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 on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated finger-like tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed.
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PMID:Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect. 774 52

The dysplastic nevus, both the sporadic and familial type, has a significant association with melanoma of the skin. The congenital nevus, which ranges in size from less than 1 cm to a giant hairy nevus, are treated primarily for aesthetic reasons and, in the giant variety, are also treated as a prophylaxis against the possibility of malignant change.
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PMID:Dysplastic and congenital nevi. 842 Jul

Primary malignant melanoma of the leptomeninges of the central nervous system is a rare and aggressive tumor in children. We report our experience from 1964 to 1990 with this tumor in eight children. The mean age at diagnosis was 4.9 years (range, 1.3 to 13 yr). Five children presented with signs and symptoms of raised intracranial pressure from hydrocephalus secondary to tumoral obliteration of the basal cisterns, but the time from the initial symptomatology to diagnosis was frequently delayed. Three patients in this series had hairy nevi in association with their leptomeningeal melanoma. Cerebrospinal fluid (CSF) analysis typically showed raised opening pressures, decreased glucose, and increased protein concentrations. Malignant melanoma cells were found in the CSF in three patients. Confirmatory radiographic examinations included air encephalography, myelography, and computed tomographic and magnetic resonance scanning. Four patients were treated with lumboperitoneal shunts, and one patient was treated with a ventriculoperitoneal shunt for hydrocephalus. Two patients underwent craniotomies and subtotal excisions of their tumors. In seven patients, a definitive diagnosis of leptomeningeal melanoma was made by pathological examination of tissues sent at surgery or at post mortem. In one case, the diagnosis was established by a detailed cytological analysis of the CSF. Four children died of fulminant disease and tumor spread before treatment could be instituted. The four children who received treatment had a combination of radiation therapy and chemotherapy. One child received intrathecal methotrexate. The two children with the longest survivals (2 and 3 yr, respectively) received cisplatinum and dimethyltriazenoimidazole carboxamide in addition to craniospinal irradiation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Primary leptomeningeal melanoma: an unusually aggressive tumor in childhood. 849 46

We report our experience of tissue expansion for removal of skin tumors in 62 patients treated between 1985 and 1991. Thirty-nine complete and 23 partial excisions were performed. Major complications with complete failure occurred in 3 percent of the cases, and minor complications in 10 percent. Skin expansion constitutes a considerable advance in the treatment of benign skin tumors as it reduces the risk of permanent scars and provides a skin that is normal in both quality and colour. In cases where the tumor cannot be entirely removed in one step (e.g. giant hairy naevus, haemolymphangioma) expansion brings quality skin within the most visible areas, enabling complete excisions by re-expansion or skin graft to be contemplated.
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PMID:[Treatment of skin lesions. Contribution of tissue expansion]. 850 43

Interest in day-care surgery is on the increase world-wide, with various surgical specialties embracing this mode of health service. In a period of 5 years (January 1989-December 1993), 286 patients attending a Plastic Surgical Unit were operated on a day care basis. This represented 22.7% of all cases done within the period. The most frequently performed procedure was keloid excision and suture/flap cover (29.7%) followed by inguinal hemiorrhaphy (10.8%) ganglionectomy (8%), excision of lipoma (8%), scar revision (5.2%), suture of skin lacerations (4.5%), breast lumps biopsy (5.9), release, grafting or plasty of flexion deformity of fingers (3.4%). Other problems dealt with on day care basis included repair of human bite losses of face (3.2%); Excision of gynaccomastia (3.1%) umbilical hernia repair (2.4%); breast augmentation with implant 0.3%. Excision of planter wart, hairy naevus, chronic neck folliculitis, sebaceous cyst, dermoid cyst and polydactylism constituted the rest of problems dealt with as day cases. Readmission represents failure of day care surgery and constituted 2.4% of all cases. This was due mainly to social factors and bleeding at home. Significant wound breakdown occurred in 0.69% of cases. We conclude that day care plastic surgery in our subregion is safe and effective.
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PMID:Scope and problems of day-care surgery in a plastic surgical unit. 902 Jun 4

