| pubmed-article:2527874 | pubmed:abstractText | A family with Conradi-Hünermann syndrome was identified after a scaly, erythrodermic neonate was seen. Although examination of the female infant yielded no specific findings suggestive of the syndrome, her mother and maternal great-grandmother had features that allowed the diagnosis to be made. Only after 5 months did the streaky hyperkeratotic pattern characteristic of the syndrome develop in the child. Family members bore other stigmata, including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs. The pattern of inheritance in this family is compatible with that of an X-linked dominant genodermatosis with variable expression. Histopathologic findings from skin biopsy specimens were psoriasiform rather than ichthyotic. Decreased peroxisomal enzyme activity was discovered on fibroblast cultures, linking this syndrome with other peroxisomal disorders. Treatment with oral bezafibrate and clofibrate, which are potential inducers of hepatic peroxisomes, did not result in clinical improvement. It is recommended that usage of the term chondrodysplasia punctata be restricted to the descriptive radiologic finding of stippled calcifications and that Conradi-Hünermann syndrome refer only to the disease described herein, which is transmitted as an X-linked dominant trait. | lld:pubmed |
