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and ipsilateral malformations of the central nervous system&#46; We report the case of a neonate with nevus psiloliparus and aplasia cutis congenita &#40;ACC&#41; on the scalp&#8212;an association known as a didymosis aplasticopsilolipara&#8212;in addition to ocular lesions &#40;lipodermoid cysts and coloboma&#41;&#44; a right temporal arachnoid cyst&#44; and aortic coarctation&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">The patient was a 6-day-old neonate&#44; born at term after an uncomplicated pregnancy and normal vaginal delivery&#59; he was the first child of unrelated healthy parents&#46; Physical examination showed a hairless&#44; well-defined&#44; soft&#44; yellowish area adjacent to a bright red&#44; hairless&#44; circumscribed lesion covered by a thin transparent membrane in the right frontoparietal region &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; In addition&#44; 2 yellow papules were observed on the right upper eyelid &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#59; these were diagnosed by the ophthalmologist as lipodermoid cysts associated with an ipsilateral coloboma&#46; Neurological examination was normal&#46; Histopathologic examination of the hairless area of the scalp showed abundant fatty tissue&#44; rudimentary hair follicles&#44; and isolated arrector pili muscles&#59; the findings were compatible with nevus psiloliparus&#46; Brain magnetic resonance imaging &#40;MRI&#41; showed an arachnoid cyst occupying the right temporal fossa &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41; and echocardiography revealed moderate aortic coarctation&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The clinical&#44; histological&#44; and brain MRI findings led to a diagnosis of ECCL&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">ECCL is a neurocutaneous syndrome of unknown etiology&#46; Described in 1970 by Haberland and Perou&#44;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> it is characterized by unilateral lesions in tissues of ectodermal and mesodermal origin&#58; skin&#44; eye&#44; adipose tissue&#44; and brain&#46; Aortic coarctation&#44; progressive bone cysts&#44; and jaw tumors have also been described in association with this syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> The differential diagnosis with other neurocutaneous mosaicisms&#44; such as Delleman&#44; Goltz&#44; Goldenhar&#44; or Proteus syndromes&#44; can be very difficult due to the large number of overlapping features&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Nevus psiloliparus in close association with ACC was first described in 2 patients by Torrelo et al&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> in 2005&#59; a third case was reported by Stieler et al&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> in 2008&#46; This association&#44; known as didymosis aplasticopsilolipara&#44; has been described as an example of nonallelic twin spotting&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;8</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Our case is the fourth report of ACC and nevus psiloliparus in association with ECCL&#46; The fact that this association has been described in isolated cases only suggests that it is purely coincidental&#59; however&#44; we consider that if new cases of ECCL with this characteristic clinical presentation are reported&#44; we may need to consider the possibility that ACC and nevus psiloliparus form part of the clinical spectrum of this neurocutaneous syndrome&#46;</p></span>"
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Case and Research Letters
Encephalocraniocutaneous Lipomatosis and Didymosis Aplasticopsilolipara
Lipomatosis encefalocraneocutánea y didimosis aplasticopsilolípara
N. Martí
Autor para correspondencia
nuriamarfa@hotmail.com

Corresponding author.
, V. Alonso, E. Jordá
Servicio de Dermatología, Hospital Clínico Universitario de Valencia, Valencia, Spain
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and ipsilateral malformations of the central nervous system&#46; We report the case of a neonate with nevus psiloliparus and aplasia cutis congenita &#40;ACC&#41; on the scalp&#8212;an association known as a didymosis aplasticopsilolipara&#8212;in addition to ocular lesions &#40;lipodermoid cysts and coloboma&#41;&#44; a right temporal arachnoid cyst&#44; and aortic coarctation&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">The patient was a 6-day-old neonate&#44; born at term after an uncomplicated pregnancy and normal vaginal delivery&#59; he was the first child of unrelated healthy parents&#46; Physical examination showed a hairless&#44; well-defined&#44; soft&#44; yellowish area adjacent to a bright red&#44; hairless&#44; circumscribed lesion covered by a thin transparent membrane in the right frontoparietal region &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; In addition&#44; 2 yellow papules were observed on the right upper eyelid &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#59; these were diagnosed by the ophthalmologist as lipodermoid cysts associated with an ipsilateral coloboma&#46; Neurological examination was normal&#46; Histopathologic examination of the hairless area of the scalp showed abundant fatty tissue&#44; rudimentary hair follicles&#44; and isolated arrector pili muscles&#59; the findings were compatible with nevus psiloliparus&#46; Brain magnetic resonance imaging &#40;MRI&#41; showed an arachnoid cyst occupying the right temporal fossa &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41; and echocardiography revealed moderate aortic coarctation&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The clinical&#44; histological&#44; and brain MRI findings led to a diagnosis of ECCL&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">ECCL is a neurocutaneous syndrome of unknown etiology&#46; Described in 1970 by Haberland and Perou&#44;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> it is characterized by unilateral lesions in tissues of ectodermal and mesodermal origin&#58; skin&#44; eye&#44; adipose tissue&#44; and brain&#46; Aortic coarctation&#44; progressive bone cysts&#44; and jaw tumors have also been described in association with this syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> The differential diagnosis with other neurocutaneous mosaicisms&#44; such as Delleman&#44; Goltz&#44; Goldenhar&#44; or Proteus syndromes&#44; can be very difficult due to the large number of overlapping features&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Nevus psiloliparus in close association with ACC was first described in 2 patients by Torrelo et al&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> in 2005&#59; a third case was reported by Stieler et al&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> in 2008&#46; This association&#44; known as didymosis aplasticopsilolipara&#44; has been described as an example of nonallelic twin spotting&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;8</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Our case is the fourth report of ACC and nevus psiloliparus in association with ECCL&#46; The fact that this association has been described in isolated cases only suggests that it is purely coincidental&#59; however&#44; we consider that if new cases of ECCL with this characteristic clinical presentation are reported&#44; we may need to consider the possibility that ACC and nevus psiloliparus form part of the clinical spectrum of this neurocutaneous syndrome&#46;</p></span>"
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