Glomerulocystic kidney disease in hypomelanosis of Ito

Vergine, Gianluca; Mencarelli, Francesca; Diomedi-Camassei, Francesca; Caridi, Gianluca; Hachem, May El; Emma, Francesco

doi:10.1007/s00467-008-0797-y

Cited by 11 publications

(2 citation statements)

References 14 publications

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“…28 Glomerulocystic kidney disease has been reported. 29 Other anomalies include cleft palate, hemi hypertrophy of limbs, hand and/or foot abnormalities, nail abnormalities, hypotonia, teeth abnormalities, hair anomalies, face and/or skull anomalies. The associated anomaly rate is approximately 30%.…”

Section: Discussionmentioning

confidence: 99%

Clinico-pathological correlation of linear dermatoses along the lines of Blaschko: An observational study

Pise¹,

Dastikop

Manjunath³

et al. 2021

IJCED

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Several epidemiological studies have described linear dermatoses; however, only few studies have correlated linear dermatoses along Blaschko’s lines with the histopathological findings. The aims of this study were to investigate the clinical patterns of various linear dermatological lesions along Blaschko’s lines and investigate the correlations between these dermatological lesions and their histopathological features. Patients who attended our dermatology out-patient department with linear dermatoses along the Blaschko’s lines were included in the study. Detailed history was obtained, clinical examination was performed, and a final provisional clinical diagnosis was noted. Subsequently, biopsy of the lesions was performed for histopathological examination. Of 62 patients who presented with linear lesions along the Blaschko’s lines, 45 patients underwent biopsy and histopathological examination. Of 45 patients who underwent biopsy, clinico-pathological correlation was observed in 100% of those diagnosed with lichen striatus and linear morphea, 89% of those diagnosed with hypomelanosis of Ito, 80% of those diagnosed with linear epidermal nevus, 75% of those diagnosed with lichen planus, and 67% of those diagnosed with nevus depigmentosus. The importance of correlation of linear lesions with their histopathological features in dermatology cannot be over emphasized. However, 100% correlation may be wishful thinking, and a correlation can help choose the appropriate line of management. Our results highlight this discrepancy and add to the knowledge on linear dermatosis.

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Section: Discussionmentioning

confidence: 99%

Clinico-pathological correlation of linear dermatoses along the lines of Blaschko: An observational study

Pise¹,

Dastikop

Manjunath³

et al. 2021

IJCED

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“…These can include congenital heart defects, such as Fallot's tetralogy, atrial or ventricular septal defects, and kidney anomalies including single kidney or ureteral duplication, focal segmental glomerulosclerosis with end-stage renal disease, ureteral and renal agenesis, horseshoe kidneys, bilateral urethras duplication, renal tubular acidosis, and glomerulocystic kidney disease. 149,150 Cryptorchidism, micropenis or macrogenitosomia, hypospadias, and vaginal skin tags have been also reported. [151][152][153] Asymmetric breast development, gynecomastia in either boys or prepubertal girls, and precocious puberty have all been reported.…”

Section: Other Systemic Abnormalitiesmentioning

confidence: 99%

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/Pigmentary Mosaicism

Taibjee

Moss

2011

Harper's Textbook of Pediatric Dermatology

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Glomerulocystic kidney disease in hypomelanosis of Ito

Cited by 11 publications

References 14 publications

Clinico-pathological correlation of linear dermatoses along the lines of Blaschko: An observational study

Clinico-pathological correlation of linear dermatoses along the lines of Blaschko: An observational study

Hypomelanosis of Ito

Hypomelanosis of Ito/Pigmentary Mosaicism

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