Mateus Christine, Palangié André, Franck Nathalie, Groussin Lionel, Bertagna Xavier, Avril Marie-Françoise, Bertherat Jérôme, Dupin Nicolas
Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France.
J Am Acad Dermatol. 2008 Nov;59(5):801-10. doi: 10.1016/j.jaad.2008.07.032. Epub 2008 Sep 19.
Carney complex is an autosomal dominant endocrine disorder associated with skin involvement.
To describe the dermatological signs of patients diagnosed with Carney complex (CNC) or primary pigmented adrenocortical nodular disease (PPNAD).
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.
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.
The classification proposed in our study should be validated on more patients.
Skin manifestations are heterogeneous in patients with CNC, and skin phenotype seems to be correlated with endocrine phenotype.
卡尼综合征是一种常染色体显性遗传的内分泌疾病，伴有皮肤病变。
描述诊断为卡尼综合征（CNC）或原发性色素沉着肾上腺皮质结节病（PPNAD）患者的皮肤体征。
我们在一家大学医院内分泌科对住院患者和门诊患者进行了一项前瞻性单中心描述性研究。2003年9月至2006年3月期间，前瞻性纳入了来自14个家庭的16例诊断为CNC或PPNAD的患者。收集的数据包括入组时的年龄、性别、菲茨帕特里克皮肤光类型、典型CNC皮肤病变（雀斑样痣、雀斑、蓝痣、皮肤黏液瘤）的存在、位置和密度，以及其他非疾病特异性皮肤病变。对认为病变为退行性或用于确诊的病例进行组织病理学分析。系统评估患者的内分泌和内脏受累情况，并对PRKAR1A基因进行基因分型。
12例患者有雀斑样痣（75%），7例患者有蓝痣（43%），5例患者有皮肤黏液瘤（31%）。根据皮肤体征，患者可分为3组：无明显皮肤病变的患者（n = 3）、皮肤病变与CNC无直接关联的患者（n = 4）、有提示CNC的皮肤病变的患者（n = 9）。我们在3组患者中发现了皮肤和内分泌体征之间的相关性：病变较少的患者、具有中间表型的患者以及既有许多内分泌体征又有皮肤体征的患者。
我们研究中提出的分类应在更多患者中进行验证。
CNC患者的皮肤表现具有异质性，皮肤表型似乎与内分泌表型相关。
