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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Incontinentia pigmenti IP and r X: This leads to characterization of HI as a neurocutaneous disorder. Care should be multidisciplinary with periodic consultations with a pediatric ophthalmologist, neurologist and orthopedic specialist, depending of the associated anomalies. One patient presented with the West syndrome and had an asymmetric hypsarrhythmia.
Notably, his skin lesions did not fade with age. Hypomelanosis of Ito incontinentia pigmenti achromians: Pigmentary abnormalities and mosaicism for chromosomal aberration: Additional information Further information on this disease Classification s 5 Gene s 0 Clinical signs and symptoms Publications in PubMed Other website s 7.
Moss and Burn described a year-old man who had this disorder. The incidence was about 1 per 1, new patients consulting a pediatric neurologic service, or 1 in 8, to 10, unselected patients in a children’s hospital. Anomalies of the central nervous system may include intellectual deficit, motor retardation, seizures, microcephaly, macrocephaly and hypotonia.
Mendelian Inheritance in Man [Internet] 12th ed. The term hypomelanosis of Ito HI is applied to individuals with skin hypopigmentation along the lines of Blaschko. By fluorescence in situ hybridization, Pellegrino et al.
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature
Diagnostic methods Cutaneous ultrastructural analysis shows a decreased number of melanocytes, containing fewer melanosomes. The Pigmentary System and Its Disorders.
The lines of Blaschko: Skin biopsy from the hypopigmented macule showed evidence of reduced hipomelanosls of melanocytes count consistent with depigmented nevous or hypopigmented patches Figure 2. A single case of nevus depigmentosus systematicus bilaterlis. Autism and hypomelanosis of Ito in twins.
Dental dysplasia in incontinentia pigmenti achromians Ito: The white matter lesions of our patient presented as early as the first month of life, df not correlate in extension with the age of patients, and were static over time [ 6 ].
Cytogenetic analysis performed in one of the daughters in showed no visible abnormality, but translocation of a small segment might have gone unnoticed. Involvement of the white matter in hypomelanosis of Ito incontinentia pigmenti achromiens.
Autosomal dominant inheritance was demonstrable in some. His skin, general examination, and neurologic findings were unchanged. His MRI did not show the classic eye-of-the tiger sign, which correlates with pantothenate kinase-associated neurodegeneration PKAN [ 44 ].
Brain and Development ; British Journal of Dermatology ; They noted that there was no history of bullous lesions in these cases. They concluded that the breakpoints in 3 of the 5 patients whom hipomrlanosis studied was separated by a distance of at least 1, kb. Arch Dermatol ; Abnormal head MRI in a neurologically normal boy with hypomelanosis of Ito.
A 13 -year-old boy was evaluated in our tertiary care neurology clinic. Nevous depigmentosus is a congenital, nonprogressive disorder characterized by hypopigmented spots on the skin [ 21 ]. MRI findings and literature review. Mosaicism in human skin. However, there is a tendency to classify cases without extrademal involvement as nevus depigmentosus, and cases with extradermal anomalies as hypomelanosis of Ito [ 22 ].
Xe pointed to the report by Flannery et al.
hipomelanosis de Ito – English Translation – Word Magic Spanish-English Dictionary
Only comments written in English can be processed. Autosomal dominant inheritance has been seen in some but not all cases; hipomelajosis equal frequency among males and females [ 24 ]. 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 hipomelanozis resembling Blaschko lines Figure 1 and another similar one, but with small size, seen at the right shoulder.
This article has been cited by other articles in PMC. There are limited neuropathologic descriptions of HI in the literature [ 16 — 18 ]. They also suggested that all patients with ITO due to Xp11 mutation have functional or genetic mosaicism. Interestingly, hypomelanosis of Ito have been reported in association with certain tumors like cystic teratoma of mediastinum in association with diploic epidermoid cyst of bone, complex mature sacrocoxygeal dysembryonal tumor, choroid plexus papilloma hipokelanosis dental hamartomatous tumor, and rarely malignant tumors such as acute lymphoblastic leukemia, meduloblastoma, neuroblastoma and primary meningeal rhabdomyosarcoma.
Although some features are similar to those of classic incontinentia hipomelanozisthe differences are sufficient to establish it as a separate disorder. EEG and evoked potential studies. Cutaneous lesions have a good prognosis.
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito incontinentia pigmenti achromians. Two, with unusual abnormalities hipomelamosis their toes, had a mixture of diploid and triploid cells in cultured skin fibroblasts.
Journal of Child Neurology ; Molecular linkage study looking for mutation in PLA2G6, common gene mutation associated with iron deposition neurodegenerative disorders, revealed a negative result.
Journal of the American Academy of Dermatology ; The Lancet ; Donnai and Read emphasized the paramount importance of mosaicism either for a chromosomal abnormality or for a point mutation in this disorder. 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.