The skin of macroscopically distinct regions (hairy skin, vibrissal fields, buccal ridge, and rhinarium) of the head of the blind mole-rat, Spalax ehrenbergi, was studied by routine histological methods. Few guard and several soft vellus hairs are organized into tufts that grow from a group of hair follicles localized in an invaginated compound cavity. We suggest that this hair arrangement may be a burrowing adaptation to match frictional resistance. The follicles and the compound cavity possess either well developed complex striated musculature or errector pili muscles. There are no structural specializations (sweat glands, glomus bodies) to enhance thermoregulatory (heat dissipative) capacities in the hairy skin of the head. Vibrissae penetrate the epidermal surface as single hairs. They are microscopically normally developed and arranged in vibrissal fields according to a basal mammalian pattern. Most of them are, however, relatively short and inconspicuous. The mystacial vibrissal field is horizontally divided by a prominent buccal ridge which is probably involved in bulldozing. The hairs in the ridge leave the compound cavity singularly. The follicles of guard hairs and bristles are equipped with well developed pilo-Ruffini complexes indicating that the buccal ridge may serve also as a tactile organ. The glabrous skin of the rhinarium has a highly interdigitated dermal-epidermal interface. The dermal papillae possess simple lamellated and/or simple Meissner's corpuscles and few Merkel cell-axon-complexes indicating that the skin of the rhinarium may be particularly sensitive to perception of vibrations.
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PMID:Adaptive differentiations of the skin of the head in a subterranean rodent, Spalax ehrenbergi. 918 54

A 65-year-old female with congenital giant, hairy and pigmented nevus developed sudden onset of headache and consciousness disturbance. CT scan revealed a high density mass in the right temporal subcortical region. The high density area suggested hematoma. A right temporal craniotomy was performed. Hemorrhage was observed in a black colored tumor. Histologically, the tumor was malignant melanoma, while the skin tumor was benign intradermal nevi. This patient was diagnosed as neurocutaneous melanosis. Neurocutaneous melanosis belongs to unusual congenital syndrome, and an adult case is very rare. To our knowledge this is the oldest patient to be reported with this disease.
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PMID:Neurocutaneous melanosis with intracranial malignant melanoma in an adult: a case report. 930 Apr 51

Radiotherapy was founded as a new scientific specialty by the Viennese physician Leopold Freund 100 years ago. Freund provided the world's first scientific proof of the biological effectiveness of x-rays and performed the first successful treatment with these new rays on a 5-year old girl suffering from a huge nevus pigmentosus pilosus (hairy nevus) on her back. Before Freund's historical three experimental x-ray treatments (the first of these began on November 24, 1896, in Vienna) there had been earlier attempts and suggestions to apply x-rays therapeutically during 1896. However, none of these previous therapeutic attempts was successful. Also, there was no scientific proof of the biological effectiveness of x-rays among the therapeutic attempts which preceded Freund's fundamental x-ray treatments. Modern radiotherapy and radiation oncology contribute towards nearly one half of all cancer cures. Two thirds of cancer patients need the help of radiation oncology, and this scientific specialty is, thus, the most frequently used treatment modality in the management of tumor patients.
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PMID:[100 years radiotherapy. On the birth of a new specialty]. 962 22

A 15 year-old girl presented with numerous congenital melanocytic nevi, occasionally hairy, with a segmental distribution at the left pre-auricular region. On the left side of the back of the neck there were multiple melanocytic nevi with a warty appearance, which had started to appear when she was 5 and which had remained stable from the time she was 10. These lesions had a distribution reminiscent of an epidermal nevus with a pattern similar to Blaschko's lines. On general physical examination there was a moderate degree of idiopathic scoliosis, with a left lumbar curvature. Biopsies were taken from both types of nevus which were diagnosed as congenital compound melanocytic nevus and acquired compound melanocytic nevus respectively. We consider that the segmental distribution of the melanocytic nevi of this patient supports the theory that a genetic defect determined the appearance of both these congenital and acquired lesions.
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PMID:Segmental arrangement of multiple, partly congenital and partly acquired melanocytic nevi. 964 18

We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.
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PMID:Epidermal nevi and localized cranial defects. 1009 94


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