Progressive cardiomyopathic lentiginosis: report of six cases and one autopsy

Area of Science:

• Genetics and rare diseases
• Cardiology
• Dermatology

Background:

• Progressive cardiomyopathic lentiginosis (PCL) is a rare genetic disorder.
• It presents with multisystem abnormalities, often including cardiac and cutaneous manifestations.
• Lentigines are a key diagnostic feature, typically appearing early in life.

Purpose of the Study:

• To describe the clinical features of Progressive cardiomyopathic lentiginosis (PCL) in a pediatric cohort.
• To highlight the most consistent diagnostic markers for PCL in children.
• To aid in the early identification and management of PCL.

Main Methods:

• Retrospective case series.
• Clinical data collection from six pediatric patients diagnosed with PCL.
• Analysis of presenting signs and symptoms, including dermatological, cardiac, and other systemic findings.

Main Results:

• The most consistent findings in children with PCL were multiple cutaneous lentigines, structural cardiac anomalies, and electrocardiographic alterations.
• Less frequent manifestations included neurosensory deafness, short stature, and abnormalities of the bones, eyes, and genitourinary system.
• Lentigines were identified as a crucial early diagnostic indicator.

Conclusions:

• Early recognition of PCL in children is facilitated by the presence of lentigines, cardiac abnormalities, and ECG changes.
• PCL is a complex syndrome requiring a multidisciplinary approach for comprehensive patient care.
• Further research is needed to understand the long-term prognosis and management strategies for PCL.