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Published on: May 31, 2024
[Cutis laxa associated to cardiac failure]
M F Siqueira1, P A Ministério, E R Valadares
1Santa Casa de Belo Horizonte, Belo Horizonte, MG, Brazil.
Insights
Cutis laxa, a rare childhood disease causing premature skin aging, can be lethal. Early diagnosis is crucial for managing systemic complications and genetic counseling, as no specific treatment exists.
Area of Science:
- Pediatrics
- Dermatology
- Genetics
Background:
- Cutis laxa is a rare connective tissue disorder characterized by premature aging of the skin.
- It can present with significant systemic complications and has a potentially lethal outcome.
Purpose of the Study:
- To highlight a rare pediatric case of cutis laxa.
- To discuss the classification, diagnosis, and prognosis of this premature aging syndrome.
Main Methods:
- Case presentation of an eight-year-old child diagnosed with cutis laxa.
- Confirmation of diagnosis through skin biopsy.
- Review of disease classification, diagnostic criteria, and prognostic factors.
Main Results:
- The patient exhibited signs of premature aging from age four.
- Cutis laxa diagnosis was histopathologically confirmed.
- The child developed heart failure, a previously undescribed systemic complication, and succumbed at age eight.
Conclusions:
- Prompt diagnosis of cutis laxa is vital due to frequent, potentially life-threatening systemic complications.
- While no specific treatment exists, early identification allows for preventive measures.
- Genetic counseling is an important consideration for affected families.
Abstract:
OBJECTIVE: To focus attention on a rare pathology of the childhood which presents premature aging of the skin and can be lethal. METHODS: The authors present a case of cutis laxa, syndrome of premature aging, in an eight year-old child, and discuss the classification, diagnosis and prognosis of the disease. RESULTS: The child presented signs of premature aging when he was four years-old. The diagnosis of cutis laxa was confirmed by skin biopsy. The patient presented heart failure, a systemic complication different from those previously described, 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.
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