Incontinentia pigmenti achromians (Ito)

Abstract

Three children had incontinentia pigmenti achromians (IPA). A study of these cases, together with a review of 70 previously documented cases, suggests that this dermatosis is closely related to systematized depigmented nevus and should be categorized as one of the congenital neurocutaneous diseases. There is also a relationship between IPA and incontinentia pigmenti.

Ocular Symptomatology in Familial Hypomelanosis Ito

“…Because the occurrence of the disease is rare (74 cases and only 10 families with manifestation in more than one gener ation), it is of course difficult to say whether some of these ocular changes may be assigned to the HI syndrome or whether it is a mere coincidence. In the changes that occur far more frequently than in the normal popula tion, such as strabismus [5,8,9,11,[13][14][15], and palpebral anomalies [8,9,11,[13][14][15][16], an in terrelationship with HI seems likely. Also in those ocular anomalies that are characterized by impaired pigmentation, such as iris dyspigmentations [5,8,9,13,17] and tapetoretinal dyspigmentations [14], already described as tesselated and 'salt and pepper' fundus [8,9,11,13], a connection seems feasible.…”

“…Since that time, only a little more than 70 cases with HI have been reported [8,9], and only 10 families were afflicted in more than one generation [5,10]. It is for this reason that the possibility of a hereditary factor has not been verified to date, yet an autosomal dominant mode seems very likely [5,[10][11][12].…”

Avaliação dos achados ao exame dos potenciais evocados do tronco cerebral em indivíduos com síndrome de West

“…No entanto, sua importância está na avaliação da disfunção cerebral na fase subclínica da doença. Além disso, a existência do defeito de condução neural presente na maioria dos pacientes com espasmo infantil, confirma o BERA como o método de escolha na avaliação do sistema nervoso central 13,14 .…”

Hypomelanosis of Ito in Three Cases with Autism and Autistic‐like Conditions

“…The aetiology of hypomelanosis of Ito is not known. Takematsu et al (1983) mention the possibility of an autosomal mode of inheritance. Mosaicisms in cultured fibroblasts, and to a lesser extent leukocytes, have been reported by a number of authors (Rott et al 1986), and it has been thought that this might be a reflection of pathogenetic mechanisms operating in the disorder.…”