PAEDIATRIC RHEUMATOLOGY SERIES EDITOR: P. WOO PACHYDERMOPERIOSTOSIS IN CHILDHOOD

We report a family with pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy) spanning four generations with 10 aected individuals, four of whom are children although pachydermoperiostosis is rare in childhood. In this family, with intermarriage, the inheritance is autosomal recessive and it is possible that there are individuals who are homozygous for the pachydermoperiostosis gene. These individuals do not appear to be more severely aected, although one of them had a cleft palate and congenital heart defect which may be a manifestation of being homozygous. KEY WORDS: Pachydermoperiostosis, Childhood, Consanguinity, Clubbing, Sweating. PACHYDERMOPERIOSTOSIS was first described by Friedreich in 1868, who called it ‘Hyperostosis of the entire skeleton’. In 1935, three dermatologists, Touraine, Solente and Gole, recognized this condi-tion as a familial disorder with three forms: complete (periostosis and pachydermia), incomplete (without pachydermia) and the forme fruste (pachydermia with minimal skeletal changes) [1]. The diagnosis should only be made when at least two out of