Lelis Syndrome: unveiling a rare phenomenon

Authors

  • S. Sivadas Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India Author https://orcid.org/0009-0001-2676-5349
  • K. Rao Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India Author https://orcid.org/0000-0002-6214-1381
  • V. Ajila Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India Author https://orcid.org/0000-0002-5744-9322
  • Y. Jain Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India Author https://orcid.org/0009-0008-9294-7758

DOI:

https://doi.org/10.2478/AMB-2025-0021

Keywords:

acanthosis nigricans, Lelis syndrome, ectodermal dysplasia, rare genetic disease

Abstract

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.

Author Biographies

  • S. Sivadas, Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India

    Nitte (Deemed to be University),

    A B Shetty Memorial Institute of Dental Sciences

    Department of Oral Medicine and Radiology,

    Mangalore, India.

  • V. Ajila, Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India

    Professor and HOD

    Nitte (Deemed to be University),

    A B Shetty Memorial Institute of Dental Sciences

    Department of Oral Medicine and Radiology,

                Mangalore, India.

  • Y. Jain, Department of Oral Medicine and Radiology, Nitte (Deemed to be University) A B Shetty Memorial Institute of Dental Sciences, Mangalore, India

    Post Graduate Student (Masters in Dental Surgery)

    Nitte (Deemed to be University),

    A B Shetty Memorial Institute of Dental Sciences

    Department of Oral Medicine and Radiology,

    Mangalore, India.

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Published

30.04.2025

How to Cite

Sivadas K, D. S., Rao, D. K., Ajila, D. V., & Jain, D. Y. (2025). Lelis Syndrome: unveiling a rare phenomenon. Acta Medica Bulgarica, 52(Suppl 1), 31-34. https://doi.org/10.2478/AMB-2025-0021