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)

Multiple endocrine neoplasia type 1 (MEN1), the heritable tendency to develop tumors of the parathyroid, pituitary, and entero-pancreatic endocrine tissues, is the consequence of a germline mutation in the MEN1 gene. Endocrine tumors in these patients result when the mutant MEN1 allele is accompanied by loss of the normal MEN1 allele. Recently it was reported that MEN1 patients also exhibit several cutaneous tumors, including multiple angiofibromas, collagenomas, and lipomas. The purpose of this study was to examine skin lesions from patients with MEN1 for allelic loss of the MEN1 gene. Skin lesions from five patients with MEN1 were examined using fluorescence in situ hybridization. Six angiofibromas, three collagenomas, and one lipoma showed allelic deletion of the MEN1 gene. Allelic deletion was not observed in a melanocytic nevus or acrochordon from patients with MEN1. It was also not observed in an angiofibroma from a patient with tuberous sclerosis. These results suggest that loss of function of the wild-type MEN1 gene product plays a role in the development of angiofibromas, collagenomas, and lipomas in patients with MEN1.
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PMID:Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. 954 Sep 88

A case of phacomatosis pigmentovascularis (PPV) in a 6-year-old girl with Sturge-Weber syndrome, pyogenic granuloma, and other complications is described. It is relatively rare that a complete form of Sturge-Weber syndrome was associated with PPV. A review of the literature on PPV, focusing on total number of reported cases and etiological speculations, is presented. To our knowledge, a total of 118 cases of PPV, including the present one, have been reported to date. Regardless of many speculations, the true etiology remains unknown. The average "density" of mast cells (MCs) per mm2 appearing in the central region of the pyogenic granuloma was calculated to be 86.3/mm2 and that in the adjacent nevus flammeus was 37.9/mm2. The "density" of mast cells in pyogenic granuloma separately calculated from ten other cases was 105.5 +/- 28.6/mm2 (mean +/- SD), compared with that in normal skin, 6.85 +/- 4.9/mm2 (n = 20). There was a significant difference between the two, indicating that MCs are closely associated with angiogenesis in pyogenic granuloma.
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PMID:Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. 986 85

We report a case of a congenital nevus sebaceus with numerous brown macules and papules in the left auricular region. In the same lesion, pigmented basal cell carcinomas developed later in life. Additionally, on the left side of the neck, both shoulders and the left arm, features of nevus spilus with melanocytic and blue nevi were present. Such a combination of nevus sebaceus with melanocytic lesions may be explained by the concept of twin spotting and represent another case of phacomatosis pigmentokeratotica.
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PMID:Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. 987 78

Phacomatosis pigmentovascularis (PPV) is described as the association of cutaneous vascular malformations and different pigmentary disorders. The different associations are classified into four types, with localized and systemic forms. The constant alteration in each type is a nevus flammeus. Associated pigmented abnormalities are nevus pigmentosus and verrucosus in type I, blue spots in type II, nevus spilus in type III, blue spots and nevus spilus in type IV. Type II is the most frequently reported. In this type, half of the patients have visceral involvement, more often Klippel-Trenaunay or/and Sturge-Weber syndrome. We report two cases of phacomatosis pigmentovascularis type II. The particularity of the first case is the association with a cranio-cervical junction malformation (Arnold-Chiari type I), which to our knowledge, has never been described with PPV. The second case presents with a bilateral scleral melanosis without visceral involvement. Definition of visceral involvement and ophthalmologic manifestations are discussed.
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PMID:Phacomatosis pigmentovascularis type II. 988 30

This article describes the formation of apparent twin spots presumed to be caused by a specific form of somatic recombination. Twin spots consist of two genetically different clones of neighboring cells in a background of normal cells. The phenomenon is well known in plants and animals and is used as a marker to evaluate the recombinogenic activity of chemicals. The equivalent of the twin spot phenomenon in humans has only been described recently. We now give a review on a number of paired skin disorders possibly caused by the mechanism of twin spotting. They include vascular twin nevi, phacomatosis pigmentovascularis, phacomatosis pigmentokeratotica, Proteus syndrome, and cutis tricolor. Clinicians will probably spot other nevoid skin lesions occurring in close proximity to each other, which might be explained by the twin spot phenomenon.
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PMID:Concept of twin spotting. 1039 59

