Cutis mamorata telangiectatica congenita in two sisters

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular malformation.
• Understanding its genetic basis and clinical variability is crucial for diagnosis and management.

Observation:

• Two adult sisters presented with CMTC, noted from birth with minimal age-related changes.
• One sister exhibited associated symptoms: hypertension, acrocyanosis, and hallux ulceration.

Findings:

• The study suggests Van Lohuizen syndrome, a form of CMTC, is inherited in an autosomal dominant pattern.
• Low penetrance and significant intrafamilial variability in symptom expression are characteristic.

Implications:

• This case highlights the importance of considering genetic inheritance patterns in CMTC.
• Recognizing intrafamilial variability aids in diagnosing and counseling affected families.
• Further research into CMTC genetics can improve patient outcomes.