Steiner Carlos Eduardo, Cintra Maria Letícia, Marques-de-Faria Antonia Paula
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil.
Am J Med Genet. 2002 Dec 15;113(4):381-4. doi: 10.1002/ajmg.b.10787.
A 31-year-old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings suggest the diagnosis of Lelis syndrome, as described on the basis of seven unrelated cases. A review concerning this condition is also presented.
本文描述了一名患有外胚层发育不良和黑棘皮病的31岁男性患者。临床发现包括毛发稀少、少汗、掌跖角化过度、指甲营养不良、恒牙早期缺失、智力迟钝和黑棘皮病。这些发现提示为Lelis综合征,该综合征是根据7例无亲缘关系的病例描述的。本文还对这种疾病进行了综述。