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Published on: May 18, 2018
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Inherited skin tumour syndromes
Sarah Brown1, Paul Brennan1, Neil Rajan1
1Institute of Genetic Medicine, Centre for Life, Newcastle upon Tyne, UK.
Clinical Medicine (London, England)
|December 3, 2017
Summary
Multiple inherited cutaneous tumors, known as skin appendage tumors, can signal underlying genetic conditions. Early diagnosis through biopsy and genetic testing is crucial for patient care.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Skin appendage tumors, arising from hair, sweat, or sebaceous glands, are uncommon but can indicate genetic disorders.
- Multiple cutaneous tumors may suggest an inherited condition, even without clear clinical diagnostic features.
Purpose of the Study:
- To review genetic skin conditions characterized by multiple inherited cutaneous tumors.
- To highlight the importance of biopsy and dermatopathological assessment in diagnosing these conditions.
- To discuss advances in genetic discovery and guide considerations for geneticist referral.
Main Methods:
- Literature review of genetic skin conditions with multiple inherited cutaneous tumors.
- Discussion of dermatopathological assessment and its role in guiding genetic testing.
- Overview of known causative genes for appendageal tumors.
Main Results:
- Certain skin appendage tumors, especially when multiple, are indicators of underlying genetic syndromes.
- Biopsy and dermatopathological findings, combined with clinical assessment, are essential for diagnosis.
- Genetic testing is increasingly feasible due to known causative genes.
Conclusions:
- Prompt recognition and diagnosis of inherited cutaneous tumors are vital for patient management.
- Genetic counseling and testing should be considered when multiple appendageal tumors are identified.
- Advances in genetic research are improving the diagnostic pathway for these rare conditions.
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