| Literature DB >> 7295550 |
M Pinheiro, L C Pereira, N Freire-Maia.
Abstract
An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.Entities:
Mesh:
Year: 1981 PMID: 7295550 DOI: 10.1111/j.1365-2133.1981.tb00768.x
Source DB: PubMed Journal: Br J Dermatol ISSN: 0007-0963 Impact factor: 9.302