Lamellar Ichthyosis Differential Diagnoses

  • Author: Heather Kiraly Orkwis; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 24, 2012
 
 

Differential Diagnoses

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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)

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, and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD  Assistant 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, and Texas Dermatological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and Canadian Dermatology Association

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

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

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE  Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

References

  1. Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Experimental Dermatology [serial online]. March 13, 2008;17:373-382. Available from: Medline. Accessed January 17, 2009. [Medline]. Available at http://onlinelibrary.wiley.com/doi/10.1111/j.1600-0625.2007.00691.x/pdf.

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

  3. 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. Feb 2007;127(2):490-3. [Medline].

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

  5. 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. Nov 21 2011;[Medline].

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

  7. 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. Oct 13 2011;[Medline].

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

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

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

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

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

  13. 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. May 1995;131(5):556-60. [Medline].

  14. 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].

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

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

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

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

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

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

  21. Sybert VP. Lamellar Ichthyosis. In: Sybert VP, ed. Genetic Skin Disorders. 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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