focal dermal hypoplasia/インコアナナス

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with

A 14 year old girl was seen in the clinic with a huge vulvar wart, and warts on both tonsils. She also had poikiloderma. She had bony abnormalities, which included lobster claw abnormality of the right foot, a right cervical rib, and the right clavicle was lower than the left. There were fine

Focal dermal hypoplasia (Goltz syndrome) is a rare congenital dysplasia of the mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCNgene mapped on Xp11.23. The condition is characterized by cutaneous lesions distributed in linear areas associated

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

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. METHODS a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial

A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had