Generalized Dowling-Degos disease.
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.


CONCLUSIONS
Generalizations cannot be drawn from genetic study of only one family.


CONCLUSIONS
DDD can present with generalized hyperpigmentation and hypopigmented papules.
Wu
Yu-Hung
YH
Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan. yuhung_wu@yahoo.com
Lin
Yang-Chih
YC
D000051:Acantholysis / Q000473:pathology; D000243:Adenosine Deaminase / Q000235:genetics; D000328:Adult; D001365:Axilla; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology*; D017496:Hypopigmentation / Q000235:genetics / Q000473:pathology; D053555:Keratin-5 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000473:pathology; D016601:RNA-Binding Proteins; D012867:Skin / Q000473:pathology
D053555:Keratin-5; D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase