Hypomelanosis Of Ito Research Articles

Linear and Whorled Nevoid Hypermelanosis

A case of hyperpigmentation distributed in streaks and whorls was recently delineated and separated from a confusing number of pigmentary disorders. A 13-year-old boy had hyperpigmented, reticulate spots on his trunk and neck in a linear and whorled distribution following the lines of Blaschko. Onset was at age 1 year. Histologically, the spots showed increased melanin in the basal layer of the epidermis, but no increase in melanocytes, incontinence of pigment, or melanophages were seen in the dermis. The karyotype was 46,XY and there was no evidence of chromosomal mosaicism or chimerism. This entity represents a disorder separated recently from other pigmentary alterations that follow Blaschko lines, such as Bloch-Sulzberger incontinentia pigmenti, hypomelanosis of Ito, early systematized epidermal nevus, and chimerism.

Hypomelanosis of ito: Infrequent cause of mental retardation and convulsions

Hypomelanosis of ito: Infrequent cause of mental retardation and convulsions

Hypomelanosis of ITO: MRI results in 14 patients

Hypomelanosis of ITO: MRI results in 14 patients

Hypomelanosis of ito is frequently associated with autism.

Twenty-five children with hypomelanosis of Ito are reported: 10 of them had autism, 3 showed autistic-like features, 1 had previously shown autistic features which had subsequently faded, 2 had disintegrative psychosis. The 9 remaining children were all mentally retarded and 5 of them were more markedly retarded in their speech development. The hypothesis is considered that a dysfunction of melatonin may favour the development of both skin depigmentation and autistic behaviour through an altered production of corticotrophin-releasing hormone and, in turn, of proopiomelanocortin.

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.

The region of mouse Chromosome (Chr) 7 containing the mouse pink-eyed dilution locus, p, is syntenic with human chromosome 15q11-q13, a region associated with three human syndromes, Prader-Willi syndrome (PWS), Angelman syndrome (AS), and a form of hypomelanosis of Ito (HI). Because some mutant alleles of p also share a subset of phenotypes with PWS, AS, and HI, the same gene or genes disrupted by p locus mutations are potentially involved in the phenotypes of PWS, AS, and HI.

The Ocular Changes of Incontinentia Pigmenti Achromians (Hypomelanosis of Ito)

Incontinentia pigmenti achromians is a multisystem hereditary disorder characterized specifically by a whorled or streaked cutaneous hypopigmentation and frequently characterized by numerous neurologic, musculoskeletal, and ocular abnormalities. We present a patient with incontinentia pigmenti achromians in whom the ocular abnormalities included the commonly reported exotropia, myopia, small optic nerve, and hypopigmentation of the fundus, as well as rarely reported corneal asymmetry, pannus, and atropic irides with irregular pupillary margins. The patient also had a cataract in the right eye and a retinal detachment in the left eye.

Familial Hypomelanosis of Ito

Two siblings presented the typical skin changes of hypomelanosis of Ito (HI) associated with mental and cerebellar signs. Their mother showed only the skin changes of HI but no neurological disturbances. HI is a hereditary disorder, in which familiarity may go unnoticed because of the different expressions of neural and cutaneous features.

Cranial MR Imaging in Hypomelanosis of Ito

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome frequently associated with neurologic abnormalities. Approximately 95 cases have been reported in the literature. Intracranial findings demonstrated by magnetic resonance imaging in a patient with HI include hemimegalencephaly, abnormal white matter signal, and small discrete bilateral periventricular cysts. No gray matter heterotopias or other migrational abnormalities were identified. Periventricular cystic lesions have not been described previously in this condition.

Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism

We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectodermal disorder appears to be a nonspecific manifestation of chromosome mosaicism.

