McCune-Albright 综合征的口腔色素沉着。
Oral pigmentation in McCune-Albright syndrome.
机构信息
Department of Dermatology, Georgetown University Hospital/Washington Hospital Center, Washington, DC.
Division of Endocrinology and Diabetes, Children's National Medical Center, Washington, DC3Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Medical Center, Washington, DC.
出版信息
JAMA Dermatol. 2014 Jul;150(7):760-3. doi: 10.1001/jamadermatol.2014.184.
IMPORTANCE
The differential diagnosis for oral lentigines includes several syndromes with important associated systemic findings. McCune-Albright syndrome (MAS), a mosaic condition associated with café au lait pigmentation, is not typically considered a mucosal lentiginosis syndrome. The clinical phenotype of MAS is variable because of mosaicism, but oral pigmentation developing in mid-childhood to early adulthood should be recognized as a clinical feature of MAS.
OBSERVATIONS
We present 4 patients with MAS who developed oral mucosal pigmentation during childhood or early adulthood. All patients had other characteristic findings of MAS including hyperfunctioning endocrinopathies, polyostotic fibrous dysplasia, and café au lait pigmentation.
CONCLUSIONS AND RELEVANCE
Oral pigmentation is an underrecognized finding in MAS and presents later in development compared with the other mucosal lentiginosis syndromes. The diagnosis of MAS is most commonly a clinical diagnosis because mutational analysis is challenging in mosaic conditions. Expanding the cutaneous phenotype to include oral pigmentation further characterizes the clinical findings in this mosaic condition, broadens the differential diagnosis of syndromes with oral pigmentation, and in some cases may aid in earlier diagnosis of MAS.
重要性
口腔雀斑的鉴别诊断包括几种伴有重要相关系统表现的综合征。McCune-Albright 综合征（MAS）是一种与咖啡牛奶色素沉着相关的镶嵌性疾病，通常不被认为是黏膜雀斑综合征。由于镶嵌性，MAS 的临床表型是可变的，但在儿童期到成年早期发展的口腔色素沉着应被视为 MAS 的临床特征。
观察结果
我们介绍了 4 名患有 MAS 的患者，他们在儿童期或成年早期出现口腔黏膜色素沉着。所有患者均有 MAS 的其他特征性表现，包括内分泌功能亢进、多骨性纤维结构不良和咖啡牛奶色素沉着。
结论和相关性
口腔色素沉着是 MAS 中一种未被充分认识的表现，与其他黏膜雀斑综合征相比，其在发育过程中出现较晚。由于镶嵌性情况下的基因突变分析具有挑战性，MAS 的诊断通常是临床诊断。将皮肤表型扩展到包括口腔色素沉着，进一步描述了这种镶嵌性疾病的临床发现，拓宽了具有口腔色素沉着的综合征的鉴别诊断，并在某些情况下可能有助于 MAS 的早期诊断。
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