Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report.

Area of Science:

• Genetics and rare diseases
• Pediatric endocrinology
• Dermatology

Background:

• Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder.
• IP typically affects multiple ectodermal structures, including skin, hair, nails, teeth, eyes, and CNS.
• IP is often lethal in males due to its X-linked dominant inheritance pattern.

Observation:

• A 19-month-old Caucasian male presented with clinical manifestations of Incontinentia pigmenti.
• The patient exhibited persistent hypercalcemia, with serum calcium levels ranging from 10.6 to 11.3 mg/dL.
• This presentation is unusual given the typical lethality of IP in males.

Findings:

• The case highlights a rare association between Incontinentia pigmenti and persistent hypercalcemia in a male patient.
• The study discusses potential pathophysiological mechanisms linking IP and hypercalcemia.
• This finding expands the known clinical spectrum of Incontinentia pigmenti.

Implications:

• Understanding this association may improve diagnostic and management strategies for IP patients.
• Further research into the genetic and molecular underpinnings is warranted.
• This case underscores the importance of considering metabolic complications in rare genetic disorders.