LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challenging. Besides, LEOPARD patients do not usually present with all these typical clinical features, increasing the possibility of underdiagnosis or misdiagnosis. Herein, we report a case of LEOPARD syndrome in a patient who only presented with pigmented skin spots and was initially diagnosed with multiple acquired melanocytic nevi. Subsequent pathological examination confirmed the diagnosis of multiple lentigines rather than melanocytic nevi. A genetic study showed a germline PTPN11 (Tyr279Cys) mutation and raised the suspicion of LEOPARD syndrome. A subsequent ECG examination detected potential cardiac defects and confirmed the diagnosis of LEOPARD. We considered that the potential damage of other systems underlying the skin multiple lentigines should not be ignored. The diagnosis of LEOPARD syndrome in an early stage before cardiac damage has reached a serious and irreversible stage can be meaningful for patients to fully understand the potential risks, complications and prognosis of the disease and to take appropriate precautions to prevent the potential risk of cardiac damage.

中文翻译：

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豹综合征：皮肤表型潜在的心脏缺陷

由种系 PTPN11 突变引起的 LEOPARD 综合征 (OMIM #151,100) 的特征是多系统异常和可变的显着表型，例如多发性痣和咖啡色斑、心电图传导异常、眼距过远/阻塞性心肌病、肺动脉狭窄、异常生殖器、生长迟缓和耳聋。表型重叠使 RAS 病的临床鉴别复杂化，使 LEOPARD 的诊断更加混乱和具有挑战性。此外，LEOPARD 患者通常不会出现所有这些典型的临床特征，增加了漏诊或误诊的可能性。在此，我们报告了一例 LEOPARD 综合征患者，该患者仅出现色素性皮肤斑点，最初被诊断为多发性黑色素细胞痣。随后的病理检查证实了多发性痣的诊断，而不是黑色素细胞痣。一项基因研究显示了生殖系 PTPN11 (Tyr279Cys) 突变，并提出了 LEOPARD 综合征的怀疑。随后的心电图检查发现了潜在的心脏缺陷并确认了 LEOPARD 的诊断。我们认为不应忽视皮肤多发性痣下面其他系统的潜在损害。在心脏损害未达到严重和不可逆阶段之前早期诊断LEOPARD综合征，对于患者充分了解该疾病的潜在风险、并发症和预后，采取适当的预防措施，预防心脏损害的潜在风险具有重要意义。 . 一项基因研究显示了生殖系 PTPN11 (Tyr279Cys) 突变，并提出了 LEOPARD 综合征的怀疑。随后的心电图检查发现了潜在的心脏缺陷并确认了 LEOPARD 的诊断。我们认为不应忽视皮肤多发性痣下面其他系统的潜在损害。在心脏损害未达到严重和不可逆阶段之前早期诊断LEOPARD综合征，对于患者充分了解该疾病的潜在风险、并发症和预后，采取适当的预防措施，预防心脏损害的潜在风险具有重要意义。 . 一项基因研究显示了生殖系 PTPN11 (Tyr279Cys) 突变，并提出了 LEOPARD 综合征的怀疑。随后的心电图检查发现了潜在的心脏缺陷并确认了 LEOPARD 的诊断。我们认为不应忽视皮肤多发性痣下面其他系统的潜在损害。在心脏损害未达到严重和不可逆阶段之前早期诊断LEOPARD综合征，对于患者充分了解该疾病的潜在风险、并发症和预后，采取适当的预防措施，预防心脏损害的潜在风险具有重要意义。 . 我们认为不应忽视皮肤多发性痣下面其他系统的潜在损害。在心脏损害未达到严重和不可逆阶段之前早期诊断LEOPARD综合征，对于患者充分了解该疾病的潜在风险、并发症和预后，采取适当的预防措施，预防心脏损害的潜在风险具有重要意义。 . 我们认为不应忽视皮肤多发性痣下面其他系统的潜在损害。在心脏损害未达到严重和不可逆阶段之前早期诊断LEOPARD综合征，对于患者充分了解该疾病的潜在风险、并发症和预后，采取适当的预防措施，预防心脏损害的潜在风险具有重要意义。 .