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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The pigmentary anomalies are pleomorphic, and the chromosomal anomalies involved autosomes and sex chromosomes. Arch Dermatol ; In the second case of Hodgson et al.

Acta Paediatr Scand ; Clinical Synopsis Toggle Dropdown. Dev Med Child Neurol ; Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito incontinentia pigmenti achromians. Clinico-neuropathological study of incontinentia pigmenti achromians: Epidermal mosaicism and Blaschko’s lines.

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

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

They stated that nondermal involvement may help identify these individuals. Expert curators review the literature and organize it to facilitate your work.

Skeletal defects include short stature, facial and limb asymmetry, tooth abnormalities, pectus carinatum or excavatumscoliosis, and finger anomalies.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Seizures should be treated with anticonvulsivants. Hippmelanosis suggested that the gene in this case is an autosomal dominant lethal gene located at 9qqter.


Happle reviewed the evidence that hypomelanosis of Ito is not an entity but merely a symptom of many different states of mosaicism, and specifically hhipomelanosis that the ‘sporadic type of incontinentia pigmenti’ or so-called IP1 is hypomelanosis of Ito. His initial basic laboratory work-up revealed mild anemia, with normal random blood glucose hiopmelanosis, urea and electrolytes, bone profile and liver function tests.

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.

Cystic renal changes have been described in rare cases. The hipojelanosis 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.

Clinico-neuropathological study of incontinentia pigmenti achromians — an autopsy case.

Histopathologically, there is a decreased number and size of melanosomes in the basal layer hipomelanisis the epidermis [ 5 — 7 ,14]. A single case of nevus depigmentosus systematicus bilaterlis. In cultures of normal cells, only occasional tetraploid cells were found. Our patient had a complex constellation of skin, systemic and neurologic features, including mosaic hypopigmentation along the lines of Blaschko [ 38 ] facial dysmorphism, joint hypermobility, skeletal dysplasia including short stature, dental abnormalities, and congenital hip abnormalityhypotonia, seizures and mild mental retardation-all consistent with the diagnosis of hypomelanosis of Ito or pigmentary mosaicism of the Ito type [ 3 — 5 ].


His skin, general examination, and neurologic findings were unchanged.

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

Electrocardiogram ECG showed sinus rhythm and wide P wave while echocardiogram Echo revealed tricuspid regurgitation with pulmonary pressure of 22 mm Hg with good function.

Clinico-pathological study on hypomelanosis of Ito. Can J Neurol Sci ; Neurophysiology dysfunction in hypomelanosis of Ito: Autism and hypomelanosis of Ito in twins. Support Center Support Center. Studies on melanin XI. Hypomelanosis of Ito–a nonspecific marker of somatic mosaicism: In conclusion, yipomelanosis the range of genetic, clinical, and neuroradiological features, it seems that HI is not an isolated entity but a clinical syndrome encompassing multiple cutaneous and CNS disorders as demonstrated by our patient.

Furthermore, the abnormal cell line was confined to the hypopigmented epidermis, and the normal epidermis contained only normal cells.