ABSTRACT
Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ2=11.292,P=0.001)and anal stenosis(χ2=4.014,P=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Young Adult , Ainhum , Blister , Carcinoma, Squamous Cell , Constriction, Pathologic , Deglutition Disorders/complications , Epidermolysis Bullosa , Inflammation , Keratoderma, Palmoplantar/complications , Membrane Proteins , Mutation , Neoplasm Proteins/genetics , Periodontal Diseases , Photosensitivity Disorders , Urethral Stricture/complicationsABSTRACT
A ceratodermia hereditária mutilante ou síndrome de Vohwinkel é afecção dermatológica rara caracterizada pelo espessamento cutâneo das palmas, plantas e dorso de mãos e pés, e por constrições em faixa dos dedos (pseudoainhum). São relatados três casos em uma família, envolvendo duas gerações. Em todos havia, adicionalmente, perda auditiva neurossensorial. Discutem-se o diagnóstico diferencial com outras ceratodermias palmoplantares e o tratamento com retinóides. Trata-se da primeira descrição dessa entidade no Brasil
Subject(s)
Humans , Ainhum , Keratoderma, PalmoplantarABSTRACT
Resumo: Neste artigo é apresentado um novo caso de ainhum (daciliólise espontânea). Os aspectos clínicos e radiológicos säo discutidos, juntamente com uma revisäo da literatura.
Subject(s)
Humans , Female , Adult , Ainhum , Ainhum/diagnosis , Ainhum/pathologyABSTRACT
Os autores relatam um caso de ainhum, bilateral em um paciente negro de 49 anos de idade. Säo discutidas suas manifestaçoes clínicas, aspectos etitológicos, radiológicos, histopatológicos e tratamento dessa afecçäo. Chama a atençäo o fato de que, embora vários casos já tenham sido relatados no mundo e no Brasil - particularmente na Bahia -, essa patologia descrita em 1867 ainda permanece relativamente mal estudada na literatura ortopédica recente. Trata-se, portanto, de um resgate histórico e científico dessa patologia mutilante do pé, que afeta particularmente a raça negra.
Subject(s)
Humans , Male , Middle Aged , Ainhum/diagnosis , Ainhum , Ainhum/pathologyABSTRACT
Se presenta un caso de enfermedad de ainhum (dactilolisis espontánea) al que se realiza la desarticulación quirúrgica de ambos quintos dedos de los pies
Subject(s)
Middle Aged , Humans , Male , Ainhum/surgery , Disarticulation , Toes/surgeryABSTRACT
Se presenta un caso de dactylolisis criptogenética familiar. Se analiza su incidencia en edad, sexo y raza y se exponen las distintas teorías actuales de su etiología. Se describen sus aspectos histológicos, así como el cuadro clínico en esta entidad. Se realiza un estudio del diagnóstico positivo y diferencial. Se esboza el tratamiento que se siguió en nuestro caso, así como los resultados del mismo
Subject(s)
Middle Aged , Humans , Female , Ainhum/genetics , Ainhum/diagnosis , Ainhum/therapy , Diagnosis, DifferentialABSTRACT
AINHUM which has been described as one of the conditions to be differentiated from leprosy was met in the field in a village of Andhra Pradesh. The condition was found in a young adult male involving both the little toes. It was found to be slow progressive associated with pain.
Subject(s)
Adult , Ainhum/diagnosis , Diagnosis, Differential , Humans , India , Leprosy/diagnosis , MaleABSTRACT
O ainhum e uma doenca curiosa, rara, de causa desconhecida, que acomete mais as pessoas de raca negra. A lesao constituise de um anel fibroso, que atinge, geralmente o 5o. pododactilo e, ao evoluir, produz a sua eversao, aumento de volume, tornando-se a superficie rugosa. Pode ocorrer amputacao espontanea. Neste artigo o autor apresenta sete casos de ainhum, comparando e discutindo os seus achados com os dados encontrados na revisao bibliografica realizada sobre o assunto