Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Carcinoma, usually always squamous cell carcinoma, is one of the most serious complications in epidermolysis bullosa dystrophica. It can occur on the skin, mucous membranes, the esophagus and possibly the upper part of the bronchial tree. We are reporting on four new patients; one, the youngest to be so reported, one with a definite autosomal dominant inheritance and one with a chronic acquired dystrophica epidermolysis bullosa. Most cases have an autosomal recessive inheritance, but the disorder is probably more hetereogeneous in its inheritance than has been reported. Studies of the collagen indicate a disturbance, but present studies indicate the defect to be more a cellular defect in the fibroblast yet undetermined. The carcinomas, usually multiple, appear to arise on scarred tissue and to metastasize rapidly with death.
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PMID:Epidermal neoplasms with epidermolysis bullosa dystrophica with the first report of carcinoma with the acquired type. 17 30

Epidermolysis bullosa, a rare genodermatosis, is characterized by increased skin fragility manifest as blistering and sometimes accompanied by scarring. The latter is particularly severe in the recessive dystrophic variant and may be complicated by the development of squamous carcinoma in up to 30% of patients. We have studied 23 such tumours in six patients with this variant, with an anti-serum to p53 protein. Twenty-six per cent of the squamous carcinomas labelled positively for mutant-type p53 protein. This low figure, however, reflects the large number of well-differentiated tumours in this series, where 14 out of 15 were negative. In the moderate to poorly differentiated examples the positivity rate was 63%. Of the three patients in the latter category, one has died from disseminated tumour and another has widespread metastases. The findings support the hypothesis that mutant p53 protein expression correlates with poorer tumour differentiation. They also suggest a possible correlation between p53 protein expression and tumour behaviour.
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PMID:Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa. 156 10

Epidermolysis bullosa (EB) refers to a group of hereditary mechano-bullous conditions, many of which are associated with chronic scarring. Several forms of the disease have been reported in association with cutaneous malignancy. We present a series of 10 EB patients (eight generalised recessive dystrophic EB, one dominant dystrophic EB, one non-lethal junctional EB) aged 24-55 years with a total of 29 squamous cell carcinomas (SCC). Three patients died from metastatic disease associated with invasive, poorly differentiated SCC. Six cases had multiple primary SCC, including three patients with simultaneous multifocal disease. Twenty-eight of the 29 SCC arose on the limbs. Histology revealed that most of the SCC were well or moderately differentiated (22/29). Unusual histological findings included two verrucous SCC, as well as a spindle cell (angiosarcoma-like) SCC. Most of the SCC developed in areas of chronic non-healing ulceration (10/29) or longstanding hyperkeratotic crusting (14/29). The dermis around or beneath the carcinomas was densely scarred, more so than in non-malignant areas. In some cases it was difficult to distinguish the clinical appearances of certain areas of chronic ulceration, scarring, and crusting typical of dystrophic EB from many of the SCC. This study underlines the need for constant vigilance for the development of carcinomas in this group of patients, the occasional diagnostic difficulty, and the potential for metastasis.
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PMID:Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. 159 67

We report a patient with generalized recessive dystrophic epidermolysis bullosa (RDEB) who developed 3 squamous cell carcinomas. The tumours appeared simultaneously at acral sites on both upper limbs and were poorly differentiated. Despite surgery and radiotherapy the patient died from metastatic disease within 6 months of presentation. This case highlights many of the typical features of this complication of RDEB, including the overall poor prognosis. Of particular interest was the histology of one of the tumours which caused diagnostic difficulties: haematoxylin and eosin staining suggested an angiosarcomatous pathology, but the use of immunocytochemistry proved that the tumour was a squamous cell carcinoma in origin.
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PMID:Metastatic squamous cell carcinoma resembling angiosarcoma complicating dystrophic epidermolysis bullosa. 188 60

Bazex syndrome (acrokeratosis paraneoplastica) is characterized by a psoriasiform eruption that favors acral sites and has been associated with an underlying malignancy in all reported cases. Of the 93 patients in this series, 89 were male with a mean age of 60 +/- 8.5 years. Squamous cell carcinomas of the head and neck and squamous cell tumors of unknown primary with cervical lymph node metastases were the most commonly associated neoplasms, suggesting that the factor(s) responsible for the development of the syndrome are relatively specific for tumors of the upper aerodigestive tract. The cutaneous lesions were erythematous to violaceous in color and had associated scale; the most frequently observed sites of involvement were the ears, nose, hands, and feet, including the nails. In 63% of the cases, the cutaneous lesions preceded the initial symptoms or diagnosis of the tumor by an average of 11 months (range, 1-72) and, in general, the eruption was resistant to a variety of topical treatments. Occasionally, a reappearance of the papulosquamous lesions signaled the recurrence of the tumor (6 cases) or the appearance of skin lesions coincided with the development of metastatic disease (3 cases). In 91% (64/70) of the patients, the skin eruption either improved significantly following treatment of the underlying malignancy or did not improve in the setting of persistent tumor. However, even when all of the skin lesions cleared, the nail dystrophy often persisted. Fifteen of the patients developed vesicles, bullae, and crusts in addition to papulosquamous lesions. Possible explanations include the formation of an epidermal-dermal split via a bullous lichen planus-like mechanism, or the coexistence of two diseases; i.e., acrokeratosis paraneoplastica plus either porphyria cutanea tarda, bullous pemphigoid, or epidermolysis bullosa acquisita. One possible explanation for the development of the characteristic cutaneous eruption is an immune reaction, humoral or cellular, directed against a common antigen present on the tumor and the normal skin. Alternatively, tumor production of a keratinocyte growth factor such as TGF-alpha may be involved in the induction of the psoriasiform skin lesions.
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PMID:Bazex syndrome (acrokeratosis paraneoplastica). An analytic review. 206 11

