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)
• Progeria infantilis (Hutchinson-Gilford syndrome)
• Metageria
• Acrogeria gottron
• Progeria dwarf pigmentnaevi syndrome
• Cockayne syndrome (Progeria-like syndrome)
• Premature aging 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