نتایج جستجو برای: degos disease
تعداد نتایج: 1490121 فیلتر نتایج به سال:
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A biopsy showed lacy, finger-like epidermal extensions into the dermis which were heavily pigmented and associated with tiny cysts or dilated fo...
DEAR EDITOR, The group of reticulate pigmentary disorders includes the rare autosomal dominant Dowling–Degos disease (DDD) and Galli–Galli disease (GGD; OMIM 179850, 615327 and 615696). 1 In light of substantial clinical, histological and mutational overlap between GGD and DDD, they are considered to belong to the same entity. 2,3 Mutations in KRT5 (encoding keratin 5) have been associated with...
To Editor: We read with interest the article of Dr. Lima on Malignant Atrophic Papulosis (MAP) or Degos Disease (DD) 1. This rare disease is an occlusive vasculopathy characterized by skin lesions and systemic involvement. DD is a potentially life-threatening disease, mainly the involvement of inner organs (bowel perforation and peritonitis, massive cerebral haemorrhage, thrombosis of the cereb...
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative g...
Dowling-Degos disease (DDD) or reticular pigmented anomaly of the flexures is a rare autosomal dominant genodermatosis with variable penetrance. It mainly affects young women and is characterized by acquired reticular hyperpigmentation of the large skin folds. We present a case of DDD associated with hidradenitis suppurativa (HS) in a 43-year-old Spanish woman. Physical examination revealed bro...
Dr. Felipe Slaviero – Serviço de Neurologia e Neurocirurgia Rua Teixeira Soares 640 99010-901 Passo Fundo RS Brasil. E-mail: [email protected] The malignant atrophic papulosis (MAP) was first described by Köhlmeier in 1941 and recognized as a specific entity by Degos in 1942. This rare disorder is an obstructive vasculopathy of unknown origin, characterized by vascular lesions of the s...
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