• Archives of Plastic Surgery
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• v.49 no.3
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• pp.418-422
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• 2022

Acquired cutis laxa is a rare disease. Owing to few reports on the condition, no statistical data have been produced. Cutis laxa is characterized by drooping skin, caused by decreased levels of dermal elastin, leading to reduced skin elasticity. The disease usually emerges on the neck or trunk and spreads throughout the body; however, it rarely involves the extremities. Moreover, cases localized to the face are rare. The objective of this clinical case report was to highlight this unusual disease in a 24-year-old female, with localization on the face and neck. The patient underwent surgery for treatment of bilateral ear lobe and eyelid skin laxity.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.90-92
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• 2022

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.