Summary
Ectodermal dysplasia-skin fragility syndrome (EDSFS) is a rare genodermatosis. So far, it has been reported in less than 10 patients. Clinically, the disease is characterized by skin fragility, nail dystrophy and hyperkeratosis of the palms and soles. At birth, patients have pink skin with blistering. During the first days of life they develop more severe blistering and desquamation on the face, limbs, and buttocks. Hair is short and sparse, and the nails are thickened and dystrophic. Signs of skin fragility include trauma-induced tearing and blisters, with blistering also occurring on the pressure points of the soles after prolonged standing or walking. The disease has been shown to be due to mutations in the PKP1 gene, localized on 1q32 and encoding plakophilin 1, a critical component of the desmosomal plaque. It is inherited as an autosomal recessive condition. Light microscopy of the skin reveals thickening of the epidermis and extensive widening of keratinocyte intercellular spaces, extending from the first suprabasal layer upward. Electron microscopy revealed that the disadhesion and acantholysis (breakdown of a cell layer) was caused by reduced numbers of small hypoplastic desmosomes (intercellular junctional complexes), and that dyskeratosis was caused by the detachment of intracellular keratin filaments from the desmosomes. EDSFS patients have benefited from the major advances in methods for prenatal testing of inherited skin disorders over the last 25 years. In the absence of a cure, preimplantation genetic diagnosis offers the possibility for accurate diagnosis of the disease after the birth of an index case. *Author: Orphanet (June 2006)*.
