The clinical
characteristics of CNC have been recently
reviewed and are also presented in Table 1 (Boikos and
Stratakis, 2006; Mateus et al., 2008). A definite diagnosis
of CNC is given if two or more major manifestations
are present (Bertherat, 2006; Mateus et al., 2008; Sandrini
and Stratakis, 2003; Stratakis et al., 2001). A number
of related manifestations may accompany or suggest
the presence of CNC, but are not considered diagnostic
of the disease (see Table 1). Cutaneous manifestations
constitute three of the major disease manifestations: (1)
spotty skin pigmentation with a typical distribution (lips,
conjunctiva, and inner or outer canthi, genital mucosa);
(2) cutaneous or mucosal myxoma; and (3) blue nevi
(multiple) or epithelioid blue nevus. Suggestive or
associated with CNC findings but not diagnostic are:
(1) intense freckling (without darkly pigmented spots or
typical distribution); (2) multiple blue nevi of common
type; (3) cafe´ -au-lait spots or other ‘birthmarks,’ and (4)
multiple skin tags or other skin lesions, including lipomas
and angiofibromas
Figure 1. (A) Characteristic pigmentation in a patient with Carney
complex; the lentigines are typically located on the eyelids and the
inner canthi; a small myxoma is present on the upper eyelid
(arrow); (B) Genital macules in a patient with Carney complex; this
are characteristic mucosal lesions in patients with the complex; (C)
multiple pigmented lesions, including blue nevy (arrow) on the face
of a patient and (D) subcutaneous myxoma on the back of the
shoulder of a patient with Carney complex.