Oral cavity
Other benign tumors / conditions
Focal dermal hypoplasia

Author: Charu Thakral, M.D. (see Authors page)

Revised: 19 April 2018, last major update May 2013

Copyright: (c) 2002-2018, PathologyOutlines.com, Inc.

PubMed Search: Focal dermal hypoplasia oral

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
Terminology
  • Also known as Goltz-Gorlin syndrome
Case reports
Clinical images

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Irregular spacing of teeth

Delayed eruption

Absence of lingual frenulum

9 year old boy

14 year old girl

Gross images

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Papilloma masses

Microscopic (histologic) images

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Osteopathia striata