Revisão Produção Nacional Revisado por pares

A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias

1981; Oxford University Press; Volume: 105; Issue: 4 Linguagem: Inglês

10.1111/j.1365-2133.1981.tb00768.x

ISSN

1365-2133

Autores

Marta Pinheiro, L C Pereira, N. Freire‐Maia,

Tópico(s)

Cancer-related Molecular Pathways

Resumo

SUMMARY 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, onychodysplasia, 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 differential diagnosis.

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