PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was described in 1986, and to date is of unknown genetic etiology. All reported cases are sporadic, born to non-consanguineous parents and have apparently normal chromosomes. Noonan and Costello syndromes remain its main differential diagnosis. The recent finding of PTPN11 missense mutations in 45-50% of the Noonan patients studied with penetrance of almost 100% and the fact that in animals mutations of this gene cause defects of semilunar valvulogenesis, made PTPN11 mutation screening in CFC patients a matter of interest. We sequenced the entire coding region of the PTPN11 gene in ten well-characterised CFC patients and found no base changes. We also studied PTPN11 cDNA in our patients and demonstrated that there are no interstitial deletions either. The genetic cause of CFC syndrome remains unknown, and PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which we regard as molecular evidence that CFC and Noonan syndromes are distinct genetic entities.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress.

Mycobacterium leprae is identified in the oral mucosa from paucibacillary and multibacillary leprosy patients.

In leprosy, the nasal mucosa is considered as the principal route of transmission for the bacillus Mycobacterium leprae. The objective of this study was to identify M. leprae in the oral mucosa of 50 untreated leprosy patients, including 21 paucibacillary (PB) and 29 multibacillary (MB) patients, using immunohistochemistry (IHC), with antibodies against bacillus Calmette-Guérin (BCG) and phenolic glycolipid antigen-1 (PGL-1), and polymerase chain reaction (PCR), with MntH-specific primers for M. leprae, and to compare the results. The material was represented by 163 paraffin blocks containing biopsy samples obtained from clinically normal sites (including the tongue, buccal mucosa and soft palate) and visible lesions anywhere in the oral mucosa. All patients and 158 available samples were included for IHC study. Among the 161 available samples for PCR, 110 had viable DNA. There was viable DNA in at least one area of the oral mucosa for 47 patients. M. leprae was detected in 70% and 78% of patients using IHC and PCR, respectively, and in 94% of the patients by at least one of the two diagnostic methods. There were no differences in detection of M. leprae between MB and PB patients. Similar results were obtained using anti-BCG and anti-PGL-1 antibodies, and immunoreactivity occurred predominantly on free-living bacteria on the epithelial surface, with a predilection for the tongue. Conversely, there was no area of predilection according to the PCR results. M. leprae is present in the oral mucosa at a high frequency, implicating this site as a potential means of leprosy transmission.

Incidence of Tinea capitis in São Paulo, Brazil.

To determine the incidence of tinea capitis in São Paulo, Brazil, an investigation was performed in Private and Public Pediatrics Service involving 4,500 children from 0 to 15 years old during 5 years (1996-2000). Samples were taken from 132 children with suspected fungal infection of the scalp, for direct microscopy and culture. Tinea of scalp was mycologically confirmed in 112 patients (85%). Males were more affected than females in all age groups. Children below 8 years old accounted for more than 75% of the occurrences. Only three cases of tinea capitis were diagnosed in children from 12 to 15 years of age. Tinea capitis was prevalent in 103 cases (91.96%); inflammatory kerion type lesions were diagnosed in 9 patients (8.04%). Microsporum canis (70.5%) and Trichophyton tonsurans (23.2%) were the most common agents followed by T. mentagrophytes (3.6%), M. gypseum (1.8%) and T. rubrum (0.9%).

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.

Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000, 2002]. The patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. In order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. The average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements.

Detection and typing of human papillomavirus in cutaneous warts of patients infected with human immunodeficiency virus type 1.

BACKGROUND: Cutaneous warts are caused by human papillomavirus (HPV). To date, more than 120 different types of HPV are known, of which 80 have been completely characterized. Prevalence studies on types of HPV present in cutaneous warts have been carried out in immunocompetent individuals and immunosuppressed organ allograft recipients, but not in human immunodeficiency virus (HIV)-positive patients. OBJECTIVES: To determine the HPV types present in cutaneous warts of HIV-infected patients. METHODS: Twenty-five biopsies of cutaneous warts from HIV-infected patients and 14 samples from control non-HIV-infected patients were studied. HPV detection was performed by polymerase chain reaction using two sets of primers: MY09/MY11 and RK91. The type of HPV was determined by restriction fragment length polymorphism analysis and direct sequencing of the amplified products. RESULTS: HPV DNA was detected in 64% of cutaneous warts from HIV-infected patients and in 79% of samples from the control group. The HPV types identified in HIV-infected patients were: HPV 2 (38%), 57 (31%), 27 (12%), 6 (12%) and 7 (6%). HPV 2/27/57 predominated in both groups, being present in 81% of lesions from HIV-infected patients and 82% of samples from non-HIV-infected patients. HPV 6, a genital HPV type rarely found in cutaneous lesions, was detected in two warts from HIV-infected patients and in one lesion of the immunocompetent group. HPV 7, characteristically associated with butcher's warts, and recently detected in oral and perioral lesions of HIV-infected patients, was found for the first time in a non-facial lesion of an HIV-infected patient. CONCLUSIONS: This is the first study evaluating the prevalence of HPV types in cutaneous warts of HIV-infected patients and immunocompetent individuals in Brazil.

Tatu e hanseníase / Armadillus and hanseaniasis

Grande número de hansenianos admite a possibilidade de que o uso da carne de tatu na sua alimentaçäo possa ser meio de transmissäo da hanseníase. Tentando esclarecer se esta crença é verdadeira os autores entrevistaram 205 doentes dos quais 132 eram do sexo masculino e 73 do sexo feminino, indagando pormenorizadamente sobre o hábito alimentar com carne de tatu. Dos 205 doentes entrevistados, 127 referiram o uso da carne, destes 127 doentes, 101 consumiam o alimento antes do início da doença e 26 doentes referiram o seu uso quando já apresentavam manifestaçöes clínicas da moléstia. Os autores realizarma pesquisa bibliografica sobre o assunto estudado e tecem comentários sobre os resultados obtidos e os dados da literatura