SOLAMEN syndrome with cardiovascular damage.

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• SOLAMEN syndrome is a rare congenital disorder characterized by progressive, hypertrophic multisystemic diseases.
• It is associated with heterozygous PTEN mutations, but phenotypic overlap with other conditions complicates diagnosis.
• Misdiagnosis is possible due to similarities with Klippel-Trenaunay and Parks-Weber syndromes.

Observation:

• A child presented with macrocephaly, lymphatic malformations, widespread varicosities, limb overgrowth, epidermal nevus, and a large arteriovenous malformation (AVM).
• Clinical, imaging, and genetic evaluations confirmed SOLAMEN syndrome.
• Next-generation sequencing identified a germline PTEN mutation and a PDGFRB variant.

Findings:

• The patient was diagnosed with SOLAMEN syndrome based on characteristic phenotypes.
• Genetic analysis revealed both a PTEN mutation and a PDGFRB variant.
• Echocardiography indicated potential cardiac defects.

Implications:

• Accurate diagnosis of SOLAMEN syndrome is crucial due to its progressive nature and potential for severe complications.
• Regular echocardiographic evaluation and imaging follow-up are recommended for patients.
• Timely interventional therapy for AVMs is advised to manage potential cardiac damage.