14 results on '"João Carlos Macedo, Fonseca"'
Search Results
2. Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
- Author
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Ludmilla Queirós Miranda, Tainá Scalfoni Fracaroli, João Carlos Macedo Fonseca, Elisa Fontenelle, Raphael Pedro Machado Curvo, Luís Cristóvão Porto, and Roberto Souto
- Subjects
Hamartoma ,Mutation ,Nevus ,Dermatology ,RL1-803 - Abstract
Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.
- Published
- 2013
- Full Text
- View/download PDF
3. Caso para diagnóstico Case for diagnosis
- Author
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Roberto Souto da Silva, João Carlos Macedo Fonseca, and Daniel Obadia
- Subjects
Alopecia ,Ceratose ,Hiperpigmentação ,Hyperpigmentation ,Keratosis ,Dermatology ,RL1-803 - Abstract
Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso. É comum apresentar ceratose pilar no pescoço e nos ombros. Sua característica clínica primária é composta pela tríade: eritema (com ou sem telangiectasias), pápulas foliculares discretas e hiperpigmentação acastanhada.Erythromelanosis follicularis faciei et colli is a rare disease of unknown etiology characterized by symmetric erythematous brownish hyperpigmentation on the frontal, malar and temporal areas associated with involvement of the pilary follicle. It is common to present pilar keratosis on the shoulders and neck. The three main clinical characteristics are: erythema (with or without telangiectasias), discrete follicular papules and brownish hyperpigmentation.
- Published
- 2010
- Full Text
- View/download PDF
4. Case for diagnosis Caso para diagnóstico
- Author
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Ludmilla Queirós Miranda, Fernanda Valente da Silva Rehfeldt, Roberto Souto da Silva, João Carlos Macedo Fonseca, and Maria de Fátima Guimarães Scotelaro Alves
- Subjects
Leiomioma ,Mãos ,Tumor de músculo liso ,Vasos sanguíneos ,Blood vessels ,Hands ,Leiomyoma ,Smooth muscle tumor ,Dermatology ,RL1-803 - Abstract
Vascular leiomyoma are uncommon benign smooth muscle tumors which generally present as a single painful nodule in the lower limbs. We report a case of vascular leiomyoma on the second finger of the left hand, an unusual location for this tumor.Angioleiomiomas são tumores benignos raros derivados da musculatura lisa vascular, que geralmente se apresentam como nódulo doloroso solitário nos membros inferiores. Relata-se um caso de angioleiomioma no segundo quirodátilo esquerdo, localização incomum deste tumor.
- Published
- 2012
- Full Text
- View/download PDF
5. Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)
- Author
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Patrícia Domingues, Luís Cristóvão Porto, Isabella Brasil Succi, and João Carlos Macedo Fonseca
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0301 basic medicine ,Genetic Markers ,musculoskeletal diseases ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Genotype ,Cross-sectional study ,Genetic genealogy ,Population ,Dermatology ,Biology ,White People ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Genetics ,Humans ,Porphyria cutanea tarda ,education ,skin and connective tissue diseases ,Sporadic porphyria cutanea tarda ,education.field_of_study ,Communication ,nutritional and metabolic diseases ,General Medicine ,Genomics ,medicine.disease ,Population characteristics ,030104 developmental biology ,Cross-Sectional Studies ,RL1-803 ,Etiology ,Brazilian population ,Brazil - Abstract
Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.
- Published
- 2018
6. Tinea granulomatosa de Majocchi Majocchi's granuloma
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Aline Lopes Bressan, Roberto Souto da Silva, João Carlos Macedo Fonseca, and Maria de Fátima G. Scotelaro Alves
- Subjects
Corticosteroides ,Granuloma ,Micoses ,Adrenal cortex hormones ,Mycoses ,Dermatology ,RL1-803 - Abstract
Relata-se o caso de um homem de 45 anos com dermatofitose superficial de longa data, tratado, inadvertidamente, com corticoide e antibiótico, com progressão subsequente para a forma profunda, conhecida como granuloma de Majocchi. O tratamento com terbinafina VO foi curativoWe report the case of a man of 45 with superficial dermatophytosis longtime inadvertently treated with antibiotics and corticosteroids with subsequent progression to the deep form, known as granuloma Majocchi. Treatment with orally terbinafine was successful
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- 2011
- Full Text
- View/download PDF
7. Caso para diagnóstico Case for diagnosis
- Author
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Bárbara Nader Vasconcelos, João Carlos Macedo Fonseca, and Daniel Lago Obadia
- Subjects
Hidradenite Supurativa ,Mama ,Sulfametoxazol ,Breast ,Hidradenitis suppurativa ,Sulfamethoxazole ,Dermatology ,RL1-803 - Abstract
A hidradenite é uma inflamação crônica e supurativa das glândulas apócrinas. Ocorre mais frequentemente, nas mulheres, iniciando durante ou após a puberdade. Os locais mais acometidos são as axilas, porém, outras regiões ricas em glândulas apócrinas, podem ser comprometidas. A localização intermamária, de forma exclusiva, é rara e não encontramos relatos de outros casos semelhantes. Sua etiologia ainda não foi completamente elucidadaHidradenitis suppurativa is a chronic inflammation of the apocrine glands. It usually starts at or soon after puberty, and women are more often affected than men. The most affected sites are the axillae; however, other regions rich in apocrine glands may also be affected. Involvement restricted to the inframammary fold alone is rare and to the best of our knowledge there have been no reports of any similar cases. The etiology of this condition has yet to be fully clarified
- Published
- 2011
- Full Text
- View/download PDF
8. Caso para diagnóstico
- Author
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Daniel Lago Obadia, João Carlos Macedo Fonseca, and Roberto Souto da Silva
- Subjects
Follicular papules ,medicine.medical_specialty ,Keratosis ,Erythema ,business.industry ,Dermatology ,medicine.disease ,Hyperpigmentation ,Erythromelanosis follicularis faciei et colli ,medicine ,Etiology ,medicine.symptom ,business ,Rare disease - Abstract
Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso. É comum apresentar ceratose pilar no pescoço e nos ombros. Sua característica clínica primária é composta pela tríade: eritema (com ou sem telangiectasias), pápulas foliculares discretas e hiperpigmentação acastanhada.
