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Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Generalized Dowling-Degos disease.
Journal of the American Academy of Dermatology 2007 August
BACKGROUND: Dowling-Degos disease (DDD) is a rare inherited disease characterized by reticular hyperpigmentation on flexor surfaces.
OBJECTIVE: We sought to describe several cases of generalized DDD, a presentation that resemble dyschromatosis universalis hereditaria.
METHODS: The clinical manifestations, histopathologic, and genetic studies of a family with autosomal dominant inheritance were analyzed.
RESULTS: The father and his sister had reticular hyperpigmentation on flexor surfaces, whereas the daughter and son had generalized hyperpigmentation with numerous hypopigmented or erythematous macules and papules on the trunk and limbs. Skin biopsy specimens from both types of lesions all had typical features of DDD. Biopsy specimens from axillary skin had features of Galli-Galli disease, an acantholytic form. There were no mutations of the double-stranded RNA-specific adenosine deaminase or keratin 5 genes.
LIMITATION: Generalizations cannot be drawn from genetic study of only one family.
CONCLUSION: DDD can present with generalized hyperpigmentation and hypopigmented papules.
OBJECTIVE: We sought to describe several cases of generalized DDD, a presentation that resemble dyschromatosis universalis hereditaria.
METHODS: The clinical manifestations, histopathologic, and genetic studies of a family with autosomal dominant inheritance were analyzed.
RESULTS: The father and his sister had reticular hyperpigmentation on flexor surfaces, whereas the daughter and son had generalized hyperpigmentation with numerous hypopigmented or erythematous macules and papules on the trunk and limbs. Skin biopsy specimens from both types of lesions all had typical features of DDD. Biopsy specimens from axillary skin had features of Galli-Galli disease, an acantholytic form. There were no mutations of the double-stranded RNA-specific adenosine deaminase or keratin 5 genes.
LIMITATION: Generalizations cannot be drawn from genetic study of only one family.
CONCLUSION: DDD can present with generalized hyperpigmentation and hypopigmented papules.
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