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Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system—a novel entity?
- Source :
- European Journal of Pediatrics. 169:495-500
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
Abstract
- The skin and the central nervous system are tissues of common ectodermal origin and share a close ontogenetic relationship. Genetic diseases primarily affecting both organ systems are regularly encountered in both dermatological and neurological settings. Here, we report on a boy with epileptic encephalopathy, severe intellectual disability, optic atrophy, and progressive cerebellar and supratentorial atrophy, reminiscent of progressive encephalopathy with edema and hypsarrythmia (PEHO) syndrome displaying a previously undescribed dyschromatosis in the form of progressive reticulate and mottled hyper- and hypopigmentation of the neck and the inguinal and axillary regions. We hypothesised that this combination of neurological and cutaneous findings has a common aetiology and represents a novel recognisable entity. Because of the unusual dermatological findings, we suggest the term dyschromatosis ptychotropica. Recognition of further cases may help elucidate the aetiology of this condition and give insight into the pathophysiology of both pigmentation disorders and epileptic encephalopathies.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Central nervous system
Diagnosis, Differential
Atrophy
Cerebellum
Edema
Intellectual disability
medicine
Humans
Pigmentation disorder
Hypopigmentation
Epilepsy
business.industry
Neurocutaneous Syndromes
Infant
medicine.disease
Pathophysiology
Optic Atrophy
medicine.anatomical_structure
Pediatrics, Perinatology and Child Health
Etiology
medicine.symptom
business
Pigmentation Disorders
Subjects
Details
- ISSN :
- 14321076 and 03406199
- Volume :
- 169
- Database :
- OpenAIRE
- Journal :
- European Journal of Pediatrics
- Accession number :
- edsair.doi.dedup.....09162a530d5af5943b2d1ab36af886b0