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{"id":5399,"date":"2019-03-22T15:13:30","date_gmt":"2019-03-22T15:13:30","guid":{"rendered":"https:\/\/primaderma.ro\/en\/?page_id=5399"},"modified":"2019-04-02T07:50:10","modified_gmt":"2019-04-02T07:50:10","slug":"sarbu-isabela-md-phd","status":"publish","type":"page","link":"https:\/\/pdi.ro\/en\/sarbu-isabela-md-phd\/","title":{"rendered":"S\u00e2rbu Isabela MD, PhD"},"content":{"rendered":"

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S\u00e2rbu Isabela MD, PhD<\/strong><\/span>
Faculty of Dental Medicine U.M.F. “Carol Davila” Bucharest<\/strong><\/span><\/h4>\n

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\n

Incontinentia pigmenti<\/span>
Author: Isabela S\u00e2rbu<\/span><\/p>\n

Incontinentia pigmenti (IP) is an affliction inherited in an X-linked dominant pattern which, in more than 95% of cases, affects female new-borns. The disease is generally lethal in males since the intrauterine period, except in patients with Klinefelter syndrome (XXY) or somatic mosaicism. It is a rare disease, with an overall prevalence of 1\/50 000 cases. The genodermatosis is complex, the cutaneous manifestations being associated with an oculo-dental-cerebral syndrome, its pathogenesis being related with the susceptibility of the cells presenting mutations in a gene situated in the Xq28 region on chromosome X towards the apoptosis determined by the tumor necrosis factor.
Clinically, the disease presents four evolution stages: the vesicular or inflammatory stage, the verrucous stage, the hyperpigmentation stage and the hypopigmentation stage. These stages however often overlap.
We present the case of a female new-born from a normal pregnancy, who, since birth, presented an eruption consisting initially of erythematous patches and later in vesicles and bullae, disseminated on the trunk and limbs. In the second day of life the patient presented generalized tonic-clonic seizures which were treated with diazepam. At presentation in the dermatology clinic, at the age of 14 days, we observed brownish patches with a reticular pattern, as well as vesicles, bullae and verrucous lesions.
We present a complex case of IP in which the interdisciplinary team including the dermatologist, neurologist, ophthalmologist, radiologist, paediatrician, as well as geneticist, dentist and family doctor is very important. Even though the dermatologist plays a central role in managing the cases, the prognosis of the disease is related to the severity of the extracutaneous manifestations.<\/p>\n

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Contact PDI 2019’s PCO<\/p>\n

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PCO of PDI 2019<\/p>\n

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\"\"<\/span><\/p>\n

<\/span><\/p>\n

<\/span><\/p>\n

Address: A. Panu St. no. 13, Iasi<\/span>
Tel.: +40 332.40.88.00-05<\/span>
E-mail: inscrieri@primaderma.ro<\/a>
<\/span>Website:\u00a0<\/span>
www.eventernet.ro<\/a><\/p>\n

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