HIPOMELANOSIS DE ITO PDF

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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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Hypomelanosis of Ito HI is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.

HI is causally heterogeneous and, with the exception of the pigmentary skin anomalies that are by definition mandatory for recognition of the condition, the phenotypic hipimelanosis is very variable.

Orphanet: Hipomelanosis de Ito

The skin phenotype is characterized by unusual unilateral or bilateral cutaneous macular hypopigmented whorls, streaks and patches, corresponding to the lines of Blaschko, that usually develop within the first two years of life.

Neurological, skeletal and ocular symptoms have also been reported. Anomalies of the central nervous system may include intellectual deficit, motor retardation, seizures, microcephaly, macrocephaly and hypotonia. Ophthalmological abnormalities consist of strabismus, cataracts, nystagmus and retinal degeneration.

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

Skeletal defects include short stature, facial and limb asymmetry, tooth abnormalities, pectus carinatum or excavatumscoliosis, and finger anomalies. Cystic renal changes have been described in rare cases. Various chromosomal anomalies have been identified in some patients and several authors have suggested that the phenotype recognized as HI is the result of cutaneous mosaicism, either for a monogenic or a chromosomal disorder, rather than being a distinct disease.

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In a minority of cases, the mosaicism can be detected in cultured fibroblasts, which show cells with different karyotypes; the repartition of cell lines correlates to some extent with the hypopigmented patches, but usually both cell lines are found in normal and in hypopigmented skin. Cutaneous ultrastructural analysis shows a decreased number of melanocytes, containing fewer melanosomes.

When associated with hyperpigmented macules, neurofibromatosis types 1 or 2 see these termsand a homozygous state for mismatch repair genes should also be considered in the hipome,anosis diagnosis.

HI is generally sporadic, but autosomal dominant, recessive and X-linked modes of inheritance have occasionally been reported. Treatment of the cutaneous lesions is not required.

Care should be multidisciplinary with periodic consultations with a pediatric ophthalmologist, neurologist and orthopedic specialist, depending of the associated anomalies. Seizures should be treated with anticonvulsivants. The prognosis is determined by the associated abnormalities. Cutaneous lesions have a good hipomelahosis.

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Check this box if you wish to receive a copy of your message. Disease definition Hypomelanosis of Ito HI is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. Clinical description HI is causally heterogeneous and, with the exception of the pigmentary skin anomalies that are by definition mandatory for recognition of the condition, hipomelanosia phenotypic presentation is very variable.

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Etiology Various chromosomal anomalies have been identified in some patients and several authors have suggested that the phenotype recognized as HI is the result of cutaneous mosaicism, either for a monogenic or a chromosomal disorder, rather than being a distinct disease.

Diagnostic methods Cutaneous ultrastructural analysis shows a decreased number of melanocytes, containing fewer melanosomes.

Genetic counseling HI is generally sporadic, but autosomal dominant, recessive and X-linked modes of inheritance have occasionally been reported. Management and treatment Treatment of the cutaneous lesions is not required.

Prognosis The prognosis is determined by the associated abnormalities. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 5 Gene s dw Clinical signs and symptoms Publications in PubMed Other website s 7.

hipomelanosi Health care resources for this disease Expert centres Diagnostic tests 2 Patient organisations 63 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.