[Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)].
Focal dermal hypoplasia (Goltz's syndrome, Goltz-Gorlin syndrome), an uncommon malady belonging to the group of congenital poikloderma, is characterized by its broad spectrum of meso-ectodermal defects involving the skin as well as the eyes, skeletal system and teeth. The case represented her is identical with the one published by Naegeli 1926, and contains some additional findings that have not yet been reported, namely: multiple hidrocystomas, bilateral keratoconus, papillomatosis of esophagus, hiatus hernia.
D000015:Abnormalities, Multiple / Q000473:pathology; D001284:Atrophy; D004938:Esophageal Neoplasms / Q000473:pathology; D005260:Female; D006551:Hernia, Hiatal / Q000473:pathology; D006801:Humans; D007640:Keratoconus / Q000473:pathology; D008875:Middle Aged; D010212:Papilloma / Q000473:pathology; D010859:Pigmentation Disorders / Q000151:congenital* / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital / Q000473:pathology; D013544:Sweat Gland Neoplasms / Q000473:pathology; D013577:Syndrome
Fokale dermale Hypoplasie mit Keratokonus, Osophaguspapillomen und Hidrokystomen