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Leopard syndrome: the potential cardiac defect underlying skin phenotypes
Xiaojie Yue1, Xiong Zhao1, Yefeng Dai1
1Department of Burn and Plastic Surgery, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.
Hereditas
|September 7, 2021
Summary
LEOPARD syndrome, a genetic disorder caused by PTPN11 mutations, can present subtly with only skin spots. Early diagnosis is crucial for managing potential cardiac complications.
Area of Science:
- Genetics
- Cardiology
- Dermatology
Background:
- LEOPARD syndrome involves multisystemic anomalies due to germline PTPN11 mutations.
- Phenotypic overlap within RASopathies and variable presentations complicate LEOPARD syndrome diagnosis.
- Underdiagnosis is common as patients may not exhibit all typical clinical features.
Observation:
- A patient initially diagnosed with acquired melanocytic nevi presented solely with pigmented skin spots.
- Pathological examination confirmed multiple lentigines, prompting further investigation.
- Genetic analysis revealed a germline PTPN11 (Tyr279Cys) mutation.
Findings:
- The PTPN11 mutation raised suspicion for LEOPARD syndrome.
- Electrocardiogram (ECG) revealed cardiac defects, confirming the LEOPARD syndrome diagnosis.
- The case highlights that cutaneous manifestations can be the sole presenting sign.
Implications:
- Early diagnosis of LEOPARD syndrome is vital, even with limited symptoms.
- Prompt identification allows for monitoring and prevention of potentially irreversible cardiac damage.
- Recognizing subtle presentations improves diagnostic accuracy and patient outcomes.
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