Cases reported "Carcinoma, Squamous Cell"

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1/28. Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

    Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study Squamous cell carcinoma (SCC) is a frequent complication in the severe, recessively inherited forms of dystrophic epidermolysis bullosa (RDEB), however, only rarely reported in dominant DEB. Although the SCCs in RDEB are frequently well-differentiated by histopathology, they often have a poor prognosis due to multicentricity, rapid invasiveness, and development of distant metastases. In this study, we sought to determine the molecular basis of DDEB in a family with the unusual occurrence of SCCs. Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene (COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene. This mutation detection strategy disclosed a G-->A transition at nucleotide position 6,235 which resulted in substitution of a glycine by arginine within the collagenous region of COL7A1. This study establishes, for the first time, the molecular basis in a family with DDEB/SCC. Clinically, this study reemphasizes the importance of vigilance in surveying DEB patients, not only those with recessive but also with dominant inheritance, for SCC.
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keywords = epidermolysis bullosa, epidermolysis, bullosa
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2/28. Squamous cell carcinoma secondary to recessive dystrophic epidermolysis bullosa: report of eight tumours in four patients.

    BACKGROUND: The development of squamous cell carcinomas is the main cause of death of patients with Dystrophic epidermolysis bullosa. We think it is of interest to know their clinical characteristics and the treatment difficulties they cause. methods: We followed the clinical evolutions and carried out histopathological studies of eight primary cutaneous squamous cell carcinomas on three males and one female with recessive dystrophic epidermolysis bullosa. Patient ages ranged from 16 to 34 years (mean 27). RESULTS: Two patients had two tumours and one three, all were in characteristically scarred skin; four on upper limbs; four on lower. Maximum tumour dimensions ranged from 2 to 28 cm (mean 13), and represented 6 or more months of evolution. In three cases the affected limb must be amputated. Five tumours were well differentiated, three were moderately differentiated. CONCLUSIONS: The patients consulted too late and their large lesions needed aggressive treatment. Appropriate information and regular examination of patients with RDEB helps early diagnosis of tumours and may avoid disabling operations.
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keywords = epidermolysis bullosa, epidermolysis, bullosa
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3/28. Marjolin's ulcer.

    In 1828 John Nicolas Marjolini characterized ulcer with malignant degeneration which developed in scars after burns, but it occurs under varying clinical conditions. Typical feature is the latent period (on average 30 years). It is encountered in 2 forms: a shallow ulcer or exophytic tumour, most frequently on the lower extremities. At the Prague Burn Centre 11 patients were treated since 1978 till 1998. A unique case was a man suffering from congenital form of epidermolysis bullosa who developed Marjolin's ulcer on his foot (histological examination confirmed well differentiated squamous cell carcinoma). After 4 years he died with extreme cachexia and metastatic spread of the tumour, because he refused repeatedly amputation and lymph nodes dissection. To prevent Marjolin's ulcer several recommendations are presented.
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ranking = 0.16666666666667
keywords = epidermolysis bullosa, epidermolysis, bullosa
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4/28. Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa.

    We report here on three patients suffering from recessive dystrophic epidermolysis bullosa and one suffering from generalized atrophic benign epidermolysis bullosa, all of whom developed cutaneous squamous cell carcinoma. Our observations and a review of the literature suggest that squamous cell carcinoma in generalized atrophic benign epidermolysis bullosa is very infrequent and has a better outcome compared to skin cancer in recessive dystrophic epidermolysis bullosa. These differences could be explained by the distinct pathophysiology and clinical course of each of these variants of epidermolysis bullosa. In contrast to UV-induced skin cancer, the tumours in epidermolysis bullosa develop on distal extremities at sites of chronic wound healing. The cases reported here underline the exceptional importance of early histopathological assessment of suspicious skin lesions in patients with epidermolysis bullosa.
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ranking = 1.8333333333333
keywords = epidermolysis bullosa, epidermolysis, bullosa
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5/28. A 13-year-old girl with recessive dystrophic epidermolysis bullosa presenting with squamous cell carcinoma.

    Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severely disabling genetic disorder characterized by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. patients with RDEB have an increased tendency for fast-growing and early metastasizing squamous cell carcinoma (SCC). We report here a 13-year-old girl with RDEB who developed a large SCC on the left knee. At 6 months of evolution it was resected and covered with an autologous skin graft. To our knowledge, this is the youngest patient with RDEB complicated by SCC to be reported, and therefore may serve to emphasize the importance of vigilance in surveying RDEB patients for SCC.
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ranking = 0.83333333333333
keywords = epidermolysis bullosa, epidermolysis, bullosa
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6/28. groin dissections in epidermolysis bullosa: a report of groin dissection for the control of metastatic squamous carcinoma in patients with epidermolysis bullosa.

    epidermolysis bullosa predisposes to the development of squamous cell carcinoma. Despite regular surveillance, the majority of severely affected epidermolysis bullosa patients die from metastatic spread. There are no reports on regional control of metastatic spread. We describe our experience with two cases of groin dissection in epidermolysis bullosa. By anticipating the pitfalls in the perioperative care of patients with epidermolysis bullosa, we feel confident that they should make a full recovery.
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ranking = 1.8426094760302
keywords = epidermolysis bullosa, epidermolysis, bullosa
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7/28. Free anterolateral thigh perforator flap for reconstruction of dystrophic epidermolysis bullosa-associated squamous cell carcinoma in the foot: case report.

    The authors present a patient with dystrophic epidermolysis bullosa-associated squamous cell carcinoma in the foot. The patient underwent successful reconstruction with a free anterolateral thigh flap based on a perforator with minimal donor site morbidity.
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ranking = 0.83333333333333
keywords = epidermolysis bullosa, epidermolysis, bullosa
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8/28. Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.

    A 25-year-old woman with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa had generalized blistering, scarring and milia since birth. In the course of the disease, acral pseudosyndactyly developed, and the patient suffered from corneal erosions, oesophageal strictures, malabsorption, recurrent severe pneumonias and nephrotic syndrome. In addition, she had severe anaemia, sideropaenia, hypocalcaemia, heavy proteinuria and hypoalbuminaemia. A rapidly growing skin squamous cell carcinoma developed on the neck that spread to axillary and cervical lymph nodes. Recurrent hypocalcaemic tetanic convulsions and dyspnoea and a pneumonia refractory to antibiotics led to the premature demise of the patient. autopsy revealed extensive amyloidosis of the renal, hepatic and splenic tissues. AA type amyloid deposits were detected in the renal glomeruli and in the lung, explaining the patient's unusually severe pulmonary infections. In essence, the patient had severe recessive dystrophic epidermolysis bullosa, complicated by squamous cell carcinoma, recurrent pneumonias and nephrotic syndrome due to secondary amyloidosis of the kidney and lung. The possibility of secondary pulmonary amyloidosis should be considered in severe dystrophic epidermolysis bullosa patients with recurrent pulmonary infections.
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ranking = 1.1666666666667
keywords = epidermolysis bullosa, epidermolysis, bullosa
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9/28. Squamous cell carcinoma in recessive dystrophic epidermolysis bullosa, presenting as an ulcer that appears to be filled with granulation tissue.

    BACKGROUND: Cutaneous squamous cell carcinoma (SCCA) is an important cause of death in patients with the severe form of recessive dystrophic epidermolysis bullosa (RDEB). These cancers often present with features that are different from those of actinically induced SCCA. OBJECTIVE: To emphasize the unusual features with which SCCA can present in RDEB and discuss early recognition of such cancers. methods: We present the case of a patient with RDEB who developed a cutaneous ulcer that appeared to be filled with heaped-up granulation tissue. biopsy, however, showed moderately differentiated squamous cell carcinoma. RESULTS: The patient underwent wide surgical excision of the cancer, with split-thickness skin graft. She has remained disease-free three years later. CONCLUSION: In patients with RDEB, any ulcer that appears to be filled with heaped-up granulation tissue should be biopsied to rule out SCCA.
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ranking = 0.83333333333333
keywords = epidermolysis bullosa, epidermolysis, bullosa
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10/28. Squamous cell carcinoma developing in a 12-year-old boy with nonHallopeau-Siemens recessive dystrophic epidermolysis bullosa.

    We report a 12-year-old boy with nonHallopeau-Siemens recessive dystrophic epidermolysis bullosa (nHS-RDEB) who developed two skin lesions of squamous cell carcinoma (SCC) on the left foot. The incidence of SCC in nHS-RDEB is much lower than in the HS-RDEB subtype. Furthermore, this boy is the youngest among 92 previously described patients with DEB to develop SCC. This study emphasizes the importance of vigilance in monitoring the possible development of SCC in DEB patients regardless of age or clinical severity.
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ranking = 0.83333333333333
keywords = epidermolysis bullosa, epidermolysis, bullosa
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