Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

MSAFP screening program has gradually become widespread. Prenatal diagnosis of fetal anomalies by means of the MSAFP level has become increasingly integrated into the routine components of obstetric management. During the period from June, 1990 through January, 1991, 516 pregnant women between 12 and 19 weeks' gestation participated in MSAFP screening and there were 532 MSAFP cases including repeat 16 cases for which follow-up data have been completed. 1. Of this population, 5 cases (0.9%) had increased MSAFP (> or = 2.5MOM). One case was IUFD, one case was twin, one case was Breus' mole, two cases had normal repeat MSAFP levels. Thirty-three cases (6.2%) had low MSAFP (0.5 < or = MOM). One abnormal karyotype (46,XY,16p+) was discovered among twenty-six cases by undergoing amniocentesis (3.8%). 2. Of the four hundred ninety-four cases (92.8%) with a normal MSAFP level, thirty-three (6.9%) had an adverse pregnant outcome. Eight cases were prematurity, eight cases were low birth weight infants, six cases were large-for-date infants, two cases were IUFD, one case was Klinefelter's syndrome, one case had cystic hygroma and one case was had a tracheo-esophageal fistula. 3. A woman with an extremely high MSAFP level, with normal ultrasonography and with normal amniocentesis results should be regarded as a high-risk pregnancy and need further close follow-up to detect placental abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical studies on maternal serum alpha-fetoprotein (MSAFP) of 532 cases--the median value, pregnancy outcomes and clinical evaluation]. 138 54

A patient with subdural hygroma in the perinatal period developed into a right hand sided spastic hemiplegia with epileptic seizures and intellectual deficit. On the age of 17 years a linear dermatosis that proved to be a naevus unislateris was remarked. The combination of linear nevi and neurological deficit is known as the epidermal nevus syndrome.
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PMID:Linear cutaneous lesions and neurological deficit. A case report. 632 76

We report the rare occurrence of a progressive fetal axillary cystic lymphangioma coexistent with an overlying naevus flammeus. The fetus at 22 weeks' gestation was found to have a 37 x 35 mm left axillary multiloculated mass without colour-flow imaging. Amniocentesis showed a normal 46,XX karyotype. Multiple fine-needle aspirations of the mass in the second and third trimesters obtained blood-stained chocolate-coloured fluid containing numerous erythrocytes and lymphocytes but proved ineffective in lessening the progressive growth of the mass. The mother underwent caesarean delivery and a healthy neonate was born with a 141 x 81 mm left axillary cystic lymphangioma and a 50 x 35 mm coexistent naevus flammeus. The neonate was well after simple excision of the lesions. Although cystic lymphangiomas arising in the axilla enlarge progressively during fetal life, our case suggests a good prognosis and except for genetic evaluation, no prenatal intervention is required.
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PMID:Progressive fetal axillary cystic lymphangioma with coexistent naevus flammeus. 903 4

Lymphangiomas are hamartomas which often occur during childhood. Their classification is primarily size dependent and predicts their clinical course. Larger lesions can be life threatening, but for many patients with lymphangiomas, cosmetic disfigurement is the primary concern. Treatment options are limited and have shown only variable success. Repetitive surgical excision may be necessary. We report a cystic lymphangioma of the axilla occurring in association with a Becker's nevus in an infant. Although Becker's nevi have been described in association with other hamartomas, primarily those of smooth muscle, an association with cystic lymphangioma has not been previously reported. We offer a brief discussion of possible developmental mechanisms for their coexistence. In our patient the simultaneous occurrence of a lymphangioma and a Becker's nevus appears to be a localized event, as no other developmental abnormalities are evident.
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PMID:Lymphangioma associated with Becker's nevus: a report of coincident hamartomas in a child. 933 10

A 5-year-old Mexican girl had a bilateral, systematized epidermal nevus of a non-epidermolytic, non-organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of adnexal structures. During infancy she developed seizures, and subsequently a delayed mental development was noted. Computer tomography of the brain revealed cortical and subcortical atrophy, a subdural hygroma in the left frontoparietotemporal region, and hypoplasia of corpus callosum. Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. The R248C mutation was also present in DNA extracted from blood leukocytes. Because FGFR3 is involved in the development of the central nervous system, the clinical and genetic findings of this case indicate a widespread mosaicism of the FGFR3 mutation. This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes.
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PMID:An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 1864 69

We present the case of a 9-year-old boy diagnosed with blue rubber bleb nevus syndrome, who showed a very large left cervical cystic lymphangioma. He was previously subjected to various treatments for lesions in the intestinal tract including blood transfusions for anemia, sclerosis, enterotomies or resections. The tumor was resected without any complications and the anatomopathologic report confirmed this diagnosis. The blue cavernous hemangioma syndrome (or blue rubber bleb nevus syndrome) is a rare disease characterized by cavernous angiomas involving the skin and gastrointestinal tract. Several cases of cystic lymphangiomas associated with this syndrome have been published recently and lymphomatous differentiation has been identified in the cells of cutaneous lesions. Given their common embryological origin, we underscore the importance of bearing in mind that it is possible for different types of vascular malformations to coexist in the same patient.
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PMID:Cervical cystic lymphangioma in a patient with blue rubber bleb nevus syndrome: clinical case report and review of the literature. 2103 9