A 16-year-old female had noticed scattered brown patches on her limbs, beginning during infancy. These skin eruptions gradually extended to face, trunk and limbs, and they then became reddish after exercise. She visited a dermatology clinic at the age of 13 years and received a laser treatment, resulting in no clear effect At her first visit to our hospital a physical examination revealed linear and macular atrophic lesions with hypo- and hyper-pigmentation, verrucous papules and telangiectasia on her face, trunk and limbs. Some of the lesions on her limbs followed the lines of Blaschko. Biopsy specimens obtained from atrophic lesions on her forearm showed subcutaneous fat tissue protruding into the upper dermis. Based on these findings, we diagnosed this patient as having Goltz syndrome (focal dermal hypoplasia), which is recognized as an ectomesodermal hypoplasia.
All Science Journal Classification (ASJC) codes