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Metabolic cutis laxa syndromes.
Miski Mohamed1, Dorus Kouwenberg, Thatjana Gardeitchik
1Institute for Genetic and Metabolic Disease, Radboud University Medical Centre Nijmegen, P.O Box 9101, 6500, HB, Nijmegen, The Netherlands.
Journal of Inherited Metabolic Disease
|March 25, 2011
Summary
Metabolic disorders can cause inherited cutis laxa, a rare skin condition with sagging skin due to defective extracellular matrix proteins. This review explores differential diagnoses for these complex genetic conditions.
Area of Science:
- Genetics
- Dermatology
- Metabolic Disorders
Background:
- Cutis laxa is a rare skin disorder with wrinkled, sagging skin caused by defective extracellular matrix proteins.
- While often acquired, syndromic forms result from genetic defects, including unexpected links to metabolic disorders.
- Menkes disease and Congenital Disorders of Glycosylation (CDG) are examples of metabolic diseases associated with inherited cutis laxa.
Purpose of the Study:
- To review metabolic diseases associated with inherited cutis laxa.
- To provide a practical approach for the differential diagnosis of metabolic cutis laxa syndromes.
- To highlight distinct clinical and laboratory features differentiating these conditions.
Main Methods:
- Literature review of genetic defects and metabolic disorders linked to cutis laxa.
- Analysis of clinical and laboratory features of various metabolic cutis laxa syndromes.
- Discussion of diagnostic challenges and approaches for genetically unsolved cases.
Main Results:
- Several inborn errors of metabolism, including COG7, P5CS, ATP6V0A2-CDG, and PYCR1 defects, are associated with inherited cutis laxa.
- These conditions present with variable severity and overlapping, yet distinct, clinical features.
- A significant portion of cutis laxa cases remain genetically unidentified.
Conclusions:
- Metabolic diseases represent an important, albeit complex, category of inherited cutis laxa.
- Differential diagnosis requires careful consideration of specific genetic defects and metabolic pathways.
- Further research is needed to elucidate the genetic basis of unsolved cutis laxa cases.
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