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2.
An. bras. dermatol ; 95(4): 480-483, July-Aug. 2020. graf
Article in English | LILACS, ColecionaSUS | ID: biblio-1130900

ABSTRACT

Abstract Multinucleate cell angiohistiocytoma is a rare, benign vascular proliferation of unknown etiology. It occurs mainly in middle-aged women and usually affects the acral regions; the lesions appear as discrete, grouped, and asymptomatic violaceous papules. Histopathology shows proliferation and dilated small vessels in the papillary dermis, fibrous stroma with thickened collagen bundles, and multinucleated giant cells. To date, there are approximately 140 cases described in the indexed literature. This report presents the case of a 62-year-old woman with a typical clinical condition, who chose not undergo treatment, considering the benign character of her illness. The clinical and immunohistological aspects of this unusual dermatological entity are emphasized.


Subject(s)
Humans , Female , Skin Neoplasms , Histiocytoma, Benign Fibrous , Skin , Giant Cells , Endothelial Cells , Middle Aged
3.
An. bras. dermatol ; 90(6): 904-906, Nov.-Dec. 2015. graf
Article in English | LILACS | ID: lil-769516

ABSTRACT

Abstract: Mycological examination is still the cornerstone for the diagnosis of onychomycosis for many dermatologists, but sampling technique interferes on its sensitivity and specificity. Nail abrasion may be used to reach the most proximal part of the lesion and can be easily accomplished with an electric abrasor. We suggest nail plate dermoscopy to identify the best location for localized abrasion to obtain adequate samples for mycological examination.


Subject(s)
Female , Humans , Middle Aged , Dermoscopy/methods , Foot Dermatoses/pathology , Nails/pathology , Onychomycosis/pathology , Fungi/isolation & purification , Reproducibility of Results , Sensitivity and Specificity
4.
An. bras. dermatol ; 90(2): 255-257, Mar-Apr/2015. graf
Article in English | LILACS | ID: lil-741072

ABSTRACT

A 70-year-old male presenting a 3-month history of genital painless erythematous nodules in the balanopreputial sulcus was referred to our service. Histopathological exam presented a chronic dermatitis with epithelioid granulomas and Grocott staining revealed numerous fungal structures with a suggestive morphology of Histoplasma sp. Cultures evidenced Histoplasma capsulatum var. capsulatum. Treatment with oral itraconazole led to complete remission of lesions.


Subject(s)
Aged , Humans , Male , Dermatomycoses/pathology , Histoplasmosis/pathology , Immunocompetence , Penile Diseases/pathology , Antifungal Agents/therapeutic use , Biopsy , Dermatomycoses/drug therapy , Dermatomycoses/immunology , Histoplasma , Histoplasmosis/drug therapy , Histoplasmosis/immunology , Immunocompetence/immunology , Itraconazole/therapeutic use , Penile Diseases/drug therapy , Penile Diseases/immunology , Treatment Outcome
5.
Rev. Inst. Med. Trop. Säo Paulo ; 57(1): 57-61, Jan-Feb/2015. graf
Article in English | LILACS | ID: lil-736361

ABSTRACT

There are few studies on the role of innate immune response in dermatophytosis. An investigation was conducted to define the involvement of Toll-Like Receptors (TLRs) 2 and 4 in localized (LD) and disseminated (DD) dermatophytosis due to T. rubrum. Fifteen newly diagnosed patients, eight patients with LD and seven with DD, defined by involvement of at least three body segments were used in this study. Controls comprised twenty skin samples from healthy individuals undergoing plastic surgery. TLR2 and TLR4 were quantified in skin lesions by immunohistochemistry. A reduced expression of TLR4 in the lower and upper epidermis of both LD and DD patients was found compared to controls; TLR2 expression was preserved in the upper and lower epidermis of all three groups. As TLR4 signaling induces the production of inflammatory cytokines and neutrophils recruitment, its reduced expression likely contributed to the lack of resolution of the infection and the consequent chronic nature of the dermatophytosis. As TLR2 expression acts to limit the inflammatory process and preserves the epidermal structure, its preserved expression may also contribute to the persistent infection and limited inflammation that are characteristic of dermatophytic infections.


