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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Two, with unusual abnormalities of their toes, had a mixture of diploid and triploid cells in cultured skin fibroblasts.

Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito incontinentia pigmenti achromians. Pediatric Neurology ; Furthermore, the hipomeelanosis cell line was confined to the hypopigmented epidermis, and the normal epidermis contained only normal cells. Hypomelanosis of Ito incontinentia pigmenti achromians: Please review our privacy policy.

Additional information Further information on this disease Classification s 5 Gene s 0 Clinical signs and symptoms Publications in PubMed Other website s 7. Although his gross and fine motor milestones were achieved within the normal range, his cognitive and language development were noted to be slower compared with his siblings.

Incontinentia pigmenti versus ds of Ito: The characteristic skin manifestation of HI are pigmentary patterns with irregular borders, streaks, whorls, and patches. Neurological complications in 34 cases. 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 and another similar one, but with small size, seen at the right shoulder.

His thyroid function test revealed normal free T4 The commonest of these were developmental delay, mental retardation of various degrees ranging between mild to severe, igo school performance and hipomeelanosis like behavior especially in those who suffered from either infantile spasm or drug resistant seizures.


Thus, our patient represents a possible novel example of HI.

The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature

HI is causally heterogeneous and, with the hipomelanlsis of the pigmentary skin anomalies that are by definition mandatory for recognition of the condition, the phenotypic presentation is very variable. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. October 9; 8 Expert curators review the literature and organize it to facilitate your work. The clinical presentation in all 5 patients was the same.

They concluded that the breakpoints in 3 of the 5 patients whom they studied was separated by a distance of at least 1, kb. Hypomelanosis of Ito ‘incontinentia pigmenti achromians’: In the second case of Hodgson et al.

Pascual-Castroviejo I, Ruggieri M. The cutaneous lesions are usually evident during infancy [ 22 ]. 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 hjpomelanosis states of mosaicism Donnai et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: A non-progressive speech delay have been reported occasionally, mainly in the form of delay in the production of speech sounds, in communication milestones and specific expressive language disabilities according to the diagnostic and Statistical Manual of Mental Disorders-IV [ 37 ].

Autism and hypomelanosis of Ito in twins. Mendelian Inheritance in Man [Internet] 12th ed.

The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature

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 re in neurodegenerative disorders neurodegeneration with brain iron accumulation – NBIA such as juvenile onset Hallervorden-Spatz disease, and in association with PLA2G6 or PANK2 gene mutation [ 39 — 43 ].


In hypomelanosis of Ito, the brain magnetic resonance commonly revealed findings such as: Mosaicism in human skin.

Ophthalmological evaluation as well as full chromosomal analysis revealed normal results. Pigmentary abnormalities and mosaicism for chromosomal aberration: In hypomelanosis of Ito, the brain magnetic resonance commonly revealed findings such as:.

Nevous depigmentosus is a congenital, nonprogressive disorder characterized by hypopigmented spots on the skin [ 21 ]. In cultures of normal cells, only occasional tetraploid cells were found. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: Diagnostic methods Cutaneous ultrastructural analysis shows a decreased number of melanocytes, containing fewer melanosomes. 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 and dental hamartomatous tumor, and rarely malignant tumors such as acute lymphoblastic leukemia, meduloblastoma, neuroblastoma and primary meningeal rhabdomyosarcoma.

Johns Hopkins University Press;