Table 1

 The main lentiginoses: clinical manifestations and genetics

DiseaseMIMClinical manifestationsInheritanceLocusGene
BRRS/CD, Bannayan-Riley-Ruvalcaba/Cowden disease; PPNAD, primary pigmented nodular adrenocortical disease.
Carney complex160980Lentigines, PPNAD cardiac and skin myxoma schwannomas, acromegaly, breast and testicular tumoursAD17q22–24 2p16PRKAR1A (CNC2) (CNC1) (?)
Peutz-Jeghers175200Lentigines, GI polyps, neoplasia (GI tract, pancreas breast, ovary, uterus)AD19p13.3 19qLKB1/STK11 (?)
LEOPARD151100Lentigines, cardiac conduction abnormalities, aneurysms, pulmonic stenosis, cephalo-facial dysmorphism, short stature, sensorineural deafness, mental retardation, skeletal abnormalitiesAD12q22-qter PTPN11
BRRS/CD153480Macrocephaly, lipomatosis, pigmentation of the glans penis, mentalAD10q23 PTEN
retardation, vascular malformations
Lentiginosis151001Lentigines (centrofacial, palmoplantar, trunk)ADUnknownUnknown
151000As above in addition to mental retardation, skeletal dysraphiaAD/sporadicUnknownUnknown