A literatura sobre o papel da resposta imune inata em dermatofitose é escassa. Este estudo se propôs a investigar a participação dos receptores do tipo Toll 2 e 4 (TLRs) 2 e 4 em pacientes com dermatofitose localizada (LD) e disseminada (DD, definida como lesões em pelo menos três segmentos corpóreos distintos), causadas por Trichophyton rubrum. Foram analisados cortes histológicos de 15 pacientes recém-diagnosticados, oito com LD e sete com DD. O grupo controle foi composto por 20 amostras de pele de indivíduos saudáveis submetidos a cirurgia plástica. TLR-2 e TLR-4 foram quantificados em lesões cutâneas por imunohistoquímica. Encontramos uma expressão reduzida de TLR-4 na epiderme superior e inferior nos dois grupos, LD e DD, quando comparados com o grupo controle; a expressão de TLR-2 foi preservada na epiderme superior e inferior de todos os três grupos. Como a sinalização por TLR-4 induz produção de citocinas inflamatórias e recrutamento de neutrófilos, a menor expressão desta molécula provavelmente contribui para a não resolução da infecção e conseqüente natureza persistente da dermatofitose. Como a sinalização via TLR-2 tem sido descrita como fator de regulação do processo inflamatório e de preservação da estrutura epidérmica, a sua expressão inalterada nas lesões dos pacientes com DD e DL pode contribuir também para a persistência da infecção e do reduzido processo inflamatório que são característicos das infecções por dermatófitos.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Keratinocytes/metabolism , Tinea/metabolism , /metabolism , /metabolism , Case-Control Studies , Immunohistochemistry , Tinea/pathology
6.
An. bras. dermatol ; 89(4): 669-670, Jul-Aug/2014. graf
Article in English | LILACS | ID: lil-715549

ABSTRACT

We present an interesting case report of two sarcoid-like lesions on a port-wine stain (PWS) birthmark in a Brazilian patient which on investigation proved to be cutaneous leishmaniasis.


Subject(s)
Adult , Female , Humans , Leishmaniasis, Cutaneous/pathology , Port-Wine Stain/pathology , Biopsy , Immunohistochemistry , Skin/pathology
7.
An. bras. dermatol ; 89(2): 236-240, Mar-Apr/2014. tab, graf
Article in English | LILACS | ID: lil-706969

ABSTRACT

BACKGROUND: Genital warts are caused by human papillomavirus infection and represent one of the most common sexually transmitted diseases. Many infections are transient but the virus may recur, persist, or become latent. To date, there is no effective antiviral treatment to eliminate HPV infection and most therapies are aimed at the destruction of visible lesions. Potassium hydroxide is a strong alkali that has been shown to be safe and effective for the treatment of genital warts and molluscum contagiosum. Cryotherapy is considered one of the most established treatments for genital warts. No comparative trials have been reported to date on the use of potassium hydroxide for genital warts. OBJECTIVE: A prospective, open-label, randomized clinical trial was conducted to compare topical potassium hydroxide versus cryotherapy in the treatment of genital warts affecting immunocompetent, sexually active men. METHODS: Over a period of 10 months, 48 patients were enrolled. They were randomly divided into two groups and selected on an alternative basis for either potassium hydroxide therapy or cryotherapy. While response to therapy did not differ substantially between both treatment modalities, side effects such as local pain and post-treatment hypopigmentation were considerably more prevalent in the groups treated using cryotherapy. Result: In our study, potassium hydroxide therapy proved to be at least as effective as cryotherapy and offered the benefit of a better safety profile. CONCLUSION: Topical 5% potassium hydroxide presents an effective, safe, and low-cost treatment modality for genital warts in men and should be included in the spectrum of therapies for genital warts. .


Subject(s)
Adolescent , Adult , Aged , Humans , Male , Middle Aged , Young Adult , Condylomata Acuminata/therapy , Cryotherapy/methods , Dermatologic Agents/administration & dosage , Genital Diseases, Male/therapy , Hydroxides/administration & dosage , Potassium Compounds/administration & dosage , Administration, Topical , Chi-Square Distribution , Dose-Response Relationship, Drug , Dermatologic Agents/therapeutic use , Follow-Up Studies , Hydroxides/therapeutic use , Prospective Studies , Potassium Compounds/therapeutic use , Reproducibility of Results , Treatment Outcome
8.
An. bras. dermatol ; 88(4): 649-651, ago. 2013. tab, graf
Article in English | LILACS | ID: lil-686518

ABSTRACT

The female flea Tunga penetrans is responsible for a cutaneous parasitosis known as Tungiasis. We report the clinical case of a 12 year-old Caucasian boy who sought treatment in a dermatological private office due to a painful lesion in the plantar area and whose dermoscopic examination, without skin contact, allowed the visualization of parasite's movement inside the skin. The diagnosis of tungiasis is clinical, but it can be aided by in vivo and ex vivo dermoscopic examination of the lesion.


