Incontinentia Pigmenti et Achromians

Abstract

A case is reported, apparently the first of its kind in the literature, of a female child in which there were not only pigmented lesions of incontinentia pigmenti but also hypopigmented lesions of incontinentia pigmenti achromians. The title incontinentia pigmenti et achromians is suggested for this combined disorder. The child also had associated lesions in the form of nail dystrophy, delayed dentition and epilepsy.

Chromosome mosaicism in hypomelanosis of Ito

“…Individual patients often had more than one type of anomaly. * [Okuwa and Kitamura, 1961;Koga, 1969;Grosshans et al, 1971;Maize et al, 1972;Jelinek et a]., 1973;Cram and Fukuyamo, 1974;Griffiths and Payne, 1975;Hellgren, 1975;Mittal et al, 1975;Browne and Byrne, 1976;Pfeiffer et al, 1976;Norlund et al, 1977;Pena et al, 1977;Schwartz et al, 1977;Stewart et al, 1979;Donat et al, 1980;Kukolich et al, 1980;Riccardi and Riccardi, 1980;David, 1981;Dotson and Raincr, 1981;Happle and Vakilzadeh, 1982;Ross et al, 1982;Takematsu et al, 1983;Fleury, 1983;Rosemberg e l al., 1984;Stricker et al, 1984;Flannery et al, 1985;E'ujimoto et al, 1985;Ishikawa et al, 1985;Miller and Parker, 1985;Ardinger and Bell, 11386;Cambazard et al, 1986;Donnai etal., 1986;Dunnet al, 1986;Fleury et al, 1986;Fkese and Judisch, 1986;Rott et al, 1986;Turleau et al, 1986;Bartholomew et al, 1987;Happle, 19871.…”

Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies

“…On the other hand, little is known about biopsies of IP skin lesions in the last stage 5,6 . Pathological studies of hypopigmented lesions have been rare and dated 5–12 . The aim of this study was to better characterize the histological pattern of IP skin lesions in late stages in order to evaluate if skin biopsy is helpful in adult IP diagnosis and to make pathologists aware of these histological features.…”

Incontinentia Pigmenti Achromians (Ito)

“…On the other hand there is other evidence to support a close clinical and histopathological relationship betweenIP and IPA (7,8,13,14).…”

“…The histopathological changes in IPA are not so remarkable. The horny, granular and prickle layers are almost normal (I), though some pa,pers report hyperkeratosis (2, 8), acanthosis (2,8), irregular elongation of the me ridges (3) and spongiosis (7). In the basal layer.…”