Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant

Bhat, Ramesh Y; Patra, Saikat; Varma, P. V. Chaitanya; Prakashini, K

doi:10.4103/2229-5178.131109

Cited by 5 publications

(4 citation statements)

References 4 publications

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“…A uncommon neurocutaneous condition called hypomelanosis of Ito is characterised by hypopigmented skin lesions that have an odd pattern of streaks, whorls, swirls, and patches. The neurological and musculoskeletal systems are the most usually affected by the related systemic disorders, whereas the gastrointestinal, renal, and cardiac systems are less frequently affected [109] .…”

Section: Differential Diagnosis Of Segmental Vitiligo (Sv)mentioning

confidence: 99%

Vitiligo updates: Pathophysiology, diagnosis and stability evaluation

Ramadan¹,

Hewedy²,

Sallam³

et al. 2023

Int. J. Dermatol. Venereology Leprosy Sci.

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Skin patches with reduced pigmentation are the hallmark of the acquired idiopathic illness vitiligo. Vitiligo was present in 0.5% to 2% of the world's population, with an increase reaching 1.22% in Egypt. The loss of melanocytes, which produce the melanin pigment in the skin, hair, mucous membranes, and retina, leads to skin depigmentation in this illness. Numerous hypotheses contend that genetics, environmental factors, and autoimmune play a part in the development of vitiligo. Other autoimmune diseases including thyroiditis, rheumatoid arthritis (RA), and diabetes mellitus are also linked to vitiligo. Vitiligo's aetiology may be influenced by the imbalance of the innate and adaptive immune systems.

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Section: Differential Diagnosis Of Segmental Vitiligo (Sv)mentioning

confidence: 99%

Vitiligo updates: Pathophysiology, diagnosis and stability evaluation

Ramadan¹,

Hewedy²,

Sallam³

et al. 2023

Int. J. Dermatol. Venereology Leprosy Sci.

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“…En el año 2014 Bhat reportó un caso de hipoplasia pulmonar. (1,2,5) Dada la frecuencia de las manifestaciones neuromusculares en la HI, ésta constituye un síndrome neurocutáneo. Dentro de este grupo de entidades nosológicas, la HI es considerada el tercer síndrome en frecuencia, después de la neurofibromatosis de tipo I y la esclerosis tuberosa.…”

Section: Introduccionunclassified

“…Ambos autores hallaron en la tomografía axial computada de tórax, hipoplasia del segmento inferior y posterior del lóbulo superior del pulmón izquierdo. (2,4) Existen reportes de hallazgos tomográficos de cráneo, tales como prominencia de la cisterna magna y dilatación de los ventrículos laterales y asimetría cerebral en los cortes supraventriculares, como también leve hipodensidad témporoparietal bilateral. ( 4,7 ) En la resonancia magnética se reportó hemimegalencefalia, meduloblastoma, malformaciones corticales, ductos de Virchow-Robin dilatados, atrofia cerebral y cerebelar, quistes periventriculares bilaterales discretos, anormalidades en la sustancia blanca, heterotipias en la sustancia gris u otras anormalidades en la migración neuronal.…”

Section: Introduccionunclassified

“…(8) El diagnóstico de la hipomelanosis de Ito se basa en criterios propuestos por Ruiz-Maldonado et al, siendo que la combinación del criterio fundamental más uno o más criterios mayores, o el criterio fundamental más dos o más criterios menores son determinantes de un diagnóstico definitivo de la enfermedad, mientras que el criterio fundamental más un criterio menor, es indicativo de diagnóstico presuntivo. (2) (tabla 1). El pronóstico es impredecible y depende del tipo y severidad de los síntomas que se desarrollen; durante su evolución puede permanecer estable, progresar indefinidamente o en casos más raros repigmentar en forma espontánea.…”

Section: Introduccionunclassified

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Enfermedades raras: hipomelanosis de Ito

Servin

Avalos

Scappini

et al. 2015

Rev. Fac. Med. Univ. Nac. Nordeste

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Hypomelanosis of Ito

et al. 2018

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Hypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

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Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant

Cited by 5 publications

References 4 publications

Vitiligo updates: Pathophysiology, diagnosis and stability evaluation

Vitiligo updates: Pathophysiology, diagnosis and stability evaluation

Enfermedades raras: hipomelanosis de Ito

Hypomelanosis of Ito

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