Hypomelanosis of Ito, also called incontinentia pigmenti achromians, is a rare birth . Although hypomelanosis of Ito syndrome is most commonly a de novo. Hypomelanosis of Ito (IH) or incontinentia pigmenti achromians (Mendelian Inheritance in .. Pascual-Castroviejo I, López-Rodriguez L, de la Cruz Medina M. La hipomelanosis de ito, es un síndrome neurocutáneo con un grado de despigmentación dérmica variable y alteraciones del neurodesarrollo.
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Abnormal head MRI in a neurologically normal boy with hypomelanosis of Ito. Abdominal ultrasound revealed normal findings. Cannizzaro and Hecht suggested that the IP gene is most likely in subband Xp Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti.
Support Center Support Center. October 9; 8 Hypomelanosis of Ito IH or incontinentia pigmenti achromians Mendelian Inheritance in Man, MIM is a rare neurocutaneous syndrome, first described by Ito in as a purely cutaneous disease with skin hypopigmentation [ 12 ].
Autosomal dominant inheritance was demonstrable in some. This involvement may be widespread if caused by an event in the early period, whereas late onset mosaicism may involve smaller hipomelanosus [ 30 ].
In both, a de novo X-autosome translocation involved Xp TEXT A number sign is used with this entry because of convincing evidence that hypomelanosis of Ito does not represent a distinct entity but is rather a symptom of many different states of mosaicism Donnai et al. His school performance was poor. British Hipomelanoss of Dermatology ; These were non- inflammatory with no history of previous trauma and no family history of vitilligo.
Current theory suggests that hypomelanosis of Ito is a nonspecific manifestation of chromosomal mosaicism; however, chromosomal alteration have not been demonstrated hlpomelanosis every case of HI [ 51213 ].
The variety of clinical findings in hypomelanosis of Ito, the sporadic character, hipomelaanosis the karyotype analysis that hipomelwnosis a variety of chromosomal rearrangements, lead to the belief that this disorder is not a distinct entity but is rather a skin-related symptom of many different genetic disorders associated with disturbed expression or function of pigmentary genes [ 25 — 27 ]. He had normal hair with whorl-like hypopigmented triangular area 10 x 18 cm in diameter, non- blanchable seen on the back extending from midline to lumbar region resembling Blaschko lines Figure 1 hipomelanois another similar one, but with small size, seen at the right shoulder.
Nevous depigmentosus is a congenital, nonprogressive disorder characterized by hypopigmented spots on the skin [ 21 ]. They found in the literature at least 36 similar examples of the association between pigmentary anomalies and chromosomal mosaicism, as well as 5 examples of associated chimerism.
Understanding the patterns and mechanisms. A study of 76 infantile cases.
Although some features are similar to those of classic incontinentia pigmentithe differences are sufficient to establish it as a separate disorder. Clinical Syndrome or Just Phenotype?
Areas of abnormal skin pigmentation were first noted when he was six months old. Translocation X;9 p11;q34 in a girl with incontinentia pigmenti IP: Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito incontinentia pigmenti achromians.
hipomelanosis de Ito – English Translation – Word Magic Spanish-English Dictionary
Management and treatment Treatment of the cutaneous lesions is not required. The cutaneous lesions are usually evident during dw [ 22 ]. They stated that nondermal involvement may help identify these individuals.
Alopecia, weather diffuse or localized, variation in hair color and texture as well as facial hypertrichosis have also been reported [ 14 ].
Cannizzaro and Hecht observed a female with typical IP who displayed an X;10 ve with breakpoints in Xp Cranial imaging studies were normal initially, but a follow-up studies approximately 6 years later, showed changes within the globus pallidi and the cerebellar follia, best seen on both T2-weighted and diffusion-weighted images Figure 3 Such findings were commonly reported in association with iron deposition in basal gangalia either secondary to acquired causes such as post repeated blood transfusion as in thalassemia, sickle cell disease and G6PD deficiency, or genetically determined as in gipomelanosis disorders neurodegeneration with brain iron accumulation – NBIA such as juvenile onset Hallervorden-Spatz disease, and in association with PLA2G6 or PANK2 gene mutation [ 39 hipomelanosos 43 ].
Since the ring was very small, the finding suggests that the IP locus is juxtacentromeric, e. The hypopigmented areas of skin of our patient correspond to the Blaschko lines that was first described in by the German dermatologist.
Hypomelanosis of Ito incontinentia pigmenti achromians and mosaicism for a microdeletion of 15q1. hipomelanosls
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature
Cytogenetic analysis performed in one of the daughters in showed no visible abnormality, but translocation of a small segment might have gone unnoticed. It is associated with decreased melanosome synthesis and the transfer of melanosome to neighboring keratinocytes. The latter manifested as hypotonia, generalized seizures, and mild mental retardation.
Single maxillary central incisor and coloboma in hypomelanosis of Ito. His recent MRI evaluation revealed bilateral low signal intensity within the basal ganglia particularly golbus pallidi as well as in the cerebellar folia on both T2 Weighted images and diffusion weighted images consistent with iron deposition as seen in neurodegenerative disorders with brain iron accumulation Figure 3. The incidence and prevalence of HI was estimated to be between 1 in births and 1 in 82, in different studies [ 5 ].
In 7 patients, abnormal, dark pigmentation followed Blaschko lines. Clinico-neuropathological study of incontinentia pigmenti achromians — an autopsy case. In commenting on the paper by Thomas et al. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Biopsy was refused in the case of the daughter. Tendon reflexes, muscular strength and tone were normal.
Eur J Dermatol ; His thyroid function test revealed normal free T4 American Journal of Medical Genetics ; Am J Med Genet ; Hamartomatous dental cusps in hypomelanosis of Ito.
Journal of Medical Genetics ; In the 2 published cases discussed by Happlethe mosaicism was functional rather than hioomelanosis and the consequence of the inactivation of the portion of chromosome 9 that was translocated to one X chromosome. Hypomelanosis of Ito–report of four cases and survey of the literature. Of mice, persons, and pigment. Pediatric Dermatology ; 7: