Hutchinson-Gilford progeria syndrome with severe skin calcinosis.
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.
Nakamura
S
S
Department of Dermatology, Asahikawa Medical College, Asahikawa, and Takagi Dermatological Clinic, Nishi, Hokkaido, Japan. namu@asahikawa-med.ac.jp
Makita
Y
Y
Takagi
A
A
Hashimoto
Y
Y
Takahashi
H
H
Ishida-Yamamoto
A
A
Iizuka
H
H
D000293:Adolescent; D002114:Calcinosis / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D034882:Lamins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011371:Progeria / Q000235:genetics / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology
D034882:Lamins