. 2014 Oct 9;8:333. doi: 10.1186/1752-1947-8-333

Table 1.

Reported case of familial hypomelanosis of Ito (HMI)

Citation	Year	Authors	HMI affected Members	Systemic features	Karyotype
[16]	1963	Masumizu	Parents	None	Not performed
[17]	1969	Piñol et al.	Mother and her daughter	Myopia, chorioretinal and retinal pigment epithelium atrophy in the right eye	Not performed
[7]	1970	Sacrez et al.	Mother and three daughters	Congenital encephalopathy	Normal (peripheral lymphocytes)
	1970	Sacrez et al.	Mother and three daughters	Congenital encephalopathy	(performed only in one daughter)
[8]	1971	Grosshans et al.	Mother and three daughters	Marked psychomotor retardation, strabismus, hypodontia and skeletal dysplasia	Not performed
[18]	1972	Rubin	Two brothers, sister, father and paternal uncle	None	Not performed
[19]	1973	Jelinek et al.	Distant and deceased relatives, paternal great aunt	Epileptic seizures and strabismus	Not performed
[9]	1974	Cram and Fukuyama	Child, his mother and his maternal grandfather	Epileptic seizures	Not performed
[20]	1975	Hellgren	Mother, sister and brother	Macrocheilia, iris pigmented spots and hair anomalies	Not performed
[21]	1975	Griffiths and Payne	Mother and father (first cousins)	Ocular hypertelorism, nails and fingers anomalies	Not performed
[22]	1977	Schwartz et al.	Nephew and maternal grandmother	Epileptic seizures, retardation, macrocephaly, delayed closure anterior fontanelle, leg length discrepancy, scoliosis and iridial heterochromia	Not performed
[10]	1987	Patrizi et al.	Mother and two sibs	Neurological symptoms	Not performed
[23]	1990	Amon et al.	Mother and daughter	Ocular symptomatology	Deletion of chromosome 15
	1990	Amon et al.	Mother and daughter	Ocular symptomatology	(peripheral lymphocytes and fibroblasts)
[24]	1991	Montagna et al.	Mother and two sibs	Mental and cerebellar signs, organic psychosis	Normal (peripheral lymphocytes)
[3]	1992	Vormittag et al.	Mother and daughter	Epileptic seizures, ophthalmologic abnormalities, scoliosis and lordosis	Normal (peripheral lymphocytes)
	1992	Vormittag et al.	Mother and daughter		Tetraploidy in #2 (23%), #5 (11%), #11 and #14 (6%), #18 and #21 (2%) (fibroblasts)
[11]	1993	Zappella	A pair of monozygotic and a pair of dizygotic twins	Autism, delayed psychomotor development and microcephaly	Normal (peripheral lymphocytes)
	2014	Ponti et al.	Father and daughter	None	Normal (peripheral lymphocytes)
	2014	Ponti et al.	Father and daughter	None	Paternal trisomy 2 (fibroblasts)