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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Naevus superficialis lipomatosus (NSL) is a rare malformation consisting of multiple or solitary papules usually occurring on the lower trunk or gluteal regions. In this study the clinical features of twenty new cases are described with a detailed account of the histopathology. Notable were the marked variability in the amount of ectopic fat found in the lesions, and the presence of associated abnormalities of the connective tissue, the vessels, and the skin appendages. In early lesions, mononuclear cells differentiating into lipoblasts could be identified around proliferating capillaries. Two clinical types were distinguished. First, the classical type (7 cases) consisting of multiple lesions occurring in a zonal distribution, and secondly the solitary papule or nodule (13 cases). The latter type can be difficult to distinguish from a skin tag with fatty herniation.
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PMID:Naevus superficialis lipomatosus. A clinicopathological report of twenty cases. 123 80

The health status of 325 oil shale workers employed at the Anvil Points, Colorado, demonstration facility from 1948 to 1969 was evaluated. As a comparison population, 323 Utah coal miners frequency matched for age were studied. The prevalence of respiratory symptoms among oil shale workers who smoked were similar to the coal miners who smoked, although nonsmoking oil shale workers had fewer symptoms compared to nonsmoking coal workers. Four cases of skin cancers were found on the oil shale workers and eight cases in the controls. Similar numbers of nevi, telangiectasiae, possible pitch warts, pigment changes (solar/senile lentigo), and papillomata (seborrheic keratoses and skin tags) were seen in both groups, while actinic keratoses were more frequent in the oil shale workers. The prevalence of actinic keratoses was significantly associated with oil shale work after allowing for age, sun exposure, and other exposures. The prevalence of pulmonary cytology metaplasia was associated with years of production work in oil shale among both smokers and exsmokers. More of the oil shale workers had atypical cells in the urine, but the excess was mostly found among exsmokers. Although these workers had short-term and limited oil shale exposure work exposure, we recommend that medical surveillance of oil shale workers consider the skin, respiratory, and urinary systems for special observation.
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PMID:Morbidity survey of U.S. oil shale workers employed during 1948-1969. 399 19

Early treatment of occult spinal dysraphism may prevent progressive neurological deficits. However, diagnosis is often delayed until the onset of irreversible neurological damage. A review of data from the literature and patients at Johns Hopkins Hospital suggests that lumbosacral skin abnormalities such as tufts of hair, hemangiomas, lipomas, skin tags, or pigmented nevi should alert the physician to search for occult spinal dysraphism. In the asymptomatic patient with a skin lesion, roentgenography of the lumbosacral spine is a useful screening procedure for identifying treatable underlying problems.
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PMID:Lumbosacral skin lesions as markers of occult spinal dysraphism. 702 22

Two unusual sacrococcygeal neuroepithelial heterotopias manifested as masses associated with cutaneous signs. In a 13-month-old infant, a cystic coccygeal medullary vestige was associated with a midline epidermal nevus. In another patient, a lipomeningocele with neuroepithelial heterotopia manifested as a skin tag and mass in the right buttock. In both cases, the malformations probably resulted from abnormal canalization and retrograde differentiation of the distal neural tube. Cystic coccygeal medullary vestige results from dilation of a persistent ependymal cyst present commonly in neonates at the distal part of the coccyx. The lipomeningocele appears to have arisen from an aberrantly formed ependymal canal. The embryologic events that gave rise to the lesions, the differential diagnosis of postrectal masses, and the common association of midline lesions of skin and soft tissue with neural defects are stressed.
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PMID:Unusual sacrococcygeal embryologic malformations with cutaneous manifestations. 711 65

Uveal melanoma usually occurs sporadically in the absence of obvious genetic predisposing factors. However, in rare patients, there is a suggestion that there may be genetic predisposition. Rare occurrences of familial uveal melanoma are believed to be inherited in an autosomal dominant mode. There are a few clinical conditions that can predispose to or be associated with uveal melanoma, including ocular melanocytosis, neurofibromatosis type I, and familial atypical mole and melanoma syndrome. Nonrandom cytogenetic changes in uveal melanoma are characterized by monosomy 3, trisomy 8, and structural or numerical abnormalities of chromosome 6. Alterations of chromosome 9p are less frequently observed. CDKN2 gene, a cutaneous melanoma predisposition gene, is probably not a uveal melanoma predisposition gene as evidenced by the lack of somatic mutations involving this gene in uveal melanoma samples and the absence of germline mutations in familial uveal melanoma patients. Transgenic mouse models developed using a tyrosinase promoter tagged with a mutated ras gene or SV40-Tag oncoprotein develop retinal pigment epithelium tumors that resemble uveal melanoma. We propose that uveal melanoma cases be categorized on genetic basis according to a new classification system. This classification scheme will help to identify and uniformly categorize uveal melanoma patients with genetic predisposition. Such patients offer unique opportunities for studying the genetic aspects of uveal melanoma and, therefore, appropriate tissue samples should be obtained from them for molecular genetic studies. Further studies are needed to fully understand the genetic aspects of uveal melanoma.
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PMID:Genetic aspects of uveal melanoma: a brief review. 897 Jun 1

