X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones.
We describe the case of a 13-year-old girl suffering from chondrodysplasia punctata, associated with ichthyosis arranged along Blaschko's lines, follicular atrophoderma, cicatricial alopecia and coarse, lusterless hair. The patient also showed a congenital cataract of the right eye, dysplastic facial appearance and symmetrical shortening of the tubular bones. The pathogenetic concept of functional X-chromosome mosaicism is reviewed as well as the recent results obtained by molecular research that have failed, so far, to solve the problem of regional assignment of the underlying X-linked gene.
Gobello
T
T
Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Mazzanti
C
C
Fileccia
P
P
Didona
B
B
Papi
M
M
Atzori
F
F
Cavalieri
R
R
D000293:Adolescent; D000505:Alopecia / Q000235:genetics; D001284:Atrophy; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002921:Cicatrix; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D007642:Keratosis / Q000235:genetics; D009030:Mosaicism / Q000235:genetics; D012867:Skin / Q000473:pathology; D014960:X Chromosome / Q000235:genetics