Ectodermal Dysplasia Skin Fragility Syndrome OMIM

Description: McGrath et al. (1997, 1999) described a boy with a unique skin disorder comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails, and sweat glands. The proband reported by McGrath et al. (1997) was a 6-year-old boy with unrelated parents. There was no family history of skin blistering or other significant abnormalities. At birth, all of his skin was lobster pink, with blistering on the soles. Over the first 48 hours, he developed more severe blistering and desquamation on his face, limbs, and buttocks. His hair was noted to be short and sparse, and his nails were thickened and dystrophic. Subsequently, his skin continued to show fragility, with trauma-induced tearing and blisters on the pressure points of the soles after prolonged standing or walking. aka McGrath Syndrome