Neurofibromatosis and tuberous sclerosis are the most well-recognized of the congential phakomatoses, a group of six hereditary neuro-oculo-cutaneous disorders. Although easily diagnosed at birth by a parasagittal line of facial sebaceous naevi, the linear naevus sebaceous syndrome (LNSS) of Jadassohn is the rarest phakomatosis, one often characterized by airway and anaesthetic considerations that do not apply to the other phakomatoses. In addition to its obvious cutaneous manifestations, LNSS is characterized by hemifacial asymmetry, an anatomic predictor of difficult trachael intubation, and intractable seizure activity, a condition that limits selection of anaesthetics. The perioperative management challenges of LNSS are depicted in the presentation of two cases of LNSS with different outcomes and contrasted with the major anaesthetic considerations in the perioperative management of other, more common phakomatoses.
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PMID:Perioperative management of infants with the linear naevus sebaceous syndrome of Jadassohn: a report of two cases. 1111 2

The nevus sebaceus syndrome (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling seizures. Despite the proneness of the dermal stigmata to eventually undergo neoplastic transformation, the malformative lesions of the central nervous system rarely evolve into frank tumors. We present the case of a 10-year-old girl with left-sided sebaceus nevi, ipsilateral enlargement of the skull, and a desmoplastic neuroepithelial tumor (DNET) in the right fronto-parietal area of the brain. The tumor was removed by surgery. Histologically, it corresponded to a mitotically active small-cell anaplastic astrocytoma with genuine desmoplasia. Investigative methods included immunohistochemical positivity for glial fibrillary acidic protein, lack of expression of neuronal markers, and ultrastructural documentation of sheaths of basal lamina and collagen around tumor cells. A survey of the literature of brain tumors associated with NSS revealed two cases of histologically verified pilocytic astrocytomas, and one each of a choroid plexus papilloma, a mixed glioma, and a meningioma, as well as a subependymal giant cell astrocytoma--the latter possibly in an overlap syndrome of NSS and tuberous sclerosis. We hypothesize that the tumor described herein, one involving both atypical differentiation and enhanced growth potential, is paradigmatic of neuropathological events to be expected in the NSS.
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PMID:Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature. 1135 15

Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various neurological abnormalities incompatible with Schimmelpenning syndrome, such as hyperhidrosis, muscular weakness and dysesthesia. This second component of phacomatosis pigmentokeratotica may likewise occur separately. For the association of speckled lentiginous nevus with hyperhidrosis, muscular weakness, dysesthesia or other neurological abnormalities, the term "speckled lentiginous nevus syndrome" is proposed. Some case reports that may be categorized as examples of this new syndrome are reviewed. The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype.
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PMID:Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. 1187 7

Here, we report on a 64-year-old-woman with nevi flammei affecting two contralateral quadrants, venous insufficiency of the right leg, and asymmetry of the arms, in association with a linear nevus depigmentosus. This combination of vascular and pigmentary abnormalities may represent a novel type of phacomatosis pigmentovascularis caused by non-allelic twin-spotting.
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PMID:Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? 1274 70

The medical indications for laser therapy have been somewhat overlooked, perhaps because of the success of cosmetic laser therapy. As a result, many effective medical treatments are not covered by insurance companies. Lasers are helpful in many aspects of dermatologic treatment. Examples include pigmented lesions (Becker nevus), benign tumors (organoid nevi, adenoma sebaceum), dyschromias (traumatic tattoos), inflammatory diseases of the skin and subcutaneous tissue (lupus erythematosus, scars), hypertrichosis, premalignant lesions, and vascular lesions (hemangiomas and malformations). The various disorders which can effectively be treated with lasers are reviewed.
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PMID:[Medical dermatologic laser therapy. A review]. 1283 61


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