Lelis syndrome

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2024-05-06 02:14
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Lelis syndrome
Other namesEctodermal dysplasia-acanthosis nigricans syndrome
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.
SpecialtyMedical genetics

Lelis syndrome is a genetic disorder, a rare condition with dermatological and dental findings[1] characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit,[2] disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma)[2] and hypodontia. Transmission is autosomal recessive.[1][3]

See also

References

  1. 1.0 1.1 Samdani AJ (October 2004). "Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome)". J Coll Physicians Surg Pak. 14 (10): 626–7. PMID 15456556.
  2. 2.0 2.1 Lelis J (June 1992). "Autosomal recessive ectodermal dysplasia". Cutis. 49 (6): 435–7. PMID 1628512.
  3. Steiner CE, Cintra ML, Marques-de-Faria AP (December 2002). "Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)". Am. J. Med. Genet. 113 (4): 381–4. doi:10.1002/ajmg.b.10787. PMID 12457412.

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