Hypomelanosis of ito: Spectrum of the disease

Nineteen children with hypomelanosis of Ito are described. Fourteen were developmentally delayed and nine had a history of seizures. Hemihypertrophy was present in four patients, syndactyly in three, and scoliosis in one. Twelve of the children had abnormal electroencephalograms and nine had abnormal brain scans, four with appearances suggestive of abnormal neuronal migration. There is very little evidence, either from the literature or from our patients, that the disease is inherited. The pattern of the cutaneous lesions suggests that the condition may result from the presence of two different cell populations as a result of mosaicism.

Pigmentary disorders in oriental skin

Brown hyperpigmented disorders may be melanotic in which there is a normal number of epidermal melanocytes but melanin pigment is increased in the epidermis (eg, melasma), melanocytotic, in which melanocytes are increased (eg, cafe-au-lait macules), and nonmelanotic hyperpigmentation (eg, minocycline pigmentation). Blue hyperpigmented disorders may also be melanotic in which there is a normal number of epidermal melanocytes, but melanin pigment is present in the upper dermis (eg, gray/slate pigmentation in Riehl's melanosis), melanocytotic in which melanocytes are present in both the epidermis and dermis (eg, blue pigmentation in Nevus Ota and Mongolian spot), and nonmelanotic hyperpigmentation in which pigment is present in the deep dermis (eg, blue pigmentation in tattoos). Hypomelanosis (leukoderma) may be divided histopathologically into melanocytopenic disorders on which melanocytes are absent (eg, Vogt-Koyanagi-Harada syndrome and vitiligo), melanopenic disorders in which melanocytes are present but melanin is reduced (eg, nevus depigmentosus and incontinentia pigmenti achromians), and nonmelanotic disorders in which melanin pigmentation is unaffected (nevus anemicus) and the pigmentary abnormality is caused by something other than melanin.There are numerous pigmentary disorders in the oriental skin, and some of them are either characteristic to or established in the orientals. Importantly, a number of congenital hypermelanotic and hypomelanotic diseases (eg, nevus depigmentosus, incontinentia pigmenti. and incontinentia pigmenti achromians, take a distribution following to the Blaschko's line.

A sweating abnormality in incontinentia pigmenti

Three women presented with pale hairless streaks on the limbs as the only remaining sign of incontinentia pigmenti (IP). Seven other women in whom IP had been diagnosed in infancy were re-examined and this sign was present in all and in the otherwise unaffected mothers of three affected girls. Sweating was studied in these lesions because we were struck by the clinical overlap between IP and anhidrotic ectodermal dysplasia (AED) and because the lesions resembled those of hypomelanosis of Ito (HI), which are anhidrotic. Sweating was stimulated locally by iontophoresis of pilocarpine and stained with ferric chloride and tannic acid. Sweating was absent in these lesions. Biopsies showed absent sweat glands and follicles but no abnormal pigmentary incontinence. These are not the changes of post-inflammatory scarring and they differ in distribution, degree and depth from the early inflammatory lesions of IP. It is concluded that maldevelopment of hair follicles and sweat glands is a feature of IP which should be considered as another X-linked anhidrotic ectodermal dysplasia. This view is supported by the recent genetic localization of both conditions to the juxta centromeric region of the X chromosome.

Dominant Disorders with Multiple Organ Involvement

Diagnosis of the preceding disorders may be difficult because of their wide range of clinical expression. The genetic patterns of incontinentia pigmenti, incontinentia pigmenti achromians, and focal dermal hypoplasia are still unclear, and literature regarding this subject may be confusing. Therefore, it is necessary to observe strict clinical criteria for diagnosis of these syndromes, and genetic counseling of affected individuals and families should be undertaken with care.

