Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma

Ananya Sharma; Bhawana Aggarwal; Aanchal Kakkar; Niraj Nirmal Pandey; Neha Taneja

doi:10.1111/pde.15581

Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma

Pediatr Dermatol. 2024 Mar 18. doi: 10.1111/pde.15581. Online ahead of print.

Authors

Ananya Sharma¹, Bhawana Aggarwal², Aanchal Kakkar³, Niraj Nirmal Pandey⁴, Neha Taneja¹

Affiliations

¹ Department of Dermatology and Venereology, All India Institute of Medical Sciences, AIIMS, New Delhi, India.
² Department of Medical Genetics, All India Institute of Medical Sciences, AIIMS, New Delhi, India.
³ Department of Pathology, All India Institute of Medical Sciences, AIIMS, New Delhi, India.
⁴ Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, AIIMS, New Delhi, India.

PMID: 38500310
DOI: 10.1111/pde.15581

Abstract

A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash-leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.

Keywords: ash-leaf macule; dermoscopy; rhabdomyoma; sacral chordoma; sirolimus; tuberous sclerosis.

Publication types

Letter