Hutchinson-Gilford progeria syndrome with severe skin calcinosis

Clin Exp Dermatol. 2007 Sep;32(5):525-8. doi: 10.1111/j.1365-2230.2007.02432.x. Epub 2007 Apr 24.

Abstract

We describe a case of Hutchinson-Gilford progeria syndrome (HGPS) with long-term follow-up. A 1-month-old girl with marked sclerodermatous skin changes developed various symptoms of HGPS during follow-up. These included sclerotic skin, pigmentation, skin atrophy with translucent veins, wispy hair and alopecia, nail dystrophy and decreased sweating. Marked skin calcinosis was observed over almost the entire body, a symptom that has apparently been ignored in the literature. At 16 years old, the girl underwent surgery for a skull fracture and subdural haematoma, which was followed by chronic ulceration. Wet dressing with insulin-like growth factor was used with considerable effect. Mutation of the lamin A/C (LMNA) gene mutation, which encodes nuclear lamin A and C, has been reported to be the cause of HGPS. Our case showed the mutation G608G (GGC-->GGT), which resulted in a cryptic splice site and consequently in a truncated lamin A/C protein.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Calcinosis* / genetics
  • Calcinosis* / pathology
  • Child
  • Child, Preschool
  • Disease Progression
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Lamins / genetics*
  • Mutation / genetics*
  • Progeria* / genetics
  • Progeria* / pathology
  • Skin Diseases* / genetics
  • Skin Diseases* / pathology

Substances

  • Lamins