A long differential diagnosis is a familiar scenario for many dermatologists caring for patients with inherited skin diseases, and no more so than when neonates present with dry, scaly, red, or eroded skin. An ability to make accurate diagnoses in such cases is often vitally important in patient management because the clinical course and prognosis of the conditions may vary widely—a real problem given the often overlapping and indistinguishable early physical signs.
For the perplexed clinician, some new diagnostic and prognostic help is at hand. Recent advances in understanding the molecular basis of more than 350 monogenic inherited diseases is now having a direct impact on patient care. The emerging translational benefits from genetics research are multiple: more accurate diagnoses, improved genotype-phenotype correlation, better genetic counseling, greater feasibility of DNA-based prenatal diagnosis, and new ideas about treatment, including gene,
protein, and cell therapies.
Clements SE, McGrath JA. Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses: Work Still in Progress. Arch Dermatol. 2008;144(3):387–388. doi:10.1001/archderm.144.3.387
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: