Novel autosomal recessive progressive hyperpigmentation syndrome.
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.
Hüffmeier
Ulrike
U
Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Germany. uhueffm@humgenet.uni-erlangen.de
Hausser
Ingrid
I
Reis
André
A
Rauch
Anita
A
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D018450:Disease Progression; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009262:Nails / Q000473:pathology; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D013577:Syndrome