Incontinentia pigmenti achromians(ITO)

Abstract

Four new cases of Iτo’s Incontinentia pigmenti achromians developing in 1 family, the mother and her 3 daughters, are reported by the authors. Histopathological investigations of the skin show an irregular epidermic hypochromy without pigment loss in the upper dermis, decrease and morphological immaturity of melanocytes, disturbance of keratinization with growth of large clear cells and malformation of skin appendages. The pathological correlations of I. P. achromians (Iτo) and histopathological pecularities are similar to those of I. P. (Bloch-Sulzberger).

Ultrastructural Evolution of the Skin in Incontinentia pigmenti (Bloch-Sulzberger)

“…In this final stage of the disease, although the melanocytes are no longer active, there is no evidence at the moment to suggest that they either disappear or are replaced by Langerhans cells, as in vitiligo [1]. The state of affairs is much more akin to that reported in a somewhat similar condition, incontinentia pigmenti achromians (ITO) [3],…”

Familial hypomelanosis of Ito: Implications for genetic counselling

“…In the family by Sacrez et al [1970] and Grosshans et al [1971] the depigmented skin lesions seen in the three daughters became less obvious after the age of 3 years, histopathologic findings were not characteristic and, in addition, the skin biopsies showed decreased melanin granules but also atrophy of the sweat glands and aplasia of hair roots. Pinol et al [1969] described a mother with a zosteriform depigmented lesion that blistered repeatedly on sun and heat exposure, in whom they made the diagnosis of HI.…”

“…In the section on inheritance the authors state that: 1) "in nearly all cases, HI occurs sporadically with no affected sibs or parents"; 2) "there may be one familial HI case" [Grosshans et al, 1971;Sacrez et al, 1970]; 3) "There are two other families with affected males" (not described in the paper); 4) "in other publications that are suggestive of familial occurrence of HI, the diagnosis is doubtful" [Jelinek et al, 1973;Montagna et al, 1991;Rubin, 1972]; and that 5) "recessive inheritance in HI is unlikely" [David, 1981;Griffiths and Payne, 1975;Masumizu, 1963]. A description is also given of the HI families reported by Patrizi et al [1987] and Vormittag et al [1992] and on twin HI patients as reported by Zappella [1993].…”

“…In the two pedigrees used to support X-linked dominant inheritance [Grosshans et al, 1971;Pinol et al, 1969;Sacrez et al, 1970] the findings are now recognised as classic of incontinentia pigmenti (IP) of Bloch-Sulzberger type. In the family by Sacrez et al [1970] and Grosshans et al [1971] the depigmented skin lesions seen in the three daughters became less obvious after the age of 3 years, histopathologic findings were not characteristic and, in addition, the skin biopsies showed decreased melanin granules but also atrophy of the sweat glands and aplasia of hair roots.…”

Hypomelanosis of Ito: A Description, Not a Diagnosis.

“…Several modes of inberitance bave been proposed, all based on single case reports [4][5][6][7][8][9][10][11][12].…”