Progeria (overview) E34.8

Heterogeneous group of hereditary diseases (aging syndromes), which are clinically characterized by pathological, premature aging (see also skin aging) with atrophic, wrinkled skin. Poikiloderma or scleroderma-like changes may be present. Differentiation between generalized and localized clinical pictures.

Clinically, the following (genetically different) syndromes can be summarized, whose clinical commonality is given by the premature aging of the patients:

• Progeria adultorum (Werner syndrome - mutation in WRN gene)
• Progeria infantilis (Hutchinson-Gilford syndrome mutation in LMNA (laminin) gene)
• Metageria
• Acrogeria Gottron
• Progeria-pigmentnaevi syndrome
• Cockayne syndrome (Progeria-like syndrome - mutations in ERCC gene and ERCC6 gene - leads to impairment to repair DNA damage)
• Brittle hair syndrome (mutation in KRT17 gene)
• Lamy syndrome (mutation in LMNA gene)
• Dyskeratosis congenita (dysfunction of the dyskerin)
• Premature ageing syndrome, type pentinnen

1. Chu Y et al (2015) Hutchinson-Gilford progeria syndrome caused by anLMNA mutation: a case report. Pediatr Dermatol 32:271-275
2. Gilkes JJH et al (1974) The premature ageing syndromes. Br J Dermatol. 91: 243-262

3. Johnston J et al (2015) A point mutation in PDGFRB causes autosomal-dominant penttinen syndrome. Am J Hum Genet 97: 465-474.

4. Miyamoto MI et al (2014) Atherosclerosis in ancient humans, accelerated aging syndromes and normal aging: is lamin a protein a common link? Glob Heart 9:211-218