1/95. Encephalocraniocutaneous lipomatosis: a new case report and review of the literature. Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in south america. ( info) |
2/95. Port-wine-stain (nevus flammeus), congenital Becker's nevus, cafe-au-lait-macule and lentigines: phakomatosis pigmentovascularis type Ia--a new combination. A 16-year-old male had brown macules in a geographic pattern with increased terminal hair on the back and dusky red partially blanchable non progressing macules on his left thigh since birth. Clinical diagnoses of Becker's nevus and port-wine-stain were made and confirmed histopathologically. In addition, he had multiple lentigines on the face and trunk and a single cafe-au-lait-macule on his chest. ( info) |
3/95. Phakomatosis pigmentovascularis IIb with renal anomaly. Phakomatosis pigmentovascularis (PPV) is a rare congenital naevoid syndrome; most case reports originate in japan. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary naevus with or without systemic involvement. We report an 8-year-old Taiwanese boy, who was born with extensive naevus flammeus and other anomalies comprising persistent aberrant mongolian spot-like pigmentary patches, leg-length discrepancy, pelvic obliquity, scoliosis and bilateral melanosis oculi bulbi. Further investigation also revealed agenesis of the right kidney. The cutaneous lesions remained unchanged over a 3-year follow-up period. Within the classification of PPV, this boy's disorder represents an example of PPV IIb. Right kidney agenesis, which has never been observed in PPV, may be an incidental finding. ( info) |
4/95. Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. OBJECTIVE: Lhermitte-Duclos disease, or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous lesion that can cause progressive mass effects in the posterior fossa. Cowden disease, or multiple hamartoma-neoplasia syndrome, is a rare autosomal dominant disorder characterized by mucocutaneous hamartomas and high incidences of systemic malignancies. We recently treated a patient with manifestations of both Lhermitte-Duclos disease and Cowden disease, and we were intrigued by the occurrence of these two rare disorders in the same patient. The purpose of the present study was to examine the nature of the association between Lhermitte-Duclos disease and Cowden disease. methods: The records for all patients who had been diagnosed at our institution as having Lhermitte-Duclos disease were reviewed, to determine whether these patients also exhibited manifestations of Cowden disease. Data were obtained from multiple sources, including patient interviews, correspondence with treating physicians, and chart reviews. RESULTS: During the past 40 years, five patients were diagnosed at Case Western Reserve University as having Lhermitte-Duclos disease. All five patients exhibited manifestations of Cowden disease. Before this review, Cowden disease had not been diagnosed for three of the patients. In our most recent case, the diagnoses of both disorders were established preoperatively. That patient was observed to have a deletion in the critical portion of Exon 5 of the PTEN gene, the gene associated with Cowden disease. CONCLUSION: Inclusion of Lhermitte-Duclos disease in the Cowden disease spectrum suggests that Cowden disease is a true phakomatosis, with hamartomas arising from cutaneous and neural ectoderm. Recent advances in molecular genetics may help to refine the current descriptive classification of the phakomatoses. The association between Lhermitte-Duclos disease and Cowden disease has been under-recognized and under-reported. Recognition of this association has direct clinical relevance, because diligent long-term follow-up monitoring of individuals with Lhermitte-Duclos disease and Cowden disease may lead to the early detection of malignancy. ( info) |
5/95. Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. The name epidermal nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal nevus syndrome distinguished by the presence of a sebaceous nevus and a contralateral speckled lentiginous nevus of the papular type, associated with skeletal or neurological abnormalities. Three new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous nevus. The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity. ( info) |
6/95. Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. We describe a 28-year-old Japanese woman with phacomatosis pigmentovascularis type IIa who was treated by 27 sessions of Q-switched ruby laser irradiation to the site of dermal melanosis on her face and three sessions of dye laser irradiation to the port-wine stain on her left cheek. This is the first report of the successful treatment of a cutaneous lesion in a patient with phacomatosis pigmentovascularis. As the outcome of the treatments was excellent, we conclude that phacomatosis pigmentovascularis type IIa can be treated successfully by the combination of the two types of laser therapy. ( info) |
7/95. 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. ( info) |
| Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome, characterised by large or numerous congenital pigmented nevi and excessive proliferation of melanin-containing cells in the leptomeninges. We report the MR findings in the brain and spine of a child with NCM who underwent neurosurgical treatment and was followed up for 8 years. The findings in this child (small hyperintense collections of melanocytes in both temporal lobes, mild meningeal enhancement along the spine and the development of an extensive subarachnoid CSF accumulation with cord compression and syringomyelia) are believed to be exceptionally rare. ( info) |
9/95. Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes? The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes. ( info) |
10/95. Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report. The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome. An 8-year-old boy was admitted to the authors' hospital with progressive urinary disturbance and upper back pain. Multiple skin nevi had been noted at the child's birth. Radiological examination revealed multiple cavernous angiomas in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemisphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symptoms promptly improved. To the best of the authors' knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease. ( info) |