A fêmea da pulga Tunga penetrans é responsável pela dermatose ectoparasitária denominada Tungíase. Relatamos o caso clínico de um adolescente branco de 12 anos de idade, o qual procurou atendimento em consultório dermatológico devido à lesão dolorosa na planta e cujo exame dermatoscópico sem contato com a pele permitiu visualizar o movimento do parasita dentro da pele. O diagnóstico da tungíase é clínico, porém pode ser auxiliado pelo exame dermatoscópico in vivo e ex vivo da lesão.


Subject(s)
Animals , Child , Female , Humans , Male , Foot Diseases/pathology , Tungiasis/pathology , Dermoscopy , Tunga/anatomy & histology
9.
An. bras. dermatol ; 86(4,supl.1): 35-38, jul,-ago. 2011. ilus
Article in Portuguese | LILACS | ID: lil-604115

ABSTRACT

Inicialmente, denominada "Balanoposthite chronique circonscrite benigne a plasmocytes", a balanite plasmocitária de Zoon é uma dermatose inflamatória crônica da glande e prepúcio afetando homens não circuncisados. As diferentes opções de tratamento para esta afecção apresentam frequentemente resultados parciais. Relatos têm demonstrado sucesso terapêutico, com o uso de tacrolimo tópico. Relatamos o uso de pimecrolimus, um homólogo de tacrolimo, com boa resposta. Dois doentes do sexo masculino, com diagnóstico de Balanite de Zoon confirmado através de biópsia, foram submetidos a um tratamento diário com pimecrolimus tópico a 1 por cento, com importante melhora da doença após 6 semanas para o paciente, 1 e 8 semanas para o 2. Conclusão: O pimecrolimus em creme pode ser uma opção para o tratamento da doença.


Initially called (in French) "Balanoposthite chronique circonscrite benigne a plasmocytes", Zoon's plasma cell balanitis is a chronic inflammatory dermatosis affecting the glans and foreskin of uncircumcised men. The different treatment options for this condition often present partial results. Reports have shown therapeutic success using topical tacrolimus. We report the use of pimecrolimus, a homologue of tacrolimus, with good response. Two male patients diagnosed with Zoon's plasma cell balanitis, confirmed by biopsy, were subjected to daily treatment with topical pimecrolimus1 percent. Significant improvement was noted in patient 1 after 6 weeks and after 8 weeks in patient 2. Conclusion: Pimecrolimus cream may be an option for the treatment of this disease.


Subject(s)
Adult , Humans , Male , Middle Aged , Balanitis/drug therapy , Dermatologic Agents/therapeutic use , Tacrolimus/analogs & derivatives , Administration, Topical , Balanitis/pathology , Plasma Cells , Treatment Outcome , Tacrolimus/therapeutic use
10.
Braz. j. infect. dis ; 15(1): 74-80, Jan.-Feb. 2011. ilus, tab
Article in English | LILACS | ID: lil-576790

ABSTRACT

Bedbugs have been known as a human parasite for thousands of years, but scientific studies about this insect are recent and limited. Cimex lectularius, the common bedbug, was a well-known parasite in human dwellings until the end of the Second World War. Nowadays, bedbugs are considered uncommon in the industrialized world. Anecdotal reports suggest that bedbugs are getting more common in the United States, Canada, and United Kingdom. In Brazil, there are few reports about bedbug infestations in the literature. The aim of this article was to alert physicians, especially in Brazil, about this ectoparasitosis, including aspects of the bedbug biology, their parasitism in human host, treatment and prophylaxis.


