Focal Dermal Hypoplasia with Exuberant Fat Herniations and Skeletal Deformities

Abstract:  Focal dermal hypoplasia or Goltz syndrome is a rare congenital and mesoectodermal dysplasia with multisystemic involvement. Although the genetic alterations responsible for focal dermal hypoplasia are not fully known, there is predominance in affected females, suggesting dominant X‐linked inheritance. Besides the skin, other structures frequently involved are the skeletal system, eyes, teeth, hair, and nails. Skeletal abnormalities are predominantly observed in the hands and feet. We report a 9‐year‐old girl who had typical linear skin atrophy on the trunk, exuberant “fat herniations,” several skeletal abnormalities, and exuberant “lobster claw” deformity. In addition, she had the typical longitudinal striations in femur metaphyses. With regard to family history, her mother had one male stillbirth with several deformities. This typical focal dermal hypoplasia patient is considered valuable in light of the affected male stillbirth and parents with nonaffected phenotypes that together provides evidence for mother‐to‐daughter spontaneous transmission.