A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation
نویسندگان
چکیده
منابع مشابه
Mutations in POGLUT1 in Galli–Galli/Dowling–Degos disease
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...
متن کاملHeterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease
BACKGROUND Reticulate pigmentary disorders include the rare autosomal dominant Galli-Galli disease (GGD) and Dowling-Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis. OBJECTIVES To identify the underlying genetic defect ...
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Galli-Galli disease is a rare acantholytic variant of Dowling-Degos disease, with few cases reported in the literature. We describe a case of Galli-Galli disease and review the literature.
متن کامل[Galli-Galli disease presenting as lichenoid papules in the flexures].
Galli-Galli disease is a rare genodermatosis currently regarded as an acantholytic variant of Dowling-Degos disease. The 2 diseases have the same clinical features: reticular hyperpigmented macules in the great skin folds, erythematous scaly papules and plaques, comedo-like lesions, and pitted perioral scars, and the only differentiating characteristic is the histological finding of acantholysi...
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Echinocandins are the preferred therapy for invasive infections due to Candida krusei. We present here a case of clinical failure involving C. krusei with a characteristic FKS1 hot spot mutation not previously reported in C. krusei that was isolated after 14 days of treatment. Anidulafungin MICs were elevated by ≥ 5 dilution steps above the clinical breakpoint but by only 1 step for a Candida a...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2019
ISSN: 0001-5555
DOI: 10.2340/00015555-3119