Preferred Label : Lentiginosis, inherited patterned;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Lentiginosis, diffuse; Lentiginosis, generalized; Lentiginosis profusa;
Description : O'Neill and James (1989) described autosomal dominant transmission of a pigmentary
pattern characterized by facial, lip, extremity, buttock, and palmoplantar small,
discrete hyperpigmented macules. None of the patients had lesions of the oral mucosa
or internal organ system abnormalities. Thus, the disorder could be distinguished
from the Peutz-Jeghers syndrome (175200), the centrofacial lentiginosis syndrome (151000),
the Carney syndrome (160980) and the LEOPARD syndrome (151100), all of which have
associated internal abnormalities. Although all the patients were of African extraction,
it is unlikely that this trait occurs only in blacks. The pedigrees of 2 families
showed extensive multigeneration involvement with numerous instances of male-to-male
transmission. Xing et al. (2005) reported a 4-generation Chinese family transmitting
generalized lentiginosis as an autosomal dominant trait. Affected individuals had
small brown macules on the face, extremities, and trunk, particularly noticeable on
sun-exposed areas. The macules ranged in color from dark brown to black and ranged
in size from a few mm to 1 cm in diameter. The palms, soles, and buccal mucosa were
not affected. The lesions, which did not darken with sun exposure or lighten during
the winter, first appeared at age 5 to 7 years; although they persisted throughout
life, they faded in later years. The affected individuals had no hypopigmented macules
or noncutaneous abnormalities.;
Inheritance : Autosomal dominant;
Prefixed ID : %151001;
Origin ID : 151001;
UMLS CUI : C3492944;
Automatic exact mappings (from CISMeF team)
- False automatic mappings
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
