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 neuropathology findings recorded in hypomelanosis of Ito are limited, and have usually consisted of abnormal cortical morphogenesis with disarray of cortical lamination, heterotopic areas, laminar or band heteropia, pachygyria, cerebral or cerebellar micropolgyria, focal or generalized brain atrophy, brainstem and cerebellum hypoplasia with dysmyelination of the corticospinal tracts, existence of abnormal neurons in the white matter and periventricular areas, and notable astrocytes reaction, resulting from the coexistence of neural cells undergoing a normal migration and cells exhibiting migration arrest or even complete absence of migration [ 3 — 5171831 ].
Nevous depigmentosus is a congenital, nonprogressive disorder characterized by hypopigmented spots on the skin [ 21 ]. The borders between dark and light skin were sharper than usually seen in the postinflammatory hyperpigmentation of incontinentia pigmenti. The hypopigmented areas of skin of our patient correspond to the Blaschko lines that was first described in by the German dermatologist Alfred Blaschko [ 2829 ].
Skeletal defects include short stature, facial and limb asymmetry, tooth abnormalities, pectus carinatum or excavatumscoliosis, and finger anomalies. Seizures should be treated with anticonvulsivants. Hypomelanosis of Ito and precocious puberty. Hypomelanosis of Ito and hemimegalencephaly.
Involvement of the white matter in hypomelanosis of Ito incontinentia pigmenti achromiens. Parent-child affection was reported by Grosshans et al. Pigmentary abnormalities and mosaicism for chromosomal aberration: In hypomelanosis of Ito, the brain magnetic resonance commonly revealed findings such as: The prognosis is determined by the associated abnormalities.
Tendon reflexes, hhipomelanosis strength and tone were normal. The commonest of these were developmental delay, mental retardation of various degrees ranging between mild to severe, poor school performance and autistic- like behavior especially in those who suffered from either infantile spasm or drug resistant seizures.
They expressed the view that lesions of this type occur only in the ‘classical’ type II, or familial form of IP, which maps to Xq The variety of clinical findings in hypomelanosis of Igo, the sporadic hipomelanosi, and the karyotype analysis that reveals 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 nipomelanosis 27 ].
Pascual-Castroviejo I, Ruggieri M. 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. They noted that there was no history of bullous lesions in these cases. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. A cytogenetic study CTG banding from the areas with pigmentary changes in our patient revealed a normal 46,XY karyotype.
Orphanet: Hipomelanosis de Ito
Mosaicism in human skin. They concluded that the breakpoints in 3 of the 5 patients whom they studied was separated by a distance of at least 1, kb.
Gene for incontinentia pigmenti maps to band Xp11 with an X;10 p11;q22 translocation. Furthermore, the patient suffered from severe mental retardation and seizures, and the teeth, more often affected in IP, were normal. Check this box if you wish to receive a copy of your message.
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature
Annals of Neurology ; In conclusion, given 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. Dev Med Child Neurol ; Epidermal mosaicism and Blaschko’s lines. Neurological complications in 34 cases. Oxford University Press Cutaneous hipomflanosis have a good prognosis.
Histopathologically, there is a decreased number and size of melanosomes in the basal layer of the epidermis [ 5 — 7 ,14]. EEG and evoked potential studies.
Furthermore, the abnormal cell line was confined to the hypopigmented epidermis, and the normal epidermis contained only normal cells. His plantar responses were downgoing bilaterally. 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.
Cranial magnetic resonance imaging revealed normal finding initially, however; follow-up diffusion weighted images were suggestive of a possible iron accumulation.
Journal of the American Academy of Dermatology ; They mentioned another hiomelanosis, i. The computed tomographic CT scan of the brain, with and without contrast, ce normal.