Neurocutaneous Disorders: Tuberous Sclerosis, Incontinentia Pigmenti, and Hypomelanosis of Ito

Wiss, K

doi:10.1055/s-2008-1041193

Cited by 6 publications

(2 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These include hypomelanosis of Ito, linear and whorled nevoid hypermelanosis, nevus depigmentosus, and cutis tricolor. Reports of extracutaneous defects (e.g., neurologic, ophthalmologic, musculoskeletal) vary from 16% to 100% . In our experience, extracutaneous anomalies, particularly serious neurologic and neurodevelopmental defects, are rare in children with this pattern of dyspigmentation, and we suspect that previous series have had a major referral bias.…”

mentioning

confidence: 61%

See 1 more Smart Citation

Analysis of 36 Cases of Blaschkoid Dyspigmentation: Reading Between the Lines of Blaschko

Cohen

Shahrokh

Cohen

2014

Pediatric Dermatology

View full text Add to dashboard Cite

Genetic mosaicism indicated by lines of Blaschko pigmentary changes has been described under a number of different and confusing terms, including hypomelanosis of Ito, linear and whorled nevoid hypermelanosis, nevus depigmentosus, and cutis tricolor. Moreover, extracutaneous findings, particularly serious neurologic defects, have been reported in a large number of these cases. We reviewed the cutaneous and extracutaneous findings in 36 patients referred to the Harriet Lane Pediatric Dermatology Clinic, Johns Hopkins University, from June 12, 2008, to May 24, 2009, for evaluation of macular lesions along the lines of Blaschko. Patients with dyspigmentation along the lines of Blaschko and no history of preceding inflammatory skin lesions were identified for inclusion in a database at their initial visit. Information on age at presentation; sex; age when first diagnosed; type, pattern, and location of the pigmentary anomaly; and extracutaneous abnormalities noted on a review-of-systems questionnaire and physical examination was recorded for each child. Patients were asked to follow up within 6 to 12 months of the initial visit. Patients included 13 boys and 23 girls ages 3 months to 15 years with lesions noted from birth to 12 years. Lesions were hypopigmented in 21 patients and hyperpigmented in 15. No patients presented with hypopigmented and hyperpigmented lesions. Extracutaneous findings were noted in five children (13.9%). Historically, cases of Blaschkoid hypopigmentation and hyperpigmentation have been associated with a high percentage of extracutaneous manifestations, particularly neurologic and neurodevelopmental defects. In our study, only five patients (13.9%) were noted to have extracutaneous abnormalities, and these findings may have been coincidental. We propose the term 'Blaschkoid dyspigmentation' to describe the cutaneous findings. Although serious extracutaneous findings may occur in children with Blaschkoid dyspigmentation and results of careful physical examination and review of systems should direct an evaluation, serious extracutaneous findings occur in a minority of patients.

show abstract

mentioning

confidence: 61%

“…Rudolf Happle was the first to propose that pigmentary anomalies along the lines of Blaschko were a result of genetic mosaicism . It is now well accepted that genetic mosaicism resulting in Blaschko's lines can arise from a multitude of genetic defects, including chromosomal nondisjunction, lyonization, and chimerism .…”

mentioning

confidence: 99%