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2020, Number 3

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Rev Cub Gen 2020; 13 (3)

Proteus Syndrome. A case report

Santana HEE, Pérez TY, Peña HAD

Language: Spanish
References: 11
Page: 1-12
PDF size: 606.10 Kb.


ABSTRACT

Introduction: Proteus syndrome, a rare genetic disease, with isolated appearance in all regions. It is characterized by an overgrowth of a region of the body, which can include bones and soft parts, with a preference for hands and feet. This may be accompanied by pigmented linear nevus, lymphangiomas, and deforming hamartomatous tumors that change over time.
Objective: Describe the representative characteristics of a patient with this very rare syndrome using the clinical method.
Case presentation: We present a 5-year-old girl with hypertrophy of the right hemibody, accompanied by extensive pigmented linear nevus, with deforming tumors in different regions including hands and feet.
Conclusions: Due to its rarity, it is difficult to define it clinically, considering it necessary to discuss these cases by a multidisciplinary team to reach the diagnosis after the correct delineation of the phenotype through the clinical method. The use of this instrument is essential to achieve a timely clinical diagnosis and adequate genetic counseling, allowing to guide the follow-up to improve the quality of life of patients.


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