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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

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