Encephalocraniocutaneous Lipomatosis

Haberland, Catherine

doi:10.1001/archneur.1970.00480200050005

Cited by 175 publications

(66 citation statements)

References 10 publications

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“…The present case did not have a pterygium-like choristoma of the eye, like the case reported by Walbaum et al [9], which existed in all other cases, but showed a cloudy cornea as the case of Haberland and Pewu [4] did. All previous cases claimed to have a porencephalic cyst and in some cases enlarged subarachnoid space.…”

Section: Discussionsupporting

confidence: 83%

“…The case was diagnosed as encephalocraniocutaneous lipomatosis, a recently described neurocutaneous syndrome. [4] in 1970 first described a case of a new neurocutaneous syndrome currently recognized as encephalocranio cutaneous lipomatosis (ECCL). The disease was characterized by severe mental retardation, early onset epilepsy, and unilateral eye and skin lesions associated with ipsilateral cerebral malformations.…”

mentioning

confidence: 99%

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Encephalocraniocutaneous Lipomatosis: A Recently Described Neurocutaneous Syndrome

Miyao¹,

Saito²,

Yamamoto³

et al. 1984

Pediatr Neurosurg

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The authors report a 1-year-old Japanese boy, who was noted to have unilateral alopecia and a cloudy cornea since birth. Additional features included mild spasticity and mental retardation, DQ being 70. A non-communicating cystic lesion was found in the right middle cerebral fossa by metrizamide CT scan, and resection of the lesion by craniotomy revealed an arachnoid cyst. The case was diagnosed as encephalocraniocutaneous lipomatosis, a recently described neurocutaneous syndrome.

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Section: Discussionsupporting

confidence: 83%

mentioning

confidence: 99%

Encephalocraniocutaneous Lipomatosis: A Recently Described Neurocutaneous Syndrome

Miyao¹,

Saito²,

Yamamoto³

et al. 1984

Pediatr Neurosurg

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“…Histologic examination in a case revealed a polymicrogyric convolutional pattern. 1 Intracranial lipomas, leptomeningeal lipoangiomatosis, dysmorphic appearances of corpus callosum, and unilateral ocular calcifications are common associations.…”

Section: Discussionmentioning

confidence: 99%

Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder

Singh¹

2017

Delhi Journal of Ophthalmology

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“…The nevus may be associated with papules or nodules showing histopathological features of lipoma, fibrolipoma or angiofibroma [5, 6]. Nevus psiloliparus is a cutaneous hallmark of encephalocraniocutaneous lipomatosis, a syndrome including variable other features such as protuberances of cranial bones, lipodermoid of the conjunctiva, intracranial lipomas and porencephaly that may be associated with mental retardation or epilepsy [4, 7, 8]. …”

Section: Clinical Featuresmentioning

confidence: 99%

“…On clinical examination, nevus psiloliparus is frequently confused with a sebaceous nevus, and for this reason some cases of encephalocraniocutaneous lipomatosis have been mistaken as Schimmelpenning or sebaceous nevus syndrome [8]. However, there are distinct differences.…”

Section: Nevus Psiloliparus Versus Sebaceous Nevusmentioning

confidence: 99%

Nevus psiloliparus: A Distinct Fatty Tissue Nevus

Happle¹,

Küster²

1998

Dermatology

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Background: Encephalocraniocutaneous lipomatosis is usually associated with a peculiar type of fatty tissue nevus which represents a smoothly surfaced and hairless lesion involving the scalp. This disorder has so far not been recognized as a cutaneous entity. Objective: The purpose of this article is to describe the characteristic features of this nevus and to give it a name. Method: From the study of two cases and from a review of the literature we delineate the clinical and histopathological criteria of this disorder for which we propose the term ‘nevus psiloliparus’. This name is derived from the Greek words psilós = hairless and liparós = fatty, and describes the two most characteristic features of the disorder. Results: A comprehensive comparison shows that nevus psiloliparus can be distinguished from other types of fatty tissue nevi by clinical criteria such as localization on the scalp, a flat smooth surface and absence of hair follicles, by the histopathological feature of isolated arrector pili muscles and by the presence of associated extracutaneous features in the form of encephalocraniocutaneous lipomatosis. In particular, nevus psiloliparus can be separated from the Hoffmann-Zurhelle nevus that has so far never been observed in cases of encephalocraniocutaneous lipomatosis. Conclusion: The presently available data suggest that nevus psiloliparus represents a distinct cutaneous entity. Future clinical and genetic research should show whether this concept holds true.

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Encephalocraniocutaneous Lipomatosis

Cited by 175 publications

References 10 publications

Encephalocraniocutaneous Lipomatosis: A Recently Described Neurocutaneous Syndrome

Encephalocraniocutaneous Lipomatosis: A Recently Described Neurocutaneous Syndrome

Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder

Nevus psiloliparus: A Distinct Fatty Tissue Nevus

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