BACKGROUND: Carney complex is an autosomal dominant endocrine disorder associated with skin involvement. OBJECTIVE: To describe the dermatological signs of patients diagnosed with Carney complex (CNC) or primary pigmented adrenocortical nodular disease (PPNAD). METHODS: We conducted a prospective, single-center descriptive study of inpatients and outpatients at a university hospital endocrinology department. Sixteen patients from 14 families diagnosed with CNC or PPNAD were prospectively included in the study between September 2003 and March 2006. Data collected were age at enrollment; sex; Fitzpatrick skin phototype; the presence, location, and density of classic CNC skin lesions--lentigines, freckles, blue nevi, cutaneous myxoma--and other non-disease-specific skin lesions. Histopathologic analysis was carried out in cases in which the lesions were thought to be degenerative or to confirm the diagnosis. Patients were systematically assessed for endocrine and visceral involvement and genotyped for the PRKAR1A gene. RESULTS: Twelve patients had lentiginosis (75%), 7 patients had blue nevi (43%), and 5 patients had cutaneous myxoma (31%). Patients could be classified into 3 groups based on skin signs: patients with no prominent skin lesions (n = 3), patients with skin lesions that could not be directly linked to CNC (n = 4), and patients with cutaneous lesions suggestive of CNC (n = 9). We found a correlation between dermatological and endocrine signs in 3 groups of patients: patients with few lesions, patients with an intermediate phenotype, and patients with both many endocrine signs and dermatological signs. LIMITATIONS: The classification proposed in our study should be validated on more patients. CONCLUSIONS: Skin manifestations are heterogeneous in patients with CNC, and skin phenotype seems to be correlated with endocrine phenotype.
BACKGROUND: Carney complex is an autosomal dominant endocrine disorder associated with skin involvement. OBJECTIVE: To describe the dermatological signs of patients diagnosed with Carney complex (CNC) or primary pigmented adrenocortical nodular disease (PPNAD). METHODS: We conducted a prospective, single-center descriptive study of inpatients and outpatients at a university hospital endocrinology department. Sixteen patients from 14 families diagnosed with CNC or PPNAD were prospectively included in the study between September 2003 and March 2006. Data collected were age at enrollment; sex; Fitzpatrick skin phototype; the presence, location, and density of classic CNC skin lesions--lentigines, freckles, blue nevi, cutaneous myxoma--and other non-disease-specific skin lesions. Histopathologic analysis was carried out in cases in which the lesions were thought to be degenerative or to confirm the diagnosis. Patients were systematically assessed for endocrine and visceral involvement and genotyped for the PRKAR1A gene. RESULTS: Twelve patients had lentiginosis (75%), 7 patients had blue nevi (43%), and 5 patients had cutaneous myxoma (31%). Patients could be classified into 3 groups based on skin signs: patients with no prominent skin lesions (n = 3), patients with skin lesions that could not be directly linked to CNC (n = 4), and patients with cutaneous lesions suggestive of CNC (n = 9). We found a correlation between dermatological and endocrine signs in 3 groups of patients: patients with few lesions, patients with an intermediate phenotype, and patients with both many endocrine signs and dermatological signs. LIMITATIONS: The classification proposed in our study should be validated on more patients. CONCLUSIONS: Skin manifestations are heterogeneous in patients with CNC, and skin phenotype seems to be correlated with endocrine phenotype.
Authors: Adrian Palencia-Campos; Phillip C Aoto; Erik M F Machal; Ana Rivera-Barahona; Patricia Soto-Bielicka; Daniela Bertinetti; Blaine Baker; Lily Vu; Francesca Piceci-Sparascio; Isabella Torrente; Eveline Boudin; Silke Peeters; Wim Van Hul; Celine Huber; Dominique Bonneau; Michael S Hildebrand; Matthew Coleman; Melanie Bahlo; Mark F Bennett; Amy L Schneider; Ingrid E Scheffer; Maria Kibæk; Britta S Kristiansen; Mahmoud Y Issa; Mennat I Mehrez; Samira Ismail; Jair Tenorio; Gaoyang Li; Bjørn Steen Skålhegg; Ghada A Otaify; Samia Temtamy; Mona Aglan; Aia E Jønch; Alessandro De Luca; Geert Mortier; Valérie Cormier-Daire; Alban Ziegler; Mathew Wallis; Pablo Lapunzina; Friedrich W Herberg; Susan S Taylor; Victor L Ruiz-Perez Journal: Am J Hum Genet Date: 2020-10-14 Impact factor: 11.025