Sternal malformation/vascular dysplasia syndrome with linear hypopigmentation

Area of Science:

• Medical Genetics
• Pediatric Cardiology
• Dermatology

Background:

• PHACES syndrome is a rare condition characterized by multiple congenital anomalies, including facial hemangiomas, sternal defects, coarctation of the aorta, and cerebral vascular anomalies.
• The syndrome presents a complex constellation of findings requiring multidisciplinary management.
• Previous reports have not documented pigmentary changes associated with PHACES syndrome.

Observation:

• A 7-year-old boy with a confirmed diagnosis of PHACES syndrome presented with typical features including facial hemangioma, sternal depression, coarctation of the aorta, ventricular septal defect, and dysplastic cerebral arteries.
• At age 5, the patient developed linear hypopigmentation along the lines of Blaschko on his right arm, right hand, and back.
• These pigmentary changes were noted without any preceding inflammatory condition and remained stable.

Findings:

• The patient's presentation included a rare association of Blaschko linear hypopigmentation with PHACES syndrome.
• This represents the first reported instance of such pigmentary changes in individuals diagnosed with sternal malformation/vascular dysplasia syndrome.
• The observed hypopigmentation persisted without alteration, suggesting a potential link to the underlying genetic or developmental processes of the syndrome.

Implications:

• The inclusion of Blaschko linear hypopigmentation broadens the phenotypic spectrum of PHACES syndrome.
• This finding may prompt closer dermatological evaluation in patients with PHACES syndrome.
• Further research is warranted to elucidate the pathogenic mechanisms connecting vascular anomalies, malformations, and pigmentary changes in this syndrome.