Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) Questions & Answers

1. Rice AS, Crane JS. Epidermolytic Hyperkeratosis. Stat Pearls [Internet]. 2021 Jan. [QxMD MEDLINE Link]. [Full Text].

2. Chia SY, Tan EC, Wei H, Zhao Y, Koh MJA. Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant. Eur J Med Genet. 2021 Nov. 64 (11):104324. [QxMD MEDLINE Link].

3. 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].

4. Math A, Frank J, Handisurya A, et al. Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. Eur J Dermatol. 2006 Sep-Oct. 16(5):507-10. [QxMD MEDLINE Link].

5. McGowan KA, Aradhya S, Fuchs H, de Angelis MH, Barsh GS. A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. J Invest Dermatol. 2006 May. 126(5):1013-6. [QxMD MEDLINE Link].

6. Muller FB, Huber M, Kinaciyan T, et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet. 2006 Apr 1. 15(7):1133-41. [QxMD MEDLINE Link].

7. Betlloch I, Lucas Costa A, Mataix J, Pérez-Crespo M, Ballester I. Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. Pediatr Dermatol. 2009 Jul-Aug. 26(4):489-91. [QxMD MEDLINE Link].

8. Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011 Apr 15. 508(2):123-37. [QxMD MEDLINE Link]. [Full Text].

9. Morais P, Mota A, Baudrier T, et al. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. Eur J Dermatol. 2009 Jul-Aug. 19(4):333-6. [QxMD MEDLINE Link].

10. Chassaing N, Kanitakis J, Sportich S, et al. Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. J Invest Dermatol. 2006 Dec. 126(12):2715-7. [QxMD MEDLINE Link].

11. Akhyani M, Kiavash K, Kamyab K. Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. Int J Dermatol. 2009 Feb. 48(2):215-7. [QxMD MEDLINE Link].

12. Terheyden P, Grimberg G, Hausser I, et al. Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. J Invest Dermatol. 2009 Nov. 129(11):2721-3. [QxMD MEDLINE Link].

13. Tsubota A, Akiyama M, Kanitakis J, et al. Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. J Invest Dermatol. 2008 Jul. 128(7):1648-52. [QxMD MEDLINE Link].

14. el-Khateeb EA. Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. Pediatr Dermatol. 2008 Mar-Apr. 25(2):279-82. [QxMD MEDLINE Link].

15. Bhat YJ, Baba AN, Manzoor S, Qayoom S, Ahmed SM. Bullous icthyosiform erythroderma with rickets in child of a parent with naevus unius lateralis. Indian J Dermatol Venereol Leprol. 2010 Mar-Apr. 76(2):192-4. [QxMD MEDLINE Link].

16. Blalock TW, Teague D, Sheehan DJ. Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. Cutis. 2011 Jun. 87(6):278-80. [QxMD MEDLINE Link].

17. Russell P, Valmadre S, Howard V. Localised epidermolytic hyperkeratosis of the vulva: a case of mistaken identity. Pathology. 2010. 42(5):483-5. [QxMD MEDLINE Link].

18. Bergman R, Khamaysi Z, Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol. 2008 Apr. 30(2):101-5. [QxMD MEDLINE Link].

19. 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. [QxMD MEDLINE Link]. [Full Text].

20. Rothnagel JA, Lin MT, Longley MA, et al. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. Prenat Diagn. 1998 Aug. 18(8):826-30. [QxMD MEDLINE Link].

21. Li H, Torma H. Retinoids reduce formation of keratin aggregates in heat-stressed immortalized keratinocytes from an epidermolytic ichthyosis patient with a KRT10 mutation*. Acta Derm Venereol. 2013 Jan. 93(1):44-9. [QxMD MEDLINE Link].

22. Digiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR. Systemic retinoids in the management of ichthyoses and related skin types. Dermatol Ther. 2013 Jan-Feb. 26 (1):26-38. [QxMD MEDLINE Link].

Brittany G Craiglow, MD Assistant Professor of Dermatology and Pediatrics, Yale University School of Medicine

Disclosure: Nothing to disclose.

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

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

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

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.

Marjan Garmyn, MD, PhD Professor, Faculty of Medicine, Katholieke Universiteit Leuven, Belgium; Chair and Adjunct Head, Department of Dermatology, University of Leuven, Belgium

Disclosure: Nothing to disclose.

Tina S Chen Twu, MD Pediatric Dermatologist/Dermatologist, Sharp Rees-Stealy Medical Group, San Diego, CA

Tina S Chen Twu, MD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Brandie J Metz, MD Assistant Clinical Professor of Dermatology and Pediatrics, Chief of Pediatric Dermatology, University of California, Irvine, School of Medicine

Brandie J Metz, MD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

Jeffrey B Smith, MD Mohs Surgery, Kaiser Permanente, San Jose, CA

Jeffrey B Smith, MD is a member of the following medical societies: American Academy of Dermatology and American College of Mohs Surgery

Disclosure: Nothing to disclose.

Sidney B Smith, MD Medical Director, Dermatologist, Dermatology, Dermacare Laser and Skin Care Clinics of Tri-Cities

Sidney B Smith, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article