Subject(s)
Animals , Humans , Bedbugs , Ectoparasitic Infestations , Host-Parasite Interactions , Bedbugs/anatomy & histology , Bedbugs/classification , Bedbugs/physiology , Ectoparasitic Infestations/diagnosis , Ectoparasitic Infestations/drug therapy , Ectoparasitic Infestations/epidemiology , Ectoparasitic Infestations/parasitology
11.
An. bras. dermatol ; 85(4): 549-553, jul.-ago. 2010. ilus
Article in Portuguese | LILACS | ID: lil-560589

ABSTRACT

Lesões decorrentes da infecção pelo papilomavírus humano na infância, em especial as verrugas anogenitais, são um importante problema epidemiológico e terapêutico. O tratamento das verrugas anogenitais na infância é um desafio terapêutico. Os tratamentos convencionais geralmente são dolorosos e necessitam de anestesia geral. O imiquimode, um imunomodulador tópico, constitui uma alternativa terapêutica. Serão descritos quatro casos tratados com sucesso utilizando creme de imiquimode a 5 por cento aplicado topicamente.


In children, lesions caused by the human papillomavirus (HPV) constitute a significant epidemiological issue and a therapeutic dilemma, particularly in the case of anogenital warts. The treatment of anogenital warts in children is a challenge, since standard treatments are generally painful and require the patient to be anesthetized. Imiquimod, a topical immune response modifier, constitutes an alternative therapeutic agent for the treatment of HPV. The present report describes four cases in which treatment with topically applied imiquimod 5 percent cream was implemented with successful results.


Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Adjuvants, Immunologic/administration & dosage , Aminoquinolines/administration & dosage , Condylomata Acuminata/drug therapy , Administration, Topical , Condylomata Acuminata/diagnosis , Condylomata Acuminata/etiology , Treatment Outcome
12.
An. bras. dermatol ; 85(1): 104-105, jan.-fev. 2010. ilus
Article in Portuguese | LILACS | ID: lil-546164

ABSTRACT

Os autores relatam o caso clínico de uma doente que procurou atendimento dermatológico em decorrência da presença de lesão em placa papulosa de superfície verrucosa no cotovelo esquerdo.


In this report, the authors describe the clinical case of a woman seeking care at this dermatology outpatient clinic with a verrucous plaque on her left elbow.


Subject(s)
Aged , Female , Humans , Chromoblastomycosis/diagnosis
13.
An. bras. dermatol ; 84(2): 151-159, mar.-abr. 2009. ilus
Article in English, Portuguese | LILACS | ID: lil-515918

ABSTRACT

As doenças sexualmente transmissíveis estão entre os problemas de saúde pública mais comuns em todo o mundo. Entre suas consequências estão a infertilidade feminina e masculina, a transmissão de mãe para filho, determinando perdas gestacionais ou doença congênita, e o aumento do risco para a infecção pelo HIV. Dessa forma, este guideline tem o objetivo de contribuir para melhorar a qualidade de atenção às pessoas com infecções sexualmente transmissíveis mais frequentes no Brasil, trazendo de forma didática e concreta o estado atual dos conhecimentos para os dermatologistas e médicos em geral que atuam no atendimento dessas pessoas e as principais recomendações para o diagnóstico e tratamento das doenças sexualmente transmissíveis mais recorrentes.


Nowadays, sexually transmitted diseases are one of the most common public health issues. Among its consequences are the possibility of transmission from mother to baby - which may cause miscarriages and congenital disease, male and female infertility, and the increase of HIV infection risk. Therefore, the main goal of these guidelines is to contribute to the improvement of the treatment for sexually transmitted diseases patients by presenting to the medical community how today's science stands on the matter and also what the recommendation for diagnosing and treating a patient are.


Subject(s)
Female , Humans , Male , Sexually Transmitted Diseases/diagnosis , Sexually Transmitted Diseases/therapy , Brazil , Diagnosis, Differential , HIV Infections/transmission , Infectious Disease Transmission, Vertical , Infertility, Female/etiology , Infertility, Male/etiology , Sexually Transmitted Diseases/complications
14.
15.
Braz. j. infect. dis ; 12(6): 521-525, Dec. 2008. ilus, tab
Article in English | LILACS | ID: lil-507454

ABSTRACT

Donovanosis is a chronic bacterial illness frequently associated with sexually transmitted infections (STI) and is under diagnosed both in endemic areas as well as in countries in which doctors have little experience with tropical diseases. The utilization of syndromic diagnosis and treatment of STIs in various parts of the world and the previous use of antibiotics make it difficult to find Donovan bodies in the cytodiagnostic and hystopathological exams, requiring the utilization of technology that is neither routine nor often accessible to confirm the hypothesized diagnosis. Therefore, it is necessary to bring medical professionals up to date about this infectious disease.


