[Incontinentia pigmenti. Study of 7 cases, 2 in men (author's transl)].
We describe 7 observations of incontinentia pigmenti (0.0026 p. 100 of the patients visited in the Department of Medical-Surgical Dermatology, Faculty of Medicine, University of Granada). Two cases with congenital pigmentation and one of these with secondary inflammatory lesions. The electron microscopy shows relation between the classic stages of the process. In two patients there were defects of the Central Nervous System: brain paralysis and microcephaly. Only two patients with blood eosinophilia (13 p. 100-21 p. 100). Evolution benign, except in the case with brain paralysis. There were familiar antecedents in three women and these were not found in two women and two men with normal karyotype. It suggests a mutation. This study has shown a high rate men/women: 2/5; in comparison to other series. We think that it is possible for a mutation and that this disease is more frequent than it seems. It is necessary to think in this disease in all pigmentary abnormalities in children.
D002547:Cerebral Palsy / Q000150:complications; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology*; D012737:Sex Factors; D014960:X Chromosome
Incontinentia pigmenti. Etude de 7 cas dont 2 mâles.