Case Report: A Case of Full Expressivity Piebaldism

Itrida Hadianti, Prasta Bayu Putra, Sekar Sari Arum Palupi, Hanggoro Rinonce, Irianiwati, Hardyanto Soebono, Sunardi Radiono

2018

Abstract

Piebaldism is a rare inherited disease with a spesific clinical manifestation. Here with, we reported a case of piebaldism in a 17-year-old boy with the feature of a severe phenotype (full expressivity). White forelock, poliosis, and depigmented patch observed on midline forehead and neck along with ventral and lateral trunk, mid-arms, thighs, knees, and the lower leg area were found. Hyperpigmented macule between depigmented lesions were found in all the lesions. The patient was a new mutant since his both parents were normal. The diagnosis was established based on clinical appearance, histopathological examination, and immunohistochemistry staining with S100, HMB45, and Fontana-Masson.

Paper Citation

in Harvard Style

Hadianti I., Putra P., Palupi S., Rinonce H., Irianiwati., Soebono H. and Radiono S. (2018). Case Report: A Case of Full Expressivity Piebaldism.In Proceedings of the 23rd Regional Conference of Dermatology - Volume 1: RCD, ISBN 978-989-758-494-7, pages 473-476. DOI: 10.5220/0008160004730476

in Bibtex Style

@conference{rcd18,
author={Itrida Hadianti and Prasta Bayu Putra and Sekar Sari Arum Palupi and Hanggoro Rinonce and Irianiwati and Hardyanto Soebono and Sunardi Radiono},
title={Case Report: A Case of Full Expressivity Piebaldism},
booktitle={Proceedings of the 23rd Regional Conference of Dermatology - Volume 1: RCD,},
year={2018},
pages={473-476},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0008160004730476},
isbn={978-989-758-494-7},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 23rd Regional Conference of Dermatology - Volume 1: RCD,
TI - Case Report: A Case of Full Expressivity Piebaldism
SN - 978-989-758-494-7
AU - Hadianti I.
AU - Putra P.
AU - Palupi S.
AU - Rinonce H.
AU - Irianiwati.
AU - Soebono H.
AU - Radiono S.
PY - 2018
SP - 473
EP - 476
DO - 10.5220/0008160004730476