Subject(s)
Female , Humans , Male , Granuloma Inguinale , Diagnosis, Differential , Granuloma Inguinale/complications , Granuloma Inguinale/diagnosis , Granuloma Inguinale/drug therapy , Granuloma Inguinale/epidemiology
16.
Braz. j. infect. dis ; 11(4): 388-389, Aug. 2007.
Article in English | LILACS | ID: lil-460696

ABSTRACT

Ten patients with donovanosis were treated with thiamphenicol for two weeks. In eight of them, included two HIV infected patients, lesions healed. The safety profile of thiamphenicol makes it a useful and cost-effective agent in the management of donovanosis. Randomized controlled trials should be conducted with these treatment options.


Subject(s)
Humans , Male , Anti-Bacterial Agents/therapeutic use , Granuloma Inguinale/drug therapy , Penile Diseases/drug therapy , Thiamphenicol/therapeutic use , Follow-Up Studies , Penile Diseases/microbiology , Treatment Outcome
17.
Braz. j. microbiol ; 38(2): 293-295, Apr.-June 2007. graf
Article in English | LILACS | ID: lil-454909

ABSTRACT

Continued monitoring of antimicrobial resistance patterns is essential in order for Sexually Transmitted Diseases (STD) treatment to be effective. Gonococci isolates from 65 patients in São Paulo were submitted to susceptibility testing, and a decreased susceptibility or resistance to ciprofloxacin was observed in 8.7 percent of these patients, indicating that Neisseria gonorrhoeae fluoroquinolone resistance is emerging in Brazil.


O monitoramento contínuo de resistência antimicrobiana é essencial para a efetividade do tratamento das Doenças Sexualmente Transmissíveis (DST). Gonococosisolados de 65 pacientes de São Paulo foram submetidos a teste de susceptibilidade verificando-se que 8,7 por cento apresentavam susceptibilidade diminuída ou resistência ao ciprofloxacino, o que indica que a resistência da Neisseria gonorrhoeae às fluoroquinolonas é emergente no Brasil.

18.
Rev. Inst. Med. Trop. Säo Paulo ; 49(1): 55-58, Jan.-Feb. 2007. tab
Article in English | LILACS | ID: lil-444578

ABSTRACT

Use of antimicrobials for the treatment of gonorrhea started in 1930 with the utilization of sulfonamides. With the years other drugs were used for its treatment such as penicillin, tetracycline, spectinomycin, and others. Although highly specific in the beginning, these drugs, with time did not show anymore the expected therapeutic results because of aspects of chromosomal and plasmid-mediated resistance. The purpose of this study was to evaluate the susceptibility of Neisseria gonorrhoeae strains to six drugs used for its treatment (penicillin, tetracycline, cefoxitin, thiamphenicol, spectinomycin and ofloxacin) by the determination of minimal inhibitory concentrations of these drugs. We concluded that drugs, such as cefoxitin, thiamphenicol and spectinomycin still are excellent pharmacological agents for the treatment of gonorrhea. Penicillin, although still efficient, needs more attention regarding its use, as well as ofloxacin, because of the emergence of resistant strains. Tetracycline and its derivatives should be strongly contraindicated for the treatment of gonorrhea.


A utilização de antimicrobianos no tratamento da gonorréia iniciou-se em 1930 com a utilização das sulfonamidas. No decorrer dos anos outras drogas passaram a ser utilizadas em seu tratamento como a penicilina, tetraciclina, espectinomicina e outras. Embora altamente eficazes no início, essas drogas, ao longo do tempo, passaram a não mais apresentar o resultado terapêutico esperado em virtude do aparecimento de quadros de resistência cromossômica e plasmidial. Este trabalho teve por objetivo avaliar a sensibilidade de cepas de Neisseria gonorrhoeae a seis drogas utilizadas no seu tratamento (penicilina, tetraciclina, cefoxitina, tianfenicol, espectinomicina e ofloxacina) através da concentração inibitória mínima. Concluimos que drogas como a cefoxitina, o tianfenicol e a espectinomicina ainda constituem excelentes fármacos para o tratamento da gonorréia. A penicilina, embora ainda eficaz, enseja maiores cuidados na sua utilização, assim como a ofloxacina, frente ao surgimento de cepas resistentes e, a tetraciclina e seus derivados deve ser sobremaneira contra-indicada no tratamento da gonorréia.