Near-infrared Fourier transform Raman spectroscopy is an analytical, nondestructive technique that provides information about the molecular structure of the investigated sample. The molecular structure of proteins and lipids differ between neoplastic and normal tissues and therefore Raman spectroscopy has been considered promising for the diagnosis of cancer. We aimed to compare the molecular structure of normal skin, benign and malignant skin lesions by the near-infrared Fourier transform Raman spectroscopy. Biopsies were obtained from the following skin lesions: skin tag, dermatofibroma, seborrhoeic keratosis, actinic keratosis, keratoacanthoma, basal cell carcinoma, squamous cell carcinoma, nevus intradermalis, nevus compositus, dysplastic nevus and lentigo maligna. Control skin was harvested from the vicinity of these lesions. In the Raman spectra, the secondary structure of the proteins was reflected by the amide vibrations of peptide bonds. The principal lipid vibrations were twisting and wagging (CH2) and CH stretching vibrations. Histologically distinguishable lesions showed specific combinations of band changes indicating alterations in the protein conformation and in the molecular structure of the lipids. Histogenetically related lesions (actinic keratosis and sqamous cell carcinoma) produced similar but not identical patterns of spectral changes. Because the examined skin lesions produced reproducible and unique spectra, we suggest that Raman spectroscopy will be useful for diagnosis of skin lesions.
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PMID:Distinctive molecular abnormalities in benign and malignant skin lesions: studies by Raman spectroscopy. 933 12

We present the case of a 9-year-old girl with a perianal skin tag. This asymptomatic lesion was removed for cosmetic reasons and demonstrated a polypoid lesion with a slightly acanthotic epidermis. The dermis was filled with mature-appearing eccrine ducts and glands but with no other cutaneous appendages, adipocytes, or abnormal vascularity. We believe this to represent a polypoid eccrine nevus and that its presentation is unique.
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PMID:Eccrine nevus presenting as a perianal skin tag: a case report and review of the literature. 1214 20

This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.
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PMID:A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. 1214 19

Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations in an X-linked gene. Its main features include of a triad of infantile spasms, agenesis of the corpus callosum, and distinctive chorioretinal lacunae. Additional common findings include moderate to profound mental retardation, gray matter heterotopia, gyral anomalies, and vertebral and rib defects. To date, no consistent facial dysmorphisms have been described. We examined 40 girls with Aicardi syndrome and determined that consistent facial features appeared in over half the study participants and included a prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. Externally apparent microphthalmia was seen in 10/40 (25%). Various skin lesions (including multiple nevi, skin tags, hemangiomas, one giant melanotic nevus, and a history of a previously removed angiosarcoma) were present in 8/40 (20%). Hand abnormalities were seen in 3/40 (7.5%) and included camptodactyly, proximal placement of the thumb and hypoplasia of the fifth finger. This study clearly delineates the existence of a distinctive facial phenotype of Aicardi syndrome not previously described. We recommend that features of a prominent premaxilla with upturned nasal tip and vascular malformations/vascular tumors be added to the modified diagnostic criteria in order to improve the ability of geneticists to diagnose Aicardi syndrome.
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PMID:Facial and physical features of Aicardi syndrome: infants to teenagers. 1615 40

We report organoid nevus with left oculo-orbital choristoma fixing the globe in hypotropia, precanthal skin tag, and upper eyelid coloboma and right limbal dermoid. Computed tomography revealed a dilated lateral ventricle and cerebral atrophy. No neurologic deficit existed. The coloboma was repaired, choristoma debulked, and precanthal tag excised.
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PMID:Atypical oculo-orbital complex choristoma in organoid nevus syndrome. 1659 83


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