Assuntos
Ainhum/genética , Constrição Patológica/genética , Ceratodermia Palmar e Plantar/genética , Mutação de Sentido Incorreto/genética , Canais de Cátion TRPV/genética , Administração Tópica , Adulto , Ainhum/diagnóstico , Ainhum/patologia , Biópsia , Constrição Patológica/diagnóstico , Constrição Patológica/patologia , Cuba/epidemiologia , Feminino , Humanos , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/tratamento farmacológico , Ceratodermia Palmar e Plantar/patologia , Ácido Láctico/administração & dosagem , Ácido Láctico/uso terapêutico , Linhagem , Canais de Cátion TRPV/metabolismo , Ureia/administração & dosagem , Ureia/uso terapêuticoAssuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Dermatopatias Vesiculobolhosas/genética , Adulto , Vesícula/patologia , Criança , Análise Mutacional de DNA , Epidermólise Bolhosa Distrófica/sangue , Epidermólise Bolhosa Distrófica/patologia , Feminino , Genes Recessivos , Humanos , Masculino , Mutação , Peru/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Dermatopatias Vesiculobolhosas/patologiaRESUMO
Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 different mutations in the 8835 nucleotides constituting the open reading frame or adjacent exon-intron boundaries of COL7A1 have been described. We used targeted next-generation sequencing to identify seven previously unreported mutations in a cohort of 17 Mexican patients who were diagnosed with RDEB based on clinical presentation and immunoepitope mapping. Our study expands the spectrum of mutations identified in this cohort, including those suitable for emerging therapies reliant on precise genotyping.
Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , México , MutaçãoRESUMO
BACKGROUND: Gingival lesions in patients with dystrophic epidermolysis bullosa (DEB) are a common manifestation. However, their clinical features, frequency and severity are currently unknown. METHODS: Forty-five DEB patients were assessed by an oral medicine specialist, who analysed the presence/absence of four clinical signs (erythema, erosion/ulcer, atrophy, blister) on free and attached gingiva, using the Epidermolysis Bullosa Oropharyngeal Severity score. RESULTS: Twenty-eight (62.2%) out of 45 DEB patients showed different types of gingival lesions, whose presence/absence and total frequency/distribution were not significantly different between males and females (p=0.087 and p=0.091, respectively). Erythema was the most prevalent lesion (66.2%) and the recessive DEB severe generalized (RDEB-sev gen) reached the highest median disease activity score. A significant correlation was observed between the DEB subtypes and the disease activity median score (p<0.001), but not between age and total disease activity score in each group of DEB (p>0.05). Lastly, logistic regression showed that only gender (p=0.031) and RDEB-sev gen (p=0.001) were risks factors for the presence of gingival lesions. CONCLUSIONS: Gingival lesions in DEB patients are a relatively common entity and may have multiple clinical aspects, emphasizing the need for thorough attention and awareness among dentists.
Assuntos
Epidermólise Bolhosa Distrófica/patologia , Doenças da Gengiva/patologia , Adolescente , Adulto , Vesícula/patologia , Criança , Pré-Escolar , Estudos Transversais , Epidermólise Bolhosa Distrófica/classificação , Eritema/patologia , Feminino , Doenças da Gengiva/classificação , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Úlceras Orais/patologia , Atrofia Periodontal/patologia , Prevalência , Fatores de Risco , Fatores Sexuais , Adulto JovemRESUMO
Previous investigations have attempted to correlate the genotype with the cutaneous phenotype in patients with epidermolysis bullosa (EB), but never with the oropharyngeal phenotype. Seventeen dystrophic EB (DEB) patients were genotyped for COL7A1 gene mutations and divided into five distinct groups. Oropharyngeal disease severity was assessed with the Epidermolysis Bullosa Oropharyngeal Severity (EBOS) score by an oral medicine specialist. The genotype-phenotype correlation was calculated by Kruskal-Wallis analysis of variance using the Mann-Whitney test, applying the Bonferroni correction. The most severe oropharyngeal phenotype was found in the group with the 2470insG/3948insT mutation, with a mean disease severity score of 18.50 ± 2.12; the mildest was found in the 6862del16 mutation group, with a mean disease severity score of 0.57 ± 1.13. The most significant difference in median score was found in the total score (P = 0.009), followed by tongue (P = 0.02) and upper lip (P = 0.021), but no correlation was found between disease severity and the groups (P>0.005, after Bonferroni correction). Multiple comparisons among the five different genotypic groups revealed no statistically significant genotype-oropharyngeal phenotype correlation; it was not possible to establish which group was more severe, or to associate a specific mutation to a specific oropharyngeal phenotype.
Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Doenças da Boca/genética , Adulto , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , México , Pessoa de Meia-Idade , Mutação , Fenótipo , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
Leprosy is a chronic granulomatous disease caused by the bacillus Mycobacterium leprae. It primarily affects the skin and peripheral nerves and is still endemic in various regions of the world. Clinical presentation depends on the patient's immune status at the time of infection and during the course of the disease. Leprosy is associated with disability and marginalization. Diagnosis is clinical and is made when the patient has at least 1 of the following cardinal signs specified by the World Health Organization: hypopigmented or erythematous macules with sensory loss; thickened peripheral nerves; or positive acid-fast skin smear or skin biopsy with loss of adnexa at affected sites. Leprosy is treated with a multidrug combination of rifampicin, clofazimine, and dapsone. Two main regimens are used depending on whether the patient has paucibacillary or multibacillary disease.
Assuntos
Hanseníase , Anticorpos Antibacterianos/sangue , Anticorpos Antibacterianos/imunologia , Antígenos de Bactérias/imunologia , Vacina BCG , Vacinas Bacterianas , Quimioterapia Combinada , Saúde Global , Glicolipídeos/imunologia , Humanos , Testes Intradérmicos , Antígeno de Mitsuda , Hansenostáticos/administração & dosagem , Hansenostáticos/efeitos adversos , Hansenostáticos/uso terapêutico , Hanseníase/classificação , Hanseníase/diagnóstico , Hanseníase/tratamento farmacológico , Hanseníase/epidemiologia , Hanseníase/microbiologia , Mycobacterium leprae/imunologia , Mycobacterium leprae/isolamento & purificação , Mycobacterium leprae/fisiologia , Testes Sorológicos/métodos , Pele/microbiologia , Pele/patologia , Especificidade da EspécieRESUMO
A pair of 2-year-old female monozygotic twins presented with short and brittle hair. There was marked reduction in hair density, and excessive curving of the eyelashes. Onychodystrophy was also evident. They also had developmental delay in verbal and motor skills. Neither their parents nor other relatives were known to be affected, and there was no history of consanguinity. Examination of the hair shaft under light microscopy showed trichoschisis, which was more evident under electron microscopy. Under polarized light, the hair shafts showed the pathognomonic 'tiger-tail' pattern. The level of sulphur in the hair was low. Both patients were negative for TTDN1 mutation. Clinical correlation was performed and the diagnosis of Sabinas syndrome was made. Sabinas syndrome is a very rare autosomal recessive disorder first described in a group of patients from a small community in north-eastern Mexico. It is diagnosable at birth, and its major symptoms include brittle hair, mental retardation and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy.
Assuntos
Doenças em Gêmeos/diagnóstico , Síndromes de Tricotiodistrofia/diagnóstico , Pré-Escolar , Doenças em Gêmeos/patologia , Feminino , Cabelo/ultraestrutura , Humanos , Síndromes de Tricotiodistrofia/classificação , Síndromes de Tricotiodistrofia/patologia , Gêmeos MonozigóticosRESUMO
We report a large Mexican kindred with a variant form of congenital universal hypertrichosis that is inherited in an apparent X-linked recessive manner. In addition to the generalized hypertrichosis, the affected individuals have dental malformations and deafness. Males are more severely affected than females who exhibit only mild hypertrichosis, but not deafness or dental anomalies. Haplotype analysis in this pedigree revealed linkage to a 13-cM region on chromosome Xq24-q27.1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development.