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
2018 ◽  
Vol 16 (05) ◽  
pp. 265-275 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Chiara Battaglini ◽  
Carmelo Schepis ◽  
Concetta Pirrone ◽  
...  

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.


1970 ◽  
Vol 42 (3) ◽  
pp. 231-233
Author(s):  
M Mukhtar-yola ◽  
LI Audu ◽  
AT Otuneye ◽  
AB Mairami ◽  
EC Otubelu ◽  
...  

Hypomelanosis of Ito (HI) though said to be the third most common neurocutaneus disorder, is rarely reported in paediatric practice in Africa. A high index of suspicion must be maintained in children with cutaneous lesions as a seizure may be the first symptom that may bring the child to attention. A case of HI in a neonate is hereby reported to sensitize clinicians about this relatively uncommon disorder


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

1979 ◽  
Vol 1 (4) ◽  
pp. 313-317 ◽  
Author(s):  
Keisuke Hamada ◽  
Tomoko Tanaka ◽  
Shozo Ohdo ◽  
Kunio Hayakawa ◽  
Ichiro Kikuchi ◽  
...  

1986 ◽  
Vol 115 (s30) ◽  
pp. 48-49
Author(s):  
S.S. Bleehen ◽  
S.B. Bittiner ◽  
B.L. Priestley

Neurology ◽  
1996 ◽  
Vol 46 (2) ◽  
pp. 485-492 ◽  
Author(s):  
M. Ruggieri ◽  
G. Tigano ◽  
D. Mazzone ◽  
A. Tine ◽  
L. Pavone

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