title: Clinical study of 20 patients with incontinentia pigmenti.
abstract: BACKGROUND
  Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. As well as the skin, other tissues arising from the neuroectoderm may be affected.
  
  
  OBJECTIVE
  This study was designed to evaluate dermatologic, dental, neurologic, and ophthalmologic manifestations in patients with IP.
  
  
  METHODS
  Findings in IP patients and family members also diagnosed with IP in Porto Alegre, Brazil, during 2003-2012, were analyzed.
  
  
  RESULTS
  Thirteen children and seven relatives were diagnosed with IP; 38.4% of cases were familial, and 61.5% were sporadic. Mean ± standard deviation follow-up was 46.08 ± 39.47 months. Frequencies of 100% and 85.7% for dermatologic manifestations, 23.0% and 0% for neurologic manifestations, 62.5% and 71.4% for dental manifestations, and 11.1% and 42.8% for ophthalmologic manifestations were found in affected children and relatives, respectively. Associated diseases include Wilms' tumor, myasthenia gravis, Still's syndrome, and congenital hypothyroidism.
  
  
  CONCLUSIONS
  These findings reinforce the heterogeneity of dermatologic findings and the numerous extracutaneous manifestations requiring a multidisciplinary approach. The follow-up of patients with IP is important in the detection of serious associated diseases. The relationships between these disorders and IP raise the need for additional longitudinal studies with longterm monitoring of these patients. The management of IP in clinical practice may benefit from early efforts to detect associated diseases.
authors.affiliation: Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.|Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.
authors.forename: Claudia S
authors.initials: CS
authors.lastname: Poziomczyk
authors.affiliation: Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.|Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.
authors.forename: Renan R
authors.initials: RR
authors.lastname: Bonamigo
authors.affiliation: Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.
authors.forename: Fernanda D
authors.initials: FD
authors.lastname: Santa Maria
authors.affiliation: Department of Pathology Postgraduate Program, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.|Section of Clinical Genetics, Department of Clinical Medicine, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.
authors.forename: Paulo R G
authors.initials: PR
authors.lastname: Zen
authors.affiliation: Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.|Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Ana E
authors.initials: AE
authors.lastname: Kiszewski
mesh_terms: D001171:Arthritis, Juvenile / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000209:etiology; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007223:Infant; D007680:Kidney Neoplasms / Q000209:etiology*; D009157:Myasthenia Gravis / Q000209:etiology; D009264:Nails, Malformed / Q000209:etiology; D014071:Tooth Abnormalities / Q000209:etiology*; D009396:Wilms Tumor / Q000209:etiology*