Luna CEJ, Perdomo AJC, Sainz PL, Sainz PL

Language: Spanish
References: 11
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ABSTRACT

Introduction: Hypomelanosis of Ito is a genetic neurocutaneous syndrome of sporadic presentation characterized by hypopigmented skin lesions and extracutaneous manifestations mainly involving the central nervous system. Pachyonychia congenita is a genetic disorder characterized by onychodystrophy and autosomal dominant inheritance.
Objective: Contribute to the comprehensive genetic counseling of a patient with association of hypomelanosis of Ito and pachyonychia congenita.
Case presentation: A male adult patient presents with hypopigmentation of his hair and skin, as well as onychodystrophy, also present in several members of his family. This patient, therefore, suffers from two associated genetic conditions.
Conclusion: It is of medical interest to demonstrate the presence of these associated genetic alterations in one and the same patient with a view to providing proper genetic counseling in the community, since no reference is made to them in published reports.

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