A case of neurocutaneous incontinentia pigmenti achromians (hypomelanosis of Ito)

2019 ◽  
Keyword(s):  
Incontinentia Pigmenti ◽  
Hypomelanosis Of Ito

Hypomelanosis of Ito

2018 ◽  
Vol 16 (05) ◽  
pp. 265-275 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Chiara Battaglini ◽  
Carmelo Schepis ◽  
Concetta Pirrone ◽  
...  
Keyword(s):  
Fungal Infections ◽  
Somatic Growth ◽  
Incontinentia Pigmenti ◽  
First Year ◽  
Hypomelanosis Of Ito ◽  
Genetic Mosaicism ◽  
Lines Of Blaschko ◽  
Endocrine Status ◽  
Neurocutaneous Syndrome ◽  
First Year Of Life

AbstractHypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1

1986 ◽  
Vol 74 (2) ◽  
pp. 185-187 ◽  
Author(s):  
Catherine Turleau ◽  
F. Taillard ◽  
Mireille Doussau de Bazignan ◽  
Nicole Delépine ◽  
J. C. Desbois ◽  
...  
Keyword(s):  
Incontinentia Pigmenti ◽  
Hypomelanosis Of Ito

Hypomelanosis of Ito (incontinentia pigmenti achromians): A neurocutaneous syndrome

1977 ◽  
Vol 90 (2) ◽  
pp. 236-240 ◽  
Author(s):  
Milford F. Schwartz ◽  
Nancy B. Esterly ◽  
David F. Fretzin ◽  
Eugene Pergament ◽  
Irving H. Rozenfeld
Keyword(s):  
Incontinentia Pigmenti ◽  
Hypomelanosis Of Ito ◽  
Neurocutaneous Syndrome

(6) Incontinentia pigmenti achromians (hypomelanosis of Ito)

1986 ◽  
Vol 115 (s30) ◽  
pp. 48-49
Author(s):  
S.S. Bleehen ◽  
S.B. Bittiner ◽  
B.L. Priestley
Keyword(s):  
Incontinentia Pigmenti ◽  
Hypomelanosis Of Ito

Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens)

Neurology ◽  
1996 ◽  
Vol 46 (2) ◽  
pp. 485-492 ◽  
Author(s):  
M. Ruggieri ◽  
G. Tigano ◽  
D. Mazzone ◽  
A. Tine ◽  
L. Pavone
Keyword(s):  
White Matter ◽  
Incontinentia Pigmenti ◽  
Hypomelanosis Of Ito
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