- Published
- 2010
9. Case for diagnosis. Erythromelanosis follicularis faciei et colli
- Author
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Roberto Souto da, Silva, João Carlos Macedo, Fonseca, and Daniel, Obadia
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Male ,Hyperpigmentation ,Humans ,Child ,Darier Disease ,Facial Dermatoses ,Melanosis - Abstract
Erythromelanosis follicularis faciei et colli is a rare disease of unknown etiology characterized by symmetric erythematous brownish hyperpigmentation on the frontal, malar and temporal areas associated with involvement of the pilary follicle. It is common to present pilar keratosis on the shoulders and neck. The three main clinical characteristics are: erythema (with or without telangiectasias), discrete follicular papules and brownish hyperpigmentation.
- Published
- 2010
10. Case for diagnosis
- Author
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Bárbara Nader, Vasconcelos, João Carlos Macedo, Fonseca, and Daniel Lago, Obadia
- Subjects
Breast Diseases ,Adolescent ,Humans ,Female ,Hidradenitis Suppurativa - Abstract
Hidradenitis suppurativa is a chronic inflammation of the apocrine glands. It usually starts at or soon after puberty, and women are more often affected than men. The most affected sites are the axillae; however, other regions rich in apocrine glands may also be affected. Involvement restricted to the inframammary fold alone is rare and to the best of our knowledge there have been no reports of any similar cases. The etiology of this condition has yet to be fully clarified.
- Published
- 2010
11. Majocchi's granuloma
- Author
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Aline Lopes, Bressan, Roberto Souto da, Silva, João Carlos Macedo, Fonseca, and Maria de Fátima G Scotelaro, Alves
- Subjects
Male ,Antifungal Agents ,Granuloma ,Tinea ,Humans ,Middle Aged ,Naphthalenes ,Terbinafine - Abstract
We report the case of a man of 45 with superficial dermatophytosis longtime inadvertently treated with antibiotics and corticosteroids with subsequent progression to the deep form, known as granuloma Majocchi. Treatment with orally terbinafine was successful.
- Published
- 2010
12. Case for diagnosis
- Author
-
Ludmilla Queirós, Miranda, Fernanda Valente da Silva, Rehfeldt, Roberto Souto da, Silva, João Carlos Macedo, Fonseca, and Maria de Fátima Guimarães Scotelaro, Alves
- Subjects
Adult ,Fingers ,Male ,body regions ,Angiomyoma ,surgical procedures, operative ,Humans ,Soft Tissue Neoplasms ,Dermatology ,neoplasms ,female genital diseases and pregnancy complications - Abstract
Vascular leiomyoma are uncommon benign smooth muscle tumors which generally present as a single painful nodule in the lower limbs. We report a case of vascular leiomyoma on the second finger of the left hand, an unusual location for this tumor.
- Published
- 2012
13. Caso para diagnóstico
- Author
-
Bárbara Nader Vasconcelos, João Carlos Macedo Fonseca, and Daniel Lago Obadia
- Subjects
Dermatology - Abstract
A hidradenite é uma inflamação crônica e supurativa das glândulas apócrinas. Ocorre mais frequentemente, nas mulheres, iniciando durante ou após a puberdade. Os locais mais acometidos são as axilas, porém, outras regiões ricas em glândulas apócrinas, podem ser comprometidas. A localização intermamária, de forma exclusiva, é rara e não encontramos relatos de outros casos semelhantes. Sua etiologia ainda não foi completamente elucidada
- Published
- 2011
14. Caso para diagnóstico Case for diagnosis
- Author
-
Roberto Souto da Silva, João Carlos Macedo Fonseca, and Daniel Obadia
- Subjects
Hidradenitis suppurativa ,Sulfamethoxazole ,Hyperpigmentation ,Hidradenite Supurativa ,Mama ,lcsh:Dermatology ,Hiperpigmentação ,Alopecia ,Keratosis ,Breast ,lcsh:RL1-803 ,Ceratose ,Sulfametoxazol - Abstract
Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso. É comum apresentar ceratose pilar no pescoço e nos ombros. Sua característica clínica primária é composta pela tríade: eritema (com ou sem telangiectasias), pápulas foliculares discretas e hiperpigmentação acastanhada.Erythromelanosis follicularis faciei et colli is a rare disease of unknown etiology characterized by symmetric erythematous brownish hyperpigmentation on the frontal, malar and temporal areas associated with involvement of the pilary follicle. It is common to present pilar keratosis on the shoulders and neck. The three main clinical characteristics are: erythema (with or without telangiectasias), discrete follicular papules and brownish hyperpigmentation.
- Published
- 2011
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