Table of ContentsDefinition / general | Terminology | Case reports | Clinical images | Gross images | Microscopic (histologic) images
Cite this page: Thakral, C. Focal dermal hypoplasia. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/oralcavityfocaldermalhyperplasia.html. Accessed October 17th, 2018.
Definition / general
- X linked dominant trait associated with PORCN gene mutations on X chromosome
- Characterized by Blaschko linear streaks of skin with markedly thinned dermis (and adipose tissue abutting the epidermis) together with ocular, dental and skeletal abnormalities, including osteopathia striata (fine linear striations of 2 - 3 mm, visible by radiographic examination, in metaphyses and diaphyses of long or flat bones)
- Associated with multiple oral papillomas of lips and other oral mucosal sites
- Also associated with skin hypoplasia and associated ulcers, fatty herniation, bilateral syndactyly with "lobster claw" deformity, iris and choroid colobomas, strabismus
- Also known as Goltz-Gorlin syndrome