1/24. Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome.Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital disorder and was first described in 1970. The main clinical features of the syndrome include convulsions beginning in infancy, mental retardation, and unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral manifestations. A 14-year-old caucasian boy with ECCL associated with otolaryngologic manifestations is reported. To our knowledge, this is the first case of ECCL with otolaryngologic manifestation in the English literature.- - - - - - - - - - ranking = 1keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
2/24. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant diagnosed with ECCL at birth. The antenatal sonogram at 28 weeks of gestation showed normal intracranial structures; the sonogram at 38 weeks of gestation showed asymmetry of the cerebral hemispheres and ventriculomegaly. magnetic resonance imaging at age 6 weeks demonstrated a porencephalic cyst on the left, hemiatrophy of the left cerebrum with cortical dystrophy, and a lipoma in the middle cranial fossa. Histologic findings of the resected cutaneous lesion confirmed the presence of fibrolipoma hamartoma. This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes.- - - - - - - - - - ranking = 0.25keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
3/24. Congenital infiltrating lipomatosis of the face with cerebral abnormalities.The aim of this study was to describe a possible variant of encephalo-craniocutaneous lipomatosis syndrome. Three cases of congenital infiltrating lipomatosis of the face, associated with cutaneous, subcutaneous, and cerebral abnormalities, are presented. This neurocutaneous syndrome appears very similar to encephalo-craniocutaneous lipomatosis syndrome but lacks the typical eye lesions.- - - - - - - - - - ranking = 0.25keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
4/24. Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.- - - - - - - - - - ranking = 1.25keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
5/24. Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis.We describe a white female infant with neurocutaneous melanosis (NCM) and encephalocraniocutaneous lipomatosis (ECCL). Multiple, giant and small congenital melanocytic nevi (CMN) were observed on the head, neck and trunk and involved 70% of body surface area. Histologic examination of several CMN revealed atypical nodular proliferations of dermal nevomelanocytes. In a small (<1 cm) truncal CMN, single and dyscohesive intraepidermal nests of atypical nevomelanocytes simulating a superficial spreading melanoma, were observed. The placenta was grossly normal and histologically demonstrated multiple banal appearing nevomelanocytes within the stroma of its villi. At the 17-month follow-up no evidence of primary or metastatic melanoma was present. This previously undescribed association of NCM, ECCL and placental nevomelanocytes provides strong support for the hypothesized causal role of anomalous neural crest morphogenesis and migration in the development of all three disorders. The genetic mechanism underlying these complex birth defects has been hypothesized to result from the action of lethal autosomal dominant genes surviving by mosaicism.- - - - - - - - - - ranking = 0.022354538406368keywords = neurocutaneous (Clic here for more details about this article) |
6/24. Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome.The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated.(1) Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling. In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.- - - - - - - - - - ranking = 1.2723545384064keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
7/24. Encephalocraniocutaneous lipomatosis: case report and review of the literature.PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. methods: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.- - - - - - - - - - ranking = 0.25keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
8/24. Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement.Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, goldenhar syndrome and proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.- - - - - - - - - - ranking = 0.044709076812735keywords = neurocutaneous (Clic here for more details about this article) |
9/24. scalp lipomas and cerebral malformations--report of a case and review of the literature.A child is reported with a scalp lipoma and underlying bony skull defect and porencephaly. The clinical picture is compatible with a diagnosis of encephalocraniocutaneous lipomatosis, although there is no alopecia overlying the lipoma and no scleral lesions. In addition, this child has unilateral ptosis and syndactyly. This report extends our appreciation of the phenotype of this neurocutaneous disorder.- - - - - - - - - - ranking = 0.022354538406368keywords = neurocutaneous (Clic here for more details about this article) |
10/24. Encephalocraniocutaneous lipomatosis: neurologic manifestations.We report a new case of encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome of unknown etiology with involvement of tissues arising from the mesoderm and ectoderm: skin, eye, adipose tissue, and brain. We also review the neurologic manifestations of the syndrome, the most frequent of which include seizures, ventricular enlargement, calcifications, mental retardation, and cerebellopontine angle tumor. Our patient had an extensive extradural spinal cord lipomatous lesion, emphasizing the importance of screening for spinal abnormalities in asymptomatic patients with this condition.- - - - - - - - - - ranking = 0.25keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
| | Next -> |