A Rare Case of Epidermolytic Hyperkeratosis: Recognition of Distinctive Clinical and Histopathological Signs

Sarah Mahri, Lidwina Anissa, Rinadewi Astriningrum, Githa Rahmayunita, Triana Agustin, Rahadi Rihatmadja

2019

Abstract

Epidermolytic hyperkeratosis (EHK) is a rare autosomal dominant genodermatosis with a prevalence of 1:100,000 to 1:300,000. Mutations primarily of keratin 1 or keratin 10 cause defective keratinization, leading to skin fragility, blistering, and hyperkeratosis. Neonates with EHK are at risk of developing electrolyte imbalance, sepsis and malnutrition leading to a considerable mortality. Therefore its diagnosis is important. As the clinical features of EHK become more apparent with age, a wide spectrum of other genodermatosis should be considered as differentials at different stages of the disease process. A 5-year-old boy presented to our department withdirty brown, corrugated plaques distributed all over his body. He had had history of trauma-related blistering since two days after birth. As he aged, there wasa decrease in development of blisters and erosions, with accompanying increase inseverity of hyperkeratosis andfoul odor. Physical examination revealed thickened, brown plaques over the neck, trunk, extremities, and scalp. Cobblestone pattern were visible over the knees, elbows, and posterior of hands and feet, in addition to multiple superficial erosions. Histopathologic examination showed massive hyperkeratosis, acanthosis, spongiosis, lysis and clumping of keratinocytes in the stratum spinosum to granulosum.The diagnosis of EHK was made. Vaseline, coconut oil, and antiseptic soapgave slight, but acceptable improvement. EHK is rare, thus recognizing its distinctive clinical patterns is necessary to avoid delayed diagnosis and gave necessary genetic counselling and prompt treatment.

Paper Citation

in Harvard Style

Mahri S., Anissa L., Astriningrum R., Rahmayunita G., Agustin T. and Rihatmadja R. (2019). A Rare Case of Epidermolytic Hyperkeratosis: Recognition of Distinctive Clinical and Histopathological Signs.In Proceedings of the 2nd International Conference on Tropical Medicine and Infectious Disease - Volume 1: ICTROMI, ISBN 978-989-758-469-5, pages 257-261. DOI: 10.5220/0009985902570261

in Bibtex Style

@conference{ictromi19,
author={Sarah Mahri and Lidwina Anissa and Rinadewi Astriningrum and Githa Rahmayunita and Triana Agustin and Rahadi Rihatmadja},
title={A Rare Case of Epidermolytic Hyperkeratosis: Recognition of Distinctive Clinical and Histopathological Signs},
booktitle={Proceedings of the 2nd International Conference on Tropical Medicine and Infectious Disease - Volume 1: ICTROMI,},
year={2019},
pages={257-261},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0009985902570261},
isbn={978-989-758-469-5},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 2nd International Conference on Tropical Medicine and Infectious Disease - Volume 1: ICTROMI,
TI - A Rare Case of Epidermolytic Hyperkeratosis: Recognition of Distinctive Clinical and Histopathological Signs
SN - 978-989-758-469-5
AU - Mahri S.
AU - Anissa L.
AU - Astriningrum R.
AU - Rahmayunita G.
AU - Agustin T.
AU - Rihatmadja R.
PY - 2019
SP - 257
EP - 261
DO - 10.5220/0009985902570261