New progeroid disorder.
We report on a 10-year-old Caucasian male with a prematurely aged appearance, delayed bone maturation and dental development, pronounced acro-osteolysis with brachydactyly, and distinctive cutaneous findings including hard, confluent skin lesions with some clinical and histologic resemblance to those of juvenile hyaline fibromatosis (JHF). He also had hyperopia, sensorineural hearing loss, and elevated TSH. Linear growth and intellectual functions were normal. We believe that this patient represents a new progeroid disorder.
Penttinen
M
M
Clinical Genetics Unit, Turku University Central Hospital, Finland.
Niemi
K M
KM
Vinkka-Puhakka
H
H
Johansson
R
R
Aula
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D001706:Biopsy; D002648:Child; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010641:Phenotype; D011371:Progeria / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000648:ultrastructure; D015595:Skin Aging / Q000473:pathology / Q000502:physiology; D013577:Syndrome; D014965:X-Rays