X-vázaně dominantní
Caused by changes in the PORCN gene on the X chromosome, which is needed to release Wnt signalling proteins that guide development. Most cases arise de novo; affected males usually carry the change in only some of their cells.
Příznaky a projevy
Streaks of thin or missing skin following a pattern of lines (Blaschko lines) present at birth, often with fatty deposits beneath the skin and changes in skin colour. Hand and foot differences such as split-hand or fused fingers, and eye differences such as coloboma or small eyes, are common, as are tooth enamel differences. Less often there are nail differences, papillomas around the mouth and anus, hair loss and skeletal features.
Co se diagnózou změní
Care from dermatology, eye, dental and hand specialists, with removal of papillomas and treatment of skin problems as needed. Most cases are de novo, but a mother can carry the change, sometimes in only some of her cells, so genetic counselling and parental testing guide recurrence risk.
Analyzované geny
Známé také jako
DHOF; FDH; focal dermal hypoplasia, X-linked dominant; Goltz Gorlin syndrome; Goltz syndrome
