PSENEN mutations underlie Dowling-Degos disease associated with acne inversa
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منابع مشابه
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in K...
متن کاملAssociation of Dowling-Degos disease and multiple seborrheick-eratosis in a “Christmas tree pattern”
Dowling-Degos disease is a rare sporadic or autosomal dominant pigmentary entity, in which clusters of papules and reticulate macules slowly develop with predominance in flexural regions. This entity is due to mutations in the keratin 5 gene, and is related with other cutaneous disorders. We report the sporadic form of Dowling-Degos disease in an elderly man with multiple seborrheickeratosis ...
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Dowling –Degos disease is a rare condition. It is inherited by an autosomal dominant gene. It usually presents in adult life as small, pigmented, asymptomatic macules in flexural regions. We report a 35-year-old woman with Dowling- Degos disease, in whom the reticular pigmentation confined to the genital area.
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متن کاملAssociation of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern"
Dowling-Degos disease is a rare sporadic or autosomal dominant pigmentary entity, in which clusters of papules and reticulate macules slowly develop with predominance in flexural regions. This entity is due to mutations in the keratin 5 gene, and is related with other cutaneous disorders. We report the sporadic form of Dowling-Degos disease in an elderly man with multiple seborrheic keratosis i...
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