(6) Incontinentia pigmenti achromians (hypomelanosis of Ito)

Journal Article (6) Incontinentia pigmenti achromians (hypomelanosis of Ito) Get access S.S. Bleehen, Drs, S.S. Bleehen, Drs Children's Hospital, Sheffield Search for other works by this author on: Oxford Academic Google Scholar S.B. Bittiner, S.B. Bittiner Children's Hospital, Sheffield Search for other works by this author on: Oxford Academic Google Scholar B.L. Priestley B.L. Priestley Children's Hospital, Sheffield Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 115, Issue s30, 1 July 1986, Pages 48–49, https://doi.org/10.1111/j.1365-2133.1986.tb07701.x Published: 01 July 1986

Ito's hypomelanosis (incontinentia pigmenti achromians): A review of four cases

In 1952 Ito described the occurrence of a bilateral systematized depigmented nevus in a 22-year-old Japanese woman. He used the term incontinentia pigmenti achromians. The condition has been described under various designations, such as for instance Ito's hypomelanosis. Till now 71 patients with this syndrome are described. We will report 4 cases, 2 boys and 2 girls, 2 Caucasian, 1 Indonesian and 1 Caribean child. The cutaneous signs in these 4 patients fit in with the syndrome of Ito's hypomelanosis. Of these 4 children 3 are mentally retarded, 2 have epilepsy. Congenital malformations are seen in 3 children. Electronmicroscopy of skin biopsies of the hypomelanotic nevus and of the normal skin were performed. In the biopsy of the normal skin of one patient interruption of the basement membrane is seen. Anomalies of the central nervous system as seen in our patients occur in about 40% of the cases. Abnormalities of skin derivatives next to other ectodermal anomalies are described. Affection of other germ layers also occur to a varying degree. In our 4 patients some of these abnormalities exist also. These 4 cases are presented to underline the fact that this syndrome seems not to be as extremely rare as is proposed.

The Genodermatoses and Their Significance in Pediatric Dermatology

This article presents a detailed discussion of six genetic disorders with major cutaneous manifestations that might commonly be seen by the dermatologist or pediatrician. These include neurofibromatosis, tuberous sclerosis, xeroderma pigmentosum, incontinentia pigmenti, incontinentia pigmenti achromians, and Down's syndrome. The appearance of each disease at birth is described, and all manifestations of each entity are discussed in detail. Disorders with different inheritance patterns were chosen so that important genetic principles could be elucidated. The article concludes with a general discussion of genetic counseling, which draws upon the six genetic diseases for specific examples of important concepts.

Hypomelanosis of Ito

We report the clinical and neuroradiologic findings and the association of a chromosome abnormality, t(2,8), with a case of hypomelanosis of Ito (incontinentia pigmenti achromians). Chromosome anomalies have not been previously recognized in this genetically determined, neurocutaneous disorder.

Hypomelanosis of Itō associated with benign tumors and chromosomal abnormalities: A neurocutaneous syndrome

A 14-year-old Japanese boy with hypomelanosis of Ito (HI) who has been followed up from the neonatal period is described. In addition to neurocutaneous symptoms consisting of intractable epilepsy, severe mental retardation, sensory neuropathy and cutaneous hypopigmentation, the following abnormalities were detected; a ventricular septal defect, a mature cystic teratoma in the posterior mediastinum, a diploic epidermoid cyst of the parietal bone and chromosomal abnormalities, i.e. mos, 45, XY, t(14q 21q)/46, XY, t(14q 21q)+mar. This disorder showed not only multisystem involvement but also tumor formation, which had not been reported previously. Because of this, it is better to use the term "Ito syndrome" instead of "HI" or "incontinentia pigmenti achromians (IPA)," which emphasize only the cutaneous symptoms.

Congenital cranio-facial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report

The authors describe a child who presented multiple congenital malformations affecting the cranio-facial region and the extremities associated with a rare skin lesion (incontinentia pigmenti achromians).

Incontinentia Pigmenti Achromians (Ito)

Three children had incontinentia pigmenti achromians (IPA). A study of these cases, together with a review of 70 previously documented cases, suggests that this dermatosis is closely related to systematized depigmented nevus and should be categorized as one of the congenital neurocutaneous diseases. There is also a relationship between IPA and incontinentia pigmenti.