ETIOLOGY:

 germ-line mutations

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

DIFFERENTIAL:

 epidermolytic acanthoma
 warts (especially of the palmoplantar type), epidermal nevi, bullous ichthyosiform erythroderma, ichthyosis hystrix, keratoderma palmaris et plantaris, nevus unis lateris, ..., and in tumors such as infundibular cysts, seborrheic keratosis, and actinic keratosis

See also

 keratins (KRTs) and 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#