwis is a member of the following medical societies: Society for Academic Emergency Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Jeffrey Meffert, MD Associate Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Theresa Dressler Conologue, DO, FAAD Physician, Department of Dermatology, Geisinger Medical Center

Theresa Dressler Conologue, DO, FAAD is a member of the following medical societies: American Academy of Cosmetic Surgery, American Academy of Dermatology, American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Daniel J Hogan, MD Clinical Professor of Internal Medicine (Dermatology), Nova Southeastern University College of Osteopathic Medicine; Investigator, Hill Top Research, Florida Research Center

Daniel J Hogan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Contact Dermatitis Society, Canadian Dermatology Association

Disclosure: Nothing to disclose.

References
  1. Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, et al. Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature. Clin Exp Dermatol. 2014 Aug 22. [Medline].

  2. Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Experimental Dermatology. March 13, 2008. 17:373-382. [Medline]. [Full Text].

  3. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006 Jul-Aug. 16(4):349-59. [Medline].

  4. Scheers C, Andre J, Thompson C, Rebuffat E, Harag S, Kolivras A. Refractory Trichophyton rubrum infection in lamellar ichthyosis. Pediatr Dermatol. 2013. 30(6):e200-3. [Medline].

  5. Arita K, Jacyk WK, Wessagowit V, et al. The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol. 2007 Feb. 127(2):490-3. [Medline].

  6. Jacyk WK. Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. Eur J Dermatol. 2005 Nov-Dec. 15(6):433-6. [Medline].

  7. Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol. 2011 Nov 21. [Medline].

  8. Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 1995 Jan 27. 267(5197):525-8. [Medline].

  9. Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, et al. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain. J Am Acad Dermatol. 2011 Oct 13. [Medline].

  10. Sandler B, Hashimoto K. Collodion baby and lamellar ichthyosis. J Cutan Pathol. 1998 Feb. 25(2):116-21. [Medline].

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

  12. Ganemo A, Virtanen M, Vahlquist A. Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulations. Br J Dermatol. 1999 Dec. 141(6):1027-32. [Medline].

  13. Davila-Seijo P, Flórez A, Davila-Pousa C, No N, Ferreira C, De la Torre C. Topical N-acetylcysteine for the treatment of lamellar ichthyosis: an improved formula. Pediatr Dermatol. 2014 May-Jun. 31(3):395-7. [Medline].

  14. Redondo P, Bauza A. Topical N-acetylcysteine for lamellar ichthyosis. Lancet. 1999 Nov 27. 354(9193):1880. [Medline].

  15. Bassotti A, Moreno S, Criado E. Successful treatment with topical N-acetylcysteine in urea in five children with congenital lamellar ichthyosis. Pediatr Dermatol. 2011 Jul-Aug. 28(4):451-5. [Medline].

  16. Stege H, Hofmann B, Ruzicka T, Lehmann P. Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis. Arch Dermatol. 1998 May. 134(5):640. [Medline].

  17. Kragballe K, Steijlen PM, Ibsen HH, et al. Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right/left comparative study. Arch Dermatol. 1995 May. 131(5):556-60. [Medline].

  18. Vahlquist A, Blockhuys S, Steijlen P, van Rossem K, Didona B, Blanco D, et al. Oral liarozole in the treatment of patients with moderate/severe lamellar ichthyosis: results of a randomized, double-blind, multinational, placebo-controlled phase II/III trial. Br J Dermatol. 2014 Jan. 170(1):173-81. [Medline].

  19. Abdel-Magid EH, el-Awad Ahmed FR. Salicylate intoxication in an infant with ichthyosis transmitted through skin ointment--a case report. Pediatrics. 1994 Dec. 94(6 Pt 1):939-40. [Medline].

  20. Ramirez ME, Youseef WF, Romero RG, et al. Acute percutaneous lactic acid poisoning in a child. Pediatr Dermatol. 2006 May-Jun. 23(3):282-5. [Medline].

  21. Allen DM, Esterly NB. Significant systemic absorption of tacrolimus after topical application in a patient with lamellar ichthyosis. Arch Dermatol. 2002 Sep. 138(9):1259-60. [Medline].

  22. Basgul AY, Kavak ZN, Guducu N, Durukan B, Isci H. Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography. Clin Exp Obstet Gynecol. 2011. 38(3):283-5. [Medline].

  23. DiGiovanna JJ. Ichthyosiform Dermatoses. Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB, eds. Fitzpatrick's Dermatology in General Medicine. 5th ed. New York, NY: McGraw-Hill; 1999. Vol 1: 587-8.

  24. Novice FM, Collison DW, Burgdorf WHC, Esterly N, eds. Lamellar ichthyosis. Handbook of Genetic Skin Disorders. Philadelphia, Pa: WB Saunders; 1994. 9-12.

  25. Spitz JL. Lamellar ichthyosis. Spitz JL, ed. Genodermatoses. Baltimore, Md: Williams & Wilkins; 1996. 8-9.

  26. Sybert VP. Lamellar Ichthyosis. Sybert VP, ed. Genetic Skin Disorders. 1st ed. New York, NY: Oxford University Press; 1997. 27-30.

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Collodion baby with translucent membrane of the body.
Keratoderma of the palms in a patient with lamellar ichthyosis. Courtesy of Dirk Elston, MD.
Inflexible fingers due to taut skin in a young patient with lamellar ichthyosis. Courtesy of Dirk Elston, MD.
Nail dystrophy and inflammation of the nail folds. Courtesy of M. Bryan, MD.
 
 
 
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