A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects

Vol. 29, No. 5, 2017 663 Received June 16, 2016, Revised August 20, 2016, Accepted for publication October 19, 2016 Corresponding author: Ohsang Kwon, Department of Dermatology, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea. Tel: 82-2-2072-2417, Fax: 82-2-742-7344, E-mail: [email protected] This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology thosis, extended rete ridges, and various degrees of hyperkeratosis in the epidermis. The origins of the mucin and the mechanism of its development are not known, but previous studies suggested that mucin formation might increase as a result of fibroblast upregulation. Because the present case showed a decrease in fat composition and an increase in fibrosis in the NLCS lesion over time, it is considered to be an interesting case supporting this correlation. Apart from fibroblast upregulation, external stimulation by constant friction, and coincidental co-occurrence of mucinous nevus and NLCS should be regarded as possible hypotheses, and more cases and study will be needed to better understand the relation between two diseases and mechanism of mucin deposition. The clinical features of the present case were similar to those of soft fibromas or neurofibromas, so histopathological examination and special staining were required for differential diagnosis. In conclusion, we report a rare case of acquired mucinous nevus in NLCS. Our case provides additional support for the hypothesis that mucin deposition may develop in association with fibroblast. CONFLICTS OF INTEREST