Am J Hum Genet 2006 Oct 25;79(4):724-30. Epub 2006 Aug 25.
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion-Israel Institute of Technology, Haifa, Israel.
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. To decipher the molecular basis of these disorders, we studied one family with DPR and four families with NFJS. We initially reassessed linkage of NFJS/DPR to a previously established locus on 17q11. Read More