Dystrophic epidermolysis bullosa is associated with a high incidence of cutaneous squamous cell carcinoma. Despite aggressive surgical treatment, metastases occur frequently, and survival is generally poor. Chemotherapy for advanced disease has usually been avoided because of the potential for severe cutaneous toxicity. Two patients with autosomal recessive dystrophic epidermolysis bullosa and advanced squamous cell carcinoma are described. Both received cisplatin-based systemic chemotherapy without significant toxicity.
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PMID:Squamous cell carcinoma in epidermolysis bullosa. Treatment with systemic chemotherapy. 220 57

An osteogenic sarcoma of the tibia occurred in an eight-year-old boy with epidermolysis bullosa dystrophica hereditaria (EBDH) (Hallopeau-Siemens type). The patient had had the congenital skin disease since the time of birth. A painful swelling appeared in the proximal portion of his right tibia, which was diagnosed as osteogenic sarcoma on biopsy study. The patient died of massive pulmonary metastases and cachexia four months after the onset of the tumor. Osteogenic sarcoma in a patient with EBDH seems not to have been previously reported. EBDH has been known to be occasionally associated with squamous cell carcinoma. Whether an impairment of the patient's defense mechanism by the chronic skin disease might have enhanced the rapid progression of the associated bone malignancy is unknown.
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PMID:Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica. 342 8

The recessive form of dystrophic epidermolysis bullosa (RDEB) is associated with severe hand deformities characterized by cocooning pseudopolysyndactyly, recurrent ulceration, fibrosis, and adduction contracture of the thumb. In addition, RDEB is associated with an aggressive form of squamous carcinoma, notable for rapid metastases, appearance at an early age, and a relative resistance to radiation or chemotherapy. To date, reported reconstructive treatment has been limited to excision with skin grafting or amputation. We report the successful combined use of tissue expansion and microsurgical free tissue transplantation to reconstruct a patient with RDEB found to have malignancy of the hand. Donor skin was found to expand without blistering, and use of the expander allowed primary donor site closure after microsurgical transplantation of a scapular flap. We recommend wide tumor resection and the aggressive use of contemporary reconstructive methods to maintain hand function and associated quality of life in patients with RDEB who develop malignancy.
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PMID:Combined tissue expansion and free tissue transfer for reconstruction of the hand in epidermolysis bullosa-associated malignancy. 829 89

A 46-year-old patient suffering from Hallopeau-Siemens type epidermolysis bullosa dystrophica presented a large squamous-cell carcinoma of the left hand. No metastases were observed. The tumour was resected and the phalanxes were amputated. The wound was covered with autologous skin grafts. Squamous-cell carcinoma is extremely aggressive in these patients and surgery is the only effective therapy. This life-threatening complication should always be kept in mind and a biopsy taken of every chronic, non-healing ulceration and of each atypical lesion.
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PMID:Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. 886 99

A 48-year-old woman with anti-epiligrin cicatricial pemphigoid (CP) who showed clinical features resembling epidermolysis bullosa acquisita was found to have adenocarcinoma of the stomach. Histological examination of lesional skin demonstrated a subepidermal blister. Direct immunofluorescence microscopy of perilesional skin revealed linear deposits of IgG and C3 at the basement membrane zone. The patient's serum contained IgG autoantibodies that bound to the dermal side of 1 mol/L NaCl-split normal human skin as determined by indirect immunofluorescence microscopy, and the lamina lucida as determined by indirect immunoelectron microscopy. The patient's serum immunoprecipitated laminin-5 from extracts and media of biosynthetically radiolabelled human keratinocytes. Immunoblot studies showed that the patient's autoantibodies specifically bound the alpha3 subunit of this laminin isoform. Fragility of the skin and bullous lesions disappeared after total gastrectomy, but soon reappeared possibly in association with metastatic disease in a lymph node. The possibility that anti-epiligrin CP may develop paraneoplastically in some patients is discussed.
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PMID:Anti-epiligrin cicatricial pemphigoid: a case associated with gastric carcinoma and features resembling epidermolysis bullosa acquisita. 1002 73


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