Lelis Syndrome

Lelis (1978, 1979) described 4 unrelated patients of eastern European origin with the association of ectodermal dysplasia and acanthosis nigricans. Lelis (1992) added 3 new cases to the literature. The 7 patients, 3 males and 4 females, ranged in age from 11 to 53 years, and all had hypotrichosis, hypohidrosis, and acanthosis nigricans. Two had perioral radial furrows, 5 had hypodontia, 4 had palmoplantar hyperkeratosis, and 5 had furrowed tongues. Three had nail dystrophy and 1 was mentally retarded. All 7 cases were sporadic, and no similar signs were found in close relatives. One patient had normal children.

Steiner et al. (2002) reported a 31-year-old male patient with ectodermal dysplasia, acanthosis nigricans, hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early-onset loss of permanent dentition, perioral radial furrows, and mental retardation. He was the eleventh child of a 47-year-old father and 40-year-old mother of Portuguese, Afro-Brazilian, and Amerindian ancestry. His parents and sibs were healthy. His growth parameters were within normal limits. Metabolic and hormonal testing was normal, as was his karyotype, computed tomography scan of the brain, and radiographs of the skull, hands, and feet.

Because the facial features, hypotrichosis, and anodontia seen in a patient diagnosed with Lelis syndrome (van Steensel et al., 2008) were reminiscent of hypohidrotic ectodermal dysplasia (HED; see 305100), van Steensel and van der Hout (2009) analyzed the EDA gene (300451) in this patient and identified a known causative missense mutation (R156H; 300451.0007). Van Steensel and van der Hout (2009) suggested that Lelis syndrome may be a manifestation of X-linked HED.