Lamellar Ichthyosis Differential Diagnoses

1. Chao K, Aleshin M, Goldstein Z, Worswick S, Hogeling M. Lamellar ichthyosis in a female neonate without a collodion membrane. Dermatol Online J. 2018 Feb 15. 24 (2):[QxMD MEDLINE Link]. [Full Text].

2. Gul Z, Khan GA, Liaqat F, Muqarrab K. A New Born with Lamellar ichthyosis(Collodion Baby). J Coll Physicians Surg Pak. 2015 Aug. 25 (8):621-2. [QxMD MEDLINE Link].

3. National Organization for Rare Disorders (NORD). Lamellar Ichthyosis. National Organization for Rare Disorders (NORD). Available at https://rarediseases.org/rare-diseases/ichthyosis-lamellar/. 2020; Accessed: April 1, 2022.

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

5. 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. [QxMD MEDLINE Link].

6. Paller AS, Renert-Yuval Y, Suprun M, Esaki H, Oliva M, Huynh TN, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2016 Aug 20. [QxMD MEDLINE Link].

7. Briley JJ, Sirota-Rozenberg S. Diagnosis: Lamellar Ichthyosis. Dermatologist. Oct 2008. 16 (10):[Full Text].

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

9. 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. [QxMD MEDLINE Link].

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

11. Takeda M, Nomura T, Sugiyama T, et al. Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis. J Dermatol. 2018 Dec. 45 (12):1463-1467. [QxMD MEDLINE Link].

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

13. Alallasi SR, Kokandi AA, Banagnapali B, et al. Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. Front Pediatr. 2019. 7:44. [QxMD MEDLINE Link]. [Full Text].

14. Sayeb M, Riahi Z, Laroussi N, et al. A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene. Int J Dermatol. 2019 Dec. 58 (12):1439-1443. [QxMD MEDLINE Link].

15. Karim N, Iqbal J, Naeem M. Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family. Ann Dermatol. 2019 Oct. 31 (5):581-584. [QxMD MEDLINE Link]. [Full Text].

16. 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. [QxMD MEDLINE Link].

17. 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. [QxMD MEDLINE Link].

18. Marukian NV, Hu RH, Craiglow BG, et al. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatol. 2017 Jun 1. 153 (6):537-543. [QxMD MEDLINE Link]. [Full Text].

19. Angmo D, Patil B, Agarwal R, Mohanty K, Singh A. A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature. J Glaucoma. 2016 Mar. 25 (3):e280-3. [QxMD MEDLINE Link].

20. 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. [QxMD MEDLINE Link].

21. Damsky WE, Leventhal JS, Khalil D, Vesely MD, Craiglow BG, Milstone LM, et al. Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis. Pediatr Dermatol. 2016 Mar-Apr. 33 (2):e140-2. [QxMD MEDLINE Link].

22. Osório F, Leão M, Azevedo F, Magina S. Lamellar ichthyosis due to ALOX12B mutation. Actas Dermosifiliogr. 2013 Jun. 104 (5):443-4. [QxMD MEDLINE Link].

23. 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. [QxMD MEDLINE Link].

24. Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr. 2013 May. 104 (4):270-84. [QxMD MEDLINE Link].

25. 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].

26. 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. [QxMD MEDLINE Link].

27. [Guideline] Zaenglein AL, Levy ML, Stefanko NS, et al. Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatr Dermatol. 2021 Jan. 38 (1):164-180. [QxMD MEDLINE Link]. [Full Text].

28. Tirant M, Bayer P, Hercogovấ J, Fioranelli M, Gianfaldoni S, Chokoeva AA, et al. Treatment of ichthyosis lamellaris using a series of herbal skin care products family. J Biol Regul Homeost Agents. 2016 Apr-Jun. 30 (2 Suppl 3):65-72. [QxMD MEDLINE Link].

29. 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. [QxMD MEDLINE Link].

30. 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. [QxMD MEDLINE Link].

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

32. 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. [QxMD MEDLINE Link].

33. 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. [QxMD MEDLINE Link].

34. 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. [QxMD MEDLINE Link].

35. Kim MR, Oji V, Valentin F, et al. Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling. Acta Derm Venereol. 2021 Sep 15. 101 (9):adv00546. [QxMD MEDLINE Link]. [Full Text].

36. 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. [QxMD MEDLINE Link].

37. 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. [QxMD MEDLINE Link].

38. 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. [QxMD MEDLINE Link].

39. 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. [QxMD MEDLINE Link].

40. 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.

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

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

Chris G Adigun, MD, FAAD Director and Physician, Dermatology and Laser Center of Chapel Hill; Senior Medical Advisor, Klara

Chris G Adigun, MD, FAAD is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, Council for Nail Disorders, North Carolina Dermatology Association, North Carolina Medical Society

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Amgen; Sciton; OrthoDermatologics; Lumenis; DermTech; PhotonMD; Galderma<br/>Received income in an amount equal to or greater than $250 from: Amgen; Lumenis; DermTech; Galderma.

Omobola Onikoyi, DO, MSc American Osteopathic Association (AOA) Internship, Manchester Memorial Hospital, Eastern Connecticut Health Network

Omobola Onikoyi, DO, MSc is a member of the following medical societies: American Osteopathic College of Dermatology, American Vitiligo Research Foundation, Council for Nail Disorders, Medical Dermatology Society, National Psoriasis Foundation, North American Hair Research Society, Wound Healing Society

Disclosure: Nothing to disclose.

David F Butler, MD Former 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: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

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.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

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

Disclosure: Nothing to disclose.

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.

Jeffrey Meffert, MD † Former 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.

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.

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