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)

We report a case of primary orbital melanoma in a 17-year-old girl. The patient presented with painless proptosis during the first trimester of pregnancy. Computed tomography demonstrated a well-circumscribed mass located infra-temporally in the right orbit. The tumor was bluish-black, grossly encapsulated, and associated with orbital blue nevi. Histologic examination of the mass revealed a pigmented spindle-cell neoplasm. On electron microscopy, the presence of premelanosomes and the absence of basal lamina supported the diagnosis of melanoma. Malignant transformation of a preexisting nevus is postulated since perineural foci of benign dendritic melanocytes were seen within the melanoma. There has been no recurrence or metastasis in a 2-year follow-up. Of 30 primary orbital melanomas reviewed, 12 (40%) were associated with periorbital pigmentary disorders, such as oculodermal melanocytosis, blue nevus, and ocular melanocytosis. Our case is unique since the pigmentary lesions were limited to the orbital tissues.
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PMID:Primary orbital melanoma associated with orbital melanocytosis. 238 3

Proptosis and ptosis, caused by a large orbital mass that was excised and determined to be malignant melanoma, developed in a 4-year-old girl with congenital neurocutaneous melanosis (multiple large or giant cutaneous nevi associated with abnormal leptomeningeal pigmentation). Shortly thereafter, the patient had evidence suggestive of systemic metastases and died. The orbital tumor was likely metastatic from a primary meningeal melanoma. Other possible sources of metastatic tumor are discussed. It is unlikely that this was a primary orbital melanoma because the patient had no clinical or pathologic manifestations of pre-existing oculocutaneous melanosis, orbital melanosis, or orbital blue nevus.
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PMID:Congenital neurocutaneous melanosis with metastatic orbital malignant melanoma. 380 23

Recent progress in plastic surgery has been rapid and many new techniques have been developed. Reconstructive procedures have been advanced by a better understanding of the anatomy of the blood supply to skin and muscle, with the subsequent development of the use of axial flaps, musculocutaneous flaps and neurosensory flaps. Burn treatment has advanced greatly, making it possible to successfully treat larger and more complicated burns. The development of microsurgery has made possible free-flap transfer and replantation of amputated parts. Advances in surgical procedures on the hands include a realization that primary repair of lacerated tendons and nerves will give good results. Replacement joints have been developed that can be used in hands for joints destroyed by arthritis or trauma. Craniofacial surgery is a new field of endeavor in plastic surgery, involving new techniques that can be used to treat exophthalmos of Graves' disease and the facial deformities resulting from gigantism and acromegaly. Head and neck procedures have advanced, with the emphasis on immediate reconstruction using new flaps. Techniques for treating cleft lip and palate have been refined. Encouraging results have been reported in the treatment of nevus flammeus with argon lasers. In aesthetic surgical procedures, the aim is for safety and consistent long-lasting results. Improved understanding of the physiology and treatment of radionecrosis has evolved.
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PMID:Advances in plastic surgery. 707 37

A 71-year-old woman with the blue rubber bleb naevus syndrome experienced 4 episodes of self-limiting unilateral exophthalmos. Is is suggested that a vascular malformation in the orbit is responsible for this phenomenon. A biopsy sample was taken of one of the cutaneous lesions and studied by light and transmission electron microscopy. The histological appearances are discussed in relation to possible mechanisms causing this periodic exophthalmos.
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PMID:Periodic exophthalmos associated with the blue rubber bleb naevus syndrome: a case report. 710 80

The naevus of Ota is a congenital pigmentary disorder usually involving the skin of the face in areas supplied by the first and second branches of the trigeminal nerve. Ipsilateral ocular melanosis is associated in 2/3 of the cases. The naevus occurrs most often in Asians. There have been 66 reported cases of malignant transformation of the naevus of Ota, generally affecting caucasians: 23 were melanomas of the eyeball (mostly of the choroid), and 13 were orbital melanomas. Only 4 cases of melanomas associated with a naevus of Ota without ocular melanosis have been previously described. We report a new case of orbital melanoma affecting a 30-year-old man. This melanoma complicated a right type III of Tanino naevus of Ota without ocular melanosis. The location of the tumor to the orbital apex and its extension to the spheno-cavernous area was responsible for an ipsilateral loss of vision without proptosis, which has not yet been described in any case of naevus of Ota without ocular melanosis.
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PMID:[Melanoma developped on nevus of Ota without ocular melanosis. Apropos of an anatomo-clinical case]. 876 10

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

Cancer in a young child is unusual and has always aroused curiosity. Proptosis and an enormous, rapidly growing unilateral tumor in a 3-year-old boy prompted Pieter Pauw (1564-1617), a 16th-century anatomist, to perform an autopsy. His published notes from the autopsy were rediscovered in the 19th century, first by the German ophthalmologist and historian Julius Hirschberg and then by Edwin B. Dunphy, from Boston, Mass, who suggested that the child suffered from retinoblastoma, an interpretation that has held sway. Critical translation of the original Latin text suggests that an orbital tumor, such as embryonal rhabdomyosarcoma, would equally well explain Pauw's observations. His description also gives insight into the concept of a mole as a congenital as well as an intrauterine tumor in Renaissance medicine.
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PMID:Pieter Pauw's tumor oculorum: reappraisal of the presumed first description of retinoblastoma in 1597. 1279 62

We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive. We also update the clinical outcome of the patients reported in the original article by Bohring et al. [Am J Med Genet 85:438-446] and critically review the subsequently published cases considered to have Bohring-Opitz syndrome.
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PMID:New cases of Bohring-Opitz syndrome, update, and critical review of the literature. 1040 39

Bohring-Opitz syndrome is a rare genetic condition of uncertain inheritance. It was first delineated by Bohring and coworkers in 1999 and up to 15 possible cases have been reported. It has both ophthalmic and systemic features and represents a unique syndrome considered to be distinct from Opitz C trigonocephaly syndrome. The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant neurodevelopmental delay. We report a child with Bohring-Opitz syndrome and infantile high myopia. Bohring's original description of the phenotype did not include myopia but since then both this case and two others have reported this association. The presence of high myopia may be helpful in identifying suitable candidate genes and elucidating the genetic mechanism, as well as alerting ophthalmologists to the importance of refraction for affected children.
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PMID:Infantile high myopia in Bohring-Opitz syndrome. 1749 85

The authors report a rare case of primary orbital melanoma (POM) combined with giant divided nevus of the eyelid. An 8-year-old Chinese girl is referred for evaluation of 2-month duration of exophthalmos with decreased vision, epiphora, and pain on her right eye. His presentation, imaging, biopsy, histopathology, and management are presented. The possible cellular origin of the POM and the relationship of POM and divided nevus are discussed. We presume that divided nevus may be one of rarely preexisting lesions of POM.
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PMID:Primary orbital melanoma combined with giant divided nevus of the eyelid. 2440 1


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