1/3. ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome).Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-Hunermann syndrome. We present two newborns with characteristic ichthyosiform erythroderma noted at birth. Radiographs demonstrated chondrodysplasia punctata in one patient. Although the x-ray performed at birth was negative in the other patient, sterol analyses of the keratotic scales were diagnostic for CDPX2. skin biopsies from both patients showed thick laminated orthokeratosis and prominent keratotic follicular plugs containing dystrophic calcification. We also retrospectively examined 20 cases of various types of ichthyosis seen over a 23-year period at our institution. Intracorneal calcium deposition was not seen in any of these cases. As demonstrated by our cases and review of the literature, dystrophic calcification in the keratotic plug is a distinctive histopathologic feature of Conradi-Hunermann-Happle syndrome in newborns and is not seen in other known forms of ichthyoses.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
2/3. Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.This paper suggests that there is probably a dominant, sex-linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with chondrodysplasia punctata reported in the literature belong to the dominant sex-linked type.- - - - - - - - - - ranking = 1.5keywords = x-linked (Clic here for more details about this article) |
3/3. sex-linked chondrodysplasia punctata?Widespread atrophic lesions and pigmentary disturbances of the skin distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi-Hunermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X-linked dominant trait lethal in hemizygous males.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |