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Novel autosomal recessive progressive hyperpigmentation syndrome

✍ Scribed by Ulrike Hüffmeier; Ingrid Hausser; André Reis; Anita Rauch

Book ID
101449854
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
306 KB
Volume
135A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We present a family of Iraqui origin with three siblings affected by a novel type of progressive hyperpigmentation syndrome. The generalized initially diffuse, later disseminated hyperpigmentation started in early infancy and increased during childhood. It also affected palms and soles, and the face but spared the cheeks. Additional features were dry, itchy and sunlight sensitive skin, dystrophy of toe nails, hair loss, and myopia, but normal sweat glands. Light and electron microscopy showed signs of pigment incontinence and compound melanosomes as well as fibrillar bodies. The occurrence of this entity in affected siblings from a consanguineous mating suggests autosomal recessive inheritance. Extensive review of the literature showed no previous report with this distinct combination of clinical and microscopic findings. © 2005 Wiley‐Liss, Inc.

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