Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review

摘要

Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. We report a case of unilateral FDH or Goltz syndrome in a 16-year-old girl presenting with hypopigmented-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm. Also she is having hypoplasia of the right breast with dental enamel abnormality and partial anodontia in the lower jaw. Sparse hair and partial alopecia on the right side (scalp, eyebrows, and eyelashes) were also observed.