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Quantification of Hypopigmentation Activity In Vitro
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A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement
Piero Pavone1,2, Xena Giada Pappalardo2,3, Francesca Scrofani3
1Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University Hospital "Policlinico G. Rodolico", 95100 Catania, Italy.
Children (Basel, Switzerland)
|December 30, 2025
Summary
Congenital cutaneous hypopigmentation, presenting as localized or diffuse skin color loss, often indicates underlying neurological disorders. Early diagnosis through clinical evaluation is crucial for improving outcomes in affected children.
Area of Science:
- Dermatology
- Genetics
- Neurology
Background:
- Cutaneous hypopigmentation is a frequent clinical sign associated with diverse congenital and acquired disorders.
- These conditions can be localized or diffuse, ranging from benign to indicative of serious systemic and central nervous system involvement.
- Accurate diagnosis hinges on recognizing key clinical features to differentiate between various hypopigmentation disorders.
Purpose of the Study:
- To systematically review congenital cutaneous hypopigmentation disorders with a focus on neurological involvement.
- To differentiate between localized and diffuse presentations of hypopigmentation and their associated neurological signs.
- To provide a diagnostic aid for distinguishing between diffuse and localized forms with neurological implications.
Main Methods:
- A systematic review of PubMed, Embase, and Scopus databases was conducted.
- Search terms focused on congenital, cutaneous, localized, diffuse hypopigmentation, and neurological disorders/signs.
- Reviewed peer-reviewed articles, case series, and studies detailing neurological manifestations of hypopigmentation disorders.
Main Results:
- Congenital hypopigmentation disorders with diffuse cerebral involvement include Chediak-Higashi, Griscelli, and Prader-Willi syndromes, among others.
- Localized hypopigmentation disorders with neurological signs encompass Waardenburg syndrome, Incontinentia pigmenti, and phacomatoses like hypomelanosis of Ito.
- Diagnostic challenges arise from overlapping phenotypes and genetic heterogeneity, necessitating expert consultation.
Conclusions:
- Early identification of cutaneous hypopigmentation features is vital for timely diagnosis.
- A comprehensive clinical and instrumental evaluation aids in accurate diagnosis of associated neurological conditions.
- Improved diagnostic accuracy leads to better clinical outcomes for children with these disorders.
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