Subject(s)
Humans , Anti-Bacterial Agents/pharmacology , Neisseria gonorrhoeae/drug effects , Microbial Sensitivity Tests
19.
An. bras. dermatol ; 82(1): 41-46, jan.-fev. 2007. tab, graf
Article in Portuguese | LILACS | ID: lil-454983

ABSTRACT

FUNDAMENTOS - A vaginose bacteriana é doença de grande relevância devido à sua alta prevalência e suas complicações obstétricas e ginecológicas. OBJETIVO - Descrever o perfil epidemiológico das pacientes com diagnóstico de vaginose bacteriana, atendidas em um ambulatório de São Paulo, segundo variáveis de interesse social, demográfico e clínico. MÉTODOS - Estudo transversal descritivo, baseado nos prontuários de 658 mulheres atendidas de janeiro de 1999 a dezembro de 2004. Foram coletadas as seguintes informações: idade, cor, estado civil, procedência, grau de escolaridade, preferência sexual, número de parceiros e presença de doença sexualmente transmissível associada. RESULTADOS - A prevalência encontrada foi de 29 por cento. Com relação ao perfil da mulher com vaginose bacteriana, observou-se maior ocorrência em jovens entre 10 e 19 anos (40 por cento), negras (37,1 por cento), viúvas (62,5 por cento), com segundo grau incompleto (39,5 por cento), heterossexuais (29,5 por cento), com dois ou mais parceiros sexuais nos últimos 30 dias (50 por cento) e nos últimos cinco anos (32,3 por cento). A associação com outras doenças sexualmente transmissíveis, concomitante, foi encontrada em 31,9 por cento dos casos. CONCLUSÃO - A distribuição dos casos segundo faixa etária, raça, número de parceiros sexuais e associação com outras doenças encontradas nas pacientes com diagnóstico de vaginose bacteriana foi semelhante aos dados encontrados na literatura. A ocorrência está dentro dos limites descritos (10 e 36 por cento).


BACKGROUND- Bacterial vaginosis is an important disease on account of its high prevalence as well as the obstetrical and gynecological complications. OBJECTIVE- To present an epidemiological profile of patients diagnosed with bacterial vaginosis seen at an outpatient clinic in the city of Sao Paulo, Brazil, described according to socio-demographic and clinical variables. METHODS- A cross-sectional descriptive study was performed by collecting data from the medical records of 658 females, seen from January, 1999 to December, 2004. Our study took into account age, ethnicity, marital status, schooling, sexual preference, number of partners and associated sexual diseases. RESULTS- The prevalence observed was 29 percent. Regarding the profile of women with bacterial vaginosis, the highest ratio of cases occurred in adolescents aged 10 to 19 years old (40 percent), black women (37.1 percent), widows (62.5 percent), women who have not graduated from high school (39.5 percent), heterosexual women (29.5 percent), women with two or more sexual partners in the last 30 days (50 percent) and in the last five years (35.3 percent). The concomitant association with other sexually transmitted diseases was found in 35 percent of cases. CONCLUSION- The distribution of bacterial vaginosis in patients according to age, ethnicity, number of sexual partners and associated sexual diseases was similar to that described in the literature. The observed ratio was within values of other studies (10 to 36 percent).

20.
An. bras. dermatol ; 81(6): 599-601, nov.-dez. 2006. ilus
Article in Portuguese | LILACS | ID: lil-448211

ABSTRACT

A síndrome Leopard é distúrbio autossômico dominante de forte penetrância e expressividade variável. O epônimo Leopard foi criado em 1969 como regra mnemônica, ressaltando as características mais marcantes da síndrome: lentiginose, distúrbios de condução no ECG, hipertelorismo ocular, estenose pulmonar, anormalidade genital, retardo do crescimento e déficit auditivo sensorial. Relata-se o caso de uma menina de 15 anos com características da síndrome Leopard e discutem-se suas principais manifestações clínicas e genéticas.


LEOPARD syndrome is a dominant autosomal anomaly, with high penetrance and markedly variable expression. The acronym LEOPARD was coined in 1969 as a mnemonic rule, highlighting the major features of this syndrome: lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. We report the case of a 15-year-old girl with characteristics of LEOPARD syndrome and further discuss the main clinical and genetical features of the disorder.

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