Humpath.com - Human pathology

Home > E. Pathology by systems > Skin > epidermolytic hyperkeratosis

epidermolytic hyperkeratosis

MIM.113800

Thursday 18 March 2004

bullous ichthyosis; bullous congenital ichthyosiform erythroderma

Images

 7 day old baby. erythrodermia and bullous lesions.

Etiology

 germ-line mutations

  • in the keratin-1 gene (KRT1 )
  • in the keratin-10 gene (KRT10 )

Differential diagnosis

 epidermolytic acanthoma
 warts (especially of the palmoplantar type )
 epidermal nevi
 bullous ichthyosiform erythroderma
 ichthyosis hystrix
 keratoderma palmaris et plantaris
 nevus unis lateris
 in tumors such as:

See also

 keratins (KRTs )
 keratinopathies

References

 Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES. Arginine in the beginning of the 1A rod domain of the keratin-10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. J Dermatol Sci. 1999 Feb;19(2):126-33. PMID: 10098704

 Fuchs E, Coulombe P, Cheng J, Chan YM, Hutton E, Syder A, Degenstein L, Yu QC, Letai A, Vassar R. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Nov;103(5 Suppl):25S-30S. PMID: 7525738

Portfolio

[an error occurred while processing this directive]