Finch Justin, Abrams Stephanie, Finch Amy
Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
The Ohio State University Veterinary Medical Center, Columbus, OH.
Int J Womens Dermatol. 2017 Mar 3;3(3):170-175. doi: 10.1016/j.ijwd.2017.01.003. eCollection 2017 Sep.
Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians. In addition, we will explore how animal diseases serve as a model to uncover the mechanisms of human disease. The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.
遗传性皮肤病涵盖了一个庞大、复杂且不断扩展的领域。认识这些疾病的特征对于准确诊断、开始治疗、考虑遗传咨询以及在疾病可能影响其他领域时将患者转诊给专科医生至关重要。由于遗传性皮肤病可能呈现出各种各样的特征，要记住它们可能会让人感到困惑。本文将解释和描述一些在人类和家畜中都出现的遗传性皮肤病，并为医生提供一种关联和记忆辅助方法。此外，我们将探讨动物疾病如何作为揭示人类疾病机制的模型。我们将回顾的遗传性皮肤病包括人类和家畜中的色素性镶嵌症、斑驳病、白化病、格里塞利综合征、外胚层发育不良、瓦登伯格综合征和黏蛋白沉积症。
