González-Enseñat M Antonia, Vicente Asunción, Poo Pilar, Catalá Vicenç, Mar Pérez-Iribarne M, Fuster Carme, Geán Esther, Happle Rudolf
Department of Dermatology, University of Barcelona, Spain.
Arch Dermatol. 2009 May;145(5):576-8. doi: 10.1001/archdermatol.2009.37.
Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular, and skeletal defects. Recently it has been suggested that this phenotype originates from mosaic partial or complete trisomy 13. We report clinical and cytogenetic data for 2 cases.
A bizarre pattern of multiple leaflike macules was noted in 2 girls with mental deficiency. In patient 1, additional anomalies included syndactyly, clinodactyly, trichomegaly of the eyelashes, low frontal hairline, and several pale pink telangiectatic macules. In patient 2, epileptic seizures, dental malposition, oligodontia, preauricular fistulas, scoliosis, tethered cord, and syringomyelia were noted. A diagnosis of phylloid hypomelanosis was made in both patients. In both patients, blood lymphocytes showed a normal karyotype 46,XX; however, fibroblasts derived from lesional skin demonstrated tetrasomy of chromosome 13q21-qter in patient 1 and trisomy of 13q22-qter in patient 2.
These 2 cases lend further support to the concept that phylloid hypomelanosis is a distinct clinicogenetic entity that should no longer be confused with pigmentary mosaicism of the Ito type. From a comparison of our cytogenetic findings with those documented in previous articles, we infer that phylloid hypomelanosis is most likely related to the 13q region.
叶状色素减退症是一种罕见的神经皮肤综合征，其特征为色素减退模式，由类似树叶或长方形的斑疹组成，类似花卉装饰。相关的皮肤外异常包括脑部、眼部和骨骼缺陷。最近有人提出，这种表型起源于13号染色体的镶嵌性部分或完全三体性。我们报告2例患者的临床和细胞遗传学数据。
在2名智力缺陷女童中发现了一种奇异的多发性叶状斑疹模式。患者1还存在并指、指侧弯、睫毛粗长、额发际线低以及几个淡粉色的毛细血管扩张性斑疹。患者2有癫痫发作、牙齿错位、缺牙、耳前瘘管、脊柱侧弯、脊髓栓系和脊髓空洞症。两名患者均被诊断为叶状色素减退症。两名患者的血液淋巴细胞核型均正常，为46,XX；然而，患者1病变皮肤来源的成纤维细胞显示13q21-qter染色体四体性，患者2为13q22-qter染色体三体性。
这2例病例进一步支持了叶状色素减退症是一种独特的临床遗传实体的概念，不应再与伊藤型色素镶嵌症相混淆。通过将我们的细胞遗传学发现与先前文章中记录的结果进行比较，我们推断叶状色素减退症很可能与13q区域有关。
