Lelis Syndrome: unveiling a rare phenomenon
DOI:
https://doi.org/10.2478/AMB-2025-0021Keywords:
acanthosis nigricans, Lelis syndrome, ectodermal dysplasia, rare genetic diseaseAbstract
Background: Lelis Syndrome is a rare hereditary disorder, distinguished by the coexistence of acanthosis nigricans and ectodermal dysplasia with a recessive mode of inheritance. Clinical characteristics seen are hypodontia, perioral and periorbital hyperpigmentation, leukoderma, palmoplantar hyperkeratosis, nail dystrophy, and intellectual disability. Clinical case description: A male patient in his 30s who was initially diagnosed with acanthosis nigricans was referred to the authors’ department for dental evaluation and opinion. The patient manifested features of Ectodermal Dysplasia which consisted mainly of the inability to sweat, lower heat tolerance, and brittle/thin hair with the absence of facial hair along with manifestation of thickening/hyperpigmentation of the neck and axilla indicative of Acanthosis Nigricans. Conclusion: The dermatological findings in the current patient were typical of acanthosis nigricans and the symptoms were typical of ectodermal dysplasia which collectively led to the diagnosis of Lelis syndrome.
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Copyright (c) 2025 S. Sivadas, K. Rao, V. Ajila, Y. Jain (Author)

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