European Journal of Dermatology


Diagnosis: X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle Syndrome) Volume 11, issue 4, July - August 2001

Department of Dermatology, Philipp University, Deutschhausstr. 9, 35033 Marburg, Germany
  • Page(s) : 389-91
  • Published in: 2001

A 34-year-old woman was presented with a teleangiectatic nevus on her neck (Fig. 1) and patchy alopecia on her frontal scalp (Fig. 2). Further clinical examination revealed some areas of patchy and cicatrical alopecia with coarse and lusterless hair at the margin (Fig. 3). A third area showing erythematous atrophoderma (Fig. 4) was also observed. Histopathological examination of one of these areas showed hyperkeratosis, paucity of hair follicles and prominent dilation of infundibula with follicular plugging of the remaining hair follicles. Moreover, a dysplasia of the left hand (Fig. 5) and foot (Fig. 6) was noted. No other skin lesions could be found and blood chemistry was unremarkable. The patient was of normal mental development. None of her family members was affected by similar symptoms.