منابع مشابه
Do you know this syndrome? Werner syndrome*
Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolesc...
متن کاملDo you know this syndrome?*
Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndro...
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Laugier-Hunziker syndrome is an acquired macular hyperpigmentation of the oral and genital mucosa, often associated with longitudinal melanonychia. We report a case of longitudinal melanonychia on fingernails and toenails, hutchinson's signal and lenticular pigmentation of her lips and oral mucosa. Histopathological analysis is typical and had a broad differential diagnosis. This is a rare and ...
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The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnos...
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POEMS syndrome is a unique clinical entity, the diagnosis of which is made when polyneuropathy and monoclonal gammopathy occur together, associated with other changes such as organomegaly, endocrinopathy, skin changes and papilledema. Cutaneous manifestations are heterogeneous, with diffuse cutaneous hyperpigmentation, hemangiomas and hypertrichosis occurring more frequently. We report the case...
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ژورنال
عنوان ژورنال: Anais Brasileiros de Dermatologia
سال: 2017
ISSN: 0365-0596
DOI: 10.1590/abd1806-4841.20174640