Abstract
Metabolic disorders, both inherited and acquired, result from enzyme deficiency or overload, leading to accumulation or deficiency of a specific metabolite. These are generally multisystem disorders and frequently present with cutaneous features. Knowledge and recognition of these cutaneous features by the paediatric dermatologist can lead to early diagnosis and initiation of therapy, and there is evidence that early management may improve outcome in some diseases. This chapter discusses the cutaneous manifestations and management of metabolic diseases.
| Original language | English |
|---|---|
| Title of host publication | Harper's Textbook of Pediatric Dermatology |
| Publisher | wiley |
| Pages | 1965-1987 |
| Number of pages | 23 |
| ISBN (Electronic) | 9781119142812 |
| ISBN (Print) | 9781119142195 |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
Keywords
- Acrodermatitis enteropathica-like
- Acrokeratoelastoidosis
- Alkaptonuria
- Alopecia
- Angiokeratoma corporis diffusum
- Biotinidase deficiency
- Carotenaemia
- Collodion baby
- Ectopis lentis
- Fabry
- Farber lipogranulomatosis
- Fucosidosis
- Gaucher disease
- Gm1 gangliosidosis
- Hartnup disease
- Homocystinuria
- Hyperlipoproteinaemia
- Hypohidrosis
- Ichthyosis
- Methylmalonic aciduria
- Mongolian spots
- Mucopolysaccharidoses
- Ochronosis
- Oculocutaneous tyrosinaemia
- Pellagra-like appearance
- Phenylketonuria
- Prolidase deficiency
- Propionic aciduria
- Schindler disease
- Subcutaneous nodules
- Telangiectasia
- Transaldolase deficiency
- Tyrosinaemia type II
- Ulcers
- Xanthomatosis
ASJC Scopus subject areas
- General Medicine