Genodermatosis
Mostrando 1-12 de 25 artigos, teses e dissertações.
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1. Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1
Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of th
An. Bras. Dermatol.. Publicado em: 2021-08
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2. Case for diagnosis. Verrucous plaque on the pubic region,
Abstract Muir-Torre syndrome is a rare, autosomal dominant genodermatosis, characterized by sebaceous neoplasms and visceral carcinomas. The authors describe the case of a patient who, 16 years after the diagnosis of colon carcinoma, presented a verrucous plaque on the pubic region, histopathologically compatible with sebaceous adenoma. The need to investiga
An. Bras. Dermatol.. Publicado em: 2021-02
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3. Familial “benign” pemphigus? Erythroderma and fatal outcome,
Abstract Hailey-Hailey disease, or familial benign pemphigus, is a rare bullous genodermatosis that usually presents with flaccid blisters, erosions, and maceration limited to flexural areas, resulting in increased morbidity and reduced quality of life for affected patients. The authors report an unusual case of generalized Hailey-Hailey disease with erythro
An. Bras. Dermatol.. Publicado em: 2020-02
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4. Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity
Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical features and mutation of the KITLG gene in a Chinese family w
An. Bras. Dermatol.. Publicado em: 2017-06
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5. Do you know this syndrome? Clouston syndrome
Abstract Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotri
An. Bras. Dermatol.. Publicado em: 2017-06
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6. Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported
An. Bras. Dermatol.. Publicado em: 2017
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7. Phacomatosis pigmentovascularis of cesioflammea type
Abstract Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, ac
An. Bras. Dermatol.. Publicado em: 2016-10
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8. Clouston Syndrome: 25-year follow-up of a patient
Abstract: Clouston syndrome is a rare genodermatosis that affects skin and annexes. It is a form of ectodermal dysplasia characterized by generalized hypotrichosis, palmoplantar hyperkeratosis and nail dystrophy. This paper reports a 25-year follow-up of a patient with Clouston syndrome, from childhood to adulthood, monitoring diagnosis and clinical course o
An. Bras. Dermatol.. Publicado em: 2015-12
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9. Epidermolytic Hyperkeratosis - case report
Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the ski
An. Bras. Dermatol.. Publicado em: 2015-12
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10. Correlation between nutritional, hematological and infectious characteristics and classification of the type of epidermolysis bullosa of patients assisted at the Dermatology Clinic of the Hospital Universitário de Brasília
Abstract: Epidermolysis bullosa comprises a group of phenotypically different genodermatosis, hereditary or acquired, characterized by skin fragility and subsequent formation of blisters in response to mechanical trauma, and which may also affect mucous membranes. This study aimed to analyze the relation between the nutritional, hematologic, infectious chara
An. Bras. Dermatol.. Publicado em: 2015-12
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11. Syndrome in question
AbstractMuir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors. The sebaceous neoplasm may appear before, during or after the diagnosis of colorectal cancer. As it is regarded as a subtype of nonpolyposis hereditary colorectal cancer, it
An. Bras. Dermatol.. Publicado em: 2015-10
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12. Severe Darier's disease in a psychiatric patient
AbstractDarier’s disease is characterized by dense keratotic lesions in the seborrheic areas of the body such as scalp, forehead, nasolabial folds, trunk and inguinal region. It is a rare genodermatosis, an autosomal dominant inherited disease that may be associated with neuropsichiatric disorders. It is caused by ATPA2 gene mutation, presenting cutaneous
An. Bras. Dermatol.. Publicado em: 2015-06