RESUMO
Nails are cutaneous appendages mostly involved in mechanical functions. However, nails may reflect presence of various systemic disorders evidenced by alteration of their shape, size, color or texture. Genodermatoses are multisystem disorders with cutaneous involvement. Many of the genodermatoses present with nail changes and some of these may be the clinical pointers to the diagnosis. Diagnostic clues to various genodermatoses derived from nail findings have been discussed.
Assuntos
Síndrome da Unha-Patela/diagnóstico , Paquioníquia Congênita/diagnóstico , Dermatopatias/diagnóstico , Síndrome das Unhas Amareladas/diagnóstico , HumanosAssuntos
Paquioníquia Congênita/diagnóstico , Paquioníquia Congênita/tratamento farmacológico , Pré-Escolar , Esmalte Dentário/efeitos dos fármacos , Esmalte Dentário/patologia , Fluconazol/farmacologia , Fluconazol/uso terapêutico , Humanos , Masculino , Unhas Malformadas/diagnóstico , Unhas Malformadas/tratamento farmacológicoRESUMO
A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings included scalp kinky hair and dental caries. Past medical and family history had remarkable findings such as natal teeth and similar skin lesions in her older brother since his infancy. The patients' clinical presentations and history are compatible with pachyonychia congenita presenting with concomitant features of both subtypes 1 and 2.