Diffuse dry, scaly skin with occasional blisters
Christina Wong MSIV
Melissa Piliang MD
A 28-year-old woman presented with dry scaly skin on the neck, axillae, back, groin, knees, ankles and feet. She occasionally develops blisters and reports a history of blisters shortly after birth.
What is the best diagnosis?
Acantholytic dyskeratosis
Bullous congenital ichthyosiform erythroderma
Epidermodysplasia verruciformis
Myrmecia wart
X-linked ichthyosis
Which mutations are commonly seen with this disorder?
KRT1 & KRT10
PTCH1
STS
TGM1
TMC6 (EVER1) & TMC8 (EVER2)
Gaertner, EM. Incidental cutaneous reaction patterns: epidermolytic hyperkeratosis, acantholytic dyskeratosis, and hailey-hailey-like acantholysis: a potential marker of premalignant skin change. J Skin Cancer. 2011;2011:645743.
Mahaisavariya, P, Cohen, PR, Rapini, RP. Incidental epidermolytic hyperkeratosis. Amer J Dermatopathol. 1995;17(1):23–28.
Vicente, A., et al., High-risk alpha-human papillomavirus types: Detection in HIV-infected children with acquired epidermodysplasia verruciformis. Journal of the American Academy of Dermatology, 2013. 68(2): p. 343-345.
J. Bolognia, J. Jorizzo, R. Rapini, et al., Dermatology, 2nd edition, 2008.
Author Profiles
Christina Wong
University at Buffalo School of Medicine and Biomedical Sciences
Christina Wong is a fourth-year medical student from the University at Buffalo, SUNY. She earned her bachelor’s degree in biological sciences from the University of Rochester. She will receive her medical degree in May 2014. She is looking forward to pursuing a career in dermatology and has an interest in dermatopathology.
Melissa Piliang
Cleveland Clinic
Melissa Piliang, MD, is a staff dermatologist and dermatopathologist at the Cleveland Clinic in Cleveland, Ohio. She received her medical degree from Indiana University and completed both her dermatology residency and dermatopathology fellowship at the Cleveland Clinic. She has been on staff at the Cleveland Clinic since 2006 and focuses on dermatopathology and medical dermatology while actively teaching medical students, residents, and fellows.