Arnsmeier S L, Riccardi V M, Paller A S
Department of Pediatrics, Children's Memorial Hospital, Northwestern University Medical School, Chicago, Ill.
Arch Dermatol. 1994 Nov;130(11):1425-6.
Familial multiple cafe au lait spots (CLS) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest tumors.
We describe multiple CLS in 12 patients from three families, each with at least two generations of affected adults. The clinical presentation was consistent within families. In one family, the CLS were accompanied by axillary and inguinal freckling and Lisch nodules. Otherwise, none of the 12 patients had neurofibromas or noncutaneous manifestations of NF-1.
These families provide further evidence that patients may have multiple CLS, with or without axillary freckling or Lisch nodules, and yet not have NF-1. Care must be taken when counseling families with CLS that the diagnosis of NF-1, with its many associated potential problems, is not made erroneously. Studies of the gene mutation(s) of patients with familial multiple CLS are needed to distinguish NF-1 and familial multiple CLS as distinct disorders.
家族性多发性咖啡斑（CLS）是一种罕见的常染色体显性色素沉着障碍，其特征为在1型神经纤维瘤病（NF-1）中可见的多发性咖啡斑，但与NF-1不同的是不存在神经纤维瘤和其他神经嵴肿瘤。
我们描述了来自三个家族的12例患者中的多发性咖啡斑，每个家族至少有两代受影响的成年人。家族内临床表现一致。在一个家族中，咖啡斑伴有腋窝和腹股沟雀斑以及虹膜错构瘤。否则，这12例患者中无一例患有神经纤维瘤或NF-1的非皮肤表现。
这些家族提供了进一步的证据，表明患者可能有多发性咖啡斑，有或没有腋窝雀斑或虹膜错构瘤，但却没有NF-1。在为患有咖啡斑的家族提供咨询时必须谨慎，以免错误地诊断为NF-1，因为NF-1有许多相关的潜在问题。需要对家族性多发性咖啡斑患者的基因突变进行研究，以区分NF-1和家族性多发性咖啡斑这两种不同的疾病。
