Heterogeneity of skin manifestations in patients with Carney complex

Mateus, Christine; Palangié, André; Franck, Nathalie; Groussin, Lionel; Bertagna, Xavier; Avril, Marie-Françoise; Bertherat, Jérôme; Dupin, Nicolas

doi:10.1016/j.jaad.2008.07.032

« Previous Next »Journal of the American Academy of Dermatology
Volume 59, Issue 5 , Pages 801-810, November 2008

Heterogeneity of skin manifestations in patients with Carney complex

Christine Mateus, MD
- Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
- Currently with the Service de Dermatologie, Institut Gustave Roussy, Villejuif.
André Palangié, MD
- Department of Pathology, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
Nathalie Franck, MD
- Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
Lionel Groussin, MD, PhD
- INSERM U567, CNRS UMR8104, Institut Cochin, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
- Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
Xavier Bertagna, MD, PhD
- INSERM U567, CNRS UMR8104, Institut Cochin, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
- Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
Marie-Françoise Avril, MD
- Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
Jérôme Bertherat, MD, PhD
- INSERM U567, CNRS UMR8104, Institut Cochin, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
- Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
Nicolas Dupin, MD
- Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
- Reprint requests: Nicolas Dupin, Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP, Faculté de Médecin René Descartes.

Accepted 21 July 2008. published online 22 September 2008.

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.