An 8-month-old boy is evaluated for developmental delay and infantile spasms. Wood lamp examination reveals several elongated hypopigmented macules with shaggy irregular borders over the trunk and limbs. Which finding would most strongly support the underlying diagnosis?

• A Shagreen patch over the lumbosacral region ✓
• B Axillary freckling and cutaneous neurofibromas
• C Port-wine stain in V1 distribution
• D Honey-colored crusted lesions around the nose

Explanation

Ash-leaf hypopigmented macules are the earliest cutaneous sign of tuberous sclerosis, visible best under Wood lamp before 1 year, and infantile spasms with West syndrome is their typical neurological association. B shagreen patch (connective tissue nevus), facial angiofibromas and ungual fibromas complete the diagnostic picture. Axillary freckling defines neurofibromatosis type 1, whose pigmentary lesions are cafe-au-lait macules rather than ash-leaf macules.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.