Focal Dermal Hypoplasia eMedicine

Description: Focal Dermal Hypoplasia Syndrome Last Updated: February 16, 2006 Author: Wendy Lee, MD, Assistant Professor of Dermatology, Department of Dermatology, Uniformed Services University of Health Sciences Coauthor(s): Robert W Goltz, MD, Clinical Professor, Department of Internal Medicine, Section of Dermatology, University of California at San Diego Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The mnemonic FOCAL can be used to remember some of the key features of this syndrome: female sex; osteopathia striata; coloboma; absent ectodermis-, mesodermis-, and neurodermis-derived elements; and lobster claw deformity. FDH is also known as Goltz syndrome or Goltz-Gorlin syndrome. These eponyms should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is basal cell nevus syndrome. FDH is identified as entry 305600 in the Online Mendelian Inheritance of Man database. Affected individuals are often recognized at birth or occasionally prenatally, but cases involving a minor expression of the syndrome may be diagnosed later in life. The name focal dermal hypoplasia is somewhat of a misnomer because the skin lesions appear to evolve as accumulations of fat rather than hypoplasia of the dermis.