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Novel autosomal recessive progressive hyperpigmentation syndrome
- Source :
- American Journal of Medical Genetics Part A. :195-199
- Publication Year :
- 2005
- Publisher :
- Wiley, 2005.
-
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.
- Subjects :
- Male
medicine.medical_specialty
Adolescent
Progressive hyperpigmentation
Genes, Recessive
Consanguinity
Sensitive skin
Genetics
medicine
Humans
Age of Onset
Child
Genetics (clinical)
Pigmentation disorder
Skin
Melanosome
Family Health
integumentary system
business.industry
Dystrophy
Syndrome
medicine.disease
Dermatology
Hyperpigmentation
Pedigree
Microscopy, Electron
Hair loss
Nails
Child, Preschool
Disease Progression
Female
medicine.symptom
business
Pigmentation Disorders
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....eaed78ca8570328444ad359696b9cd04