Cutis Laxa associada à insuficiência cardíaca congestiva

Abstract

Objective

To draw attention to a rare and potentially lethal childhood pathology characterized by premature aging of the skin. Methods: We present a case of cutis laxa - syndrome of premature aging - in an eight-year-old boy, and discuss the classification, diagnosis and prognosis of the disease. Results: The child presented signs of premature aging when he was four years old. Skin biopsy confirmed the diagnosis of cutis laxa. The patient presented heart failure and a systemic complication that differed from those previously described in literature, and died at eight years of age. Conclusions: The importance of the diagnosis of cutis laxa resides in the fact that, besides characteristic dermatological findings, there are frequent systemic complications that can be the focus of preventive measures, since there is no specific treatment for this disease. Genetic counseling is another important issue in this condition.

Methods

We present a case of cutis laxa - syndrome of premature aging - in an eight-year-old boy, and discuss the classification, diagnosis and prognosis of the disease. Results: The child presented signs of premature aging when he was four years old. Skin biopsy confirmed the diagnosis of cutis laxa. The patient presented heart failure and a systemic complication that differed from those previously described in literature, and died at eight years of age. Conclusions: The importance of the diagnosis of cutis laxa resides in the fact that, besides characteristic dermatological findings, there are frequent systemic complications that can be the focus of preventive measures, since there is no specific treatment for this disease. Genetic counseling is another important issue in this condition.

Results

The child presented signs of premature aging when he was four years old. Skin biopsy confirmed the diagnosis of cutis laxa. The patient presented heart failure and a systemic complication that differed from those previously described in literature, and died at eight years of age. Conclusions: The importance of the diagnosis of cutis laxa resides in the fact that, besides characteristic dermatological findings, there are frequent systemic complications that can be the focus of preventive measures, since there is no specific treatment for this disease. Genetic counseling is another important issue in this condition.

Conclusions

The importance of the diagnosis of cutis laxa resides in the fact that, besides characteristic dermatological findings, there are frequent systemic complications that can be the focus of preventive measures, since there is no specific treatment for this disease. Genetic counseling is another important issue in this condition.

Resumen

Objetivo

Chamar a atenção para uma doença rara da infância que se apresenta como envelhecimento precoce e pode ser letal.

Métodos

Os autores relatam um caso de cutis laxa, uma síndrome de envelhecimento precoce, em uma criança de oito anos de idade e discutem sobre a classificação da doença, diagnóstico e prognóstico.

Evolução do caso

A criança apresentou sinais de envelhecimento aos quatro anos. O diagnóstico de cutis laxa foi confirmado pela biópsia de pele. Apresentou insuficiência cardíaca congestiva, uma complicação sistêmica diferente das descritas em trabalhos anteriores, evoluindo para o óbito aos oito anos.

Conclusões

A importância do diagnóstico de cutis laxa reside no fato de que, além do quadro dermatológico característico, há freqüentes complicações sistêmicas que podem ser alvo de uma atuação preventiva, uma vez que não existe tratamento específico para a doença. O aconselhamento genético é também importante nesta condição.