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Published on: December 15, 2011
Cutis laxa in hereditary gelsolin amyloidosis
S Kiuru-Enari1, J Keski-Oja, M Haltia
1Department of Neurology, Helsinki University Central Hospital, Haartmaninkatu 4, FIN-00290 Helsinki, Finland. sari.kiuru-enari@hus.fi
The British Journal of Dermatology
|February 25, 2005
Summary
Hereditary gelsolin amyloidosis causes cutis laxa due to gelsolin amyloid deposition in skin elastic fibers. Amyloid P component may facilitate this deposition, leading to skin fragility and aging.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Hereditary gelsolin amyloidosis (AGel amyloidosis) is an age-associated systemic disease linked to gelsolin gene mutations, primarily manifesting as cutis laxa.
- The pathogenesis of this genodermatosis and its specific dermatological involvement remain poorly understood.
Observation:
- Skin biopsies from 12 AGel amyloidosis patients revealed characteristic cutis laxa, skin fragility, and bleeding tendencies.
- Histological analysis showed gelsolin amyloid (AGel) deposition in cutaneous structures, particularly around elastic fibers and blood vessels.
- Degeneration of elastic fibers, epidermal atrophy, and reduced dermal appendages were observed in affected skin.
Findings:
- Gelsolin amyloid (AGel) deposition was identified in the skin, primarily associated with basement membranes, dermal nerves, and elastic fibers.
- AGel colocalized with amyloid P component (AP) on elastic fibers, suggesting AP's role in amyloid deposition.
- A novel finding was the binding of antibodies to wild-type gelsolin with S-100-positive epidermal dendritic cells, with fewer such cells observed in patients.
Implications:
- Cutaneous AGel deposition and elastic fiber damage are key pathological features of AGel amyloidosis, contributing to age-related cutis laxa.
- Elastic fiber-associated AP may serve as a crucial matrix for cutaneous amyloid deposition in this condition.
- Understanding these mechanisms could inform future therapeutic strategies for AGel amyloidosis and related fibrotic disorders.
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