Cutis Marmorata Telangiectatica Congenita: Case Series and Literature Review

<b>Background:</b> Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly characterized by a persistent, violaceous, reticulated skin pattern. It may present as a benign isolated lesion or as part of a broader syndrome with systemic anomalies such as limb asymmetry, glaucoma, or neurological impairment. <b>Methods:</b> We report a case series of three neonates with CMTC, each representing a distinct clinical pattern: localized, segmental, and generalized. All patients underwent comprehensive clinical assessment, including dermatologic, neurologic, and ophthalmologic evaluations. Additionally, a systematic literature review was conducted using PubMed, Scopus, and Web of Science databases, covering publications from 2012 to 2025. <b>Results:</b> Case 1 involved a localized lesion of the calf; Case 2 had segmental involvement of the forearm and leg; Case 3 presented with generalized CMTC covering over 85% of the body surface, accompanied by dysmorphism and bilateral persistent fetal vasculature (PFV). Literature findings highlighted significant clinical variability and a stronger association of generalized forms with systemic abnormalities. <b>Conclusions:</b> CMTC exhibits a broad clinical spectrum. While localized cases often resolve spontaneously, generalized forms may require multidisciplinary evaluation. Early recognition and systemic screening are crucial for optimal management.

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Publication Details

Journal
Diagnostics
Published
2025-08-14
DOI
https://doi.org/10.3390/diagnostics15162043
Primary Topic
Hypertrophic osteoarthropathy and related conditions
Type
article
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article

Cutis Marmorata Telangiectatica Congenita: Case Series and Literature Review

Nicoleta Lungu, Mărioara Boia, Valerica Belengeanu, Ana Maria Cristina Jura et al.
Diagnostics
Hypertrophic osteoarthropathy and related conditions
article

Cutis Marmorata Telangiectatica Congenita: Case Series and Literature Review

Nicoleta Lungu, Mărioara Boia, Valerica Belengeanu, Ana Maria Cristina Jura, Corina Pienar, Aniko Maria Manea, Florina Stoica, Eugen Radu Boia, Daniela-Eugenia Popescu
article en

Abstract

<b>Background:</b> Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly characterized by a persistent, violaceous, reticulated skin pattern. It may present as a benign isolated lesion or as part of a broader syndrome with systemic anomalies such as limb asymmetry, glaucoma, or neurological impairment. <b>Methods:</b> We report a case series of three neonates with CMTC, each representing a distinct clinical pattern: localized, segmental, and generalized. All patients underwent comprehensive clinical assessment, including dermatologic, neurologic, and ophthalmologic evaluations. Additionally, a systematic literature review was conducted using PubMed, Scopus, and Web of Science databases, covering publications from 2012 to 2025. <b>Results:</b> Case 1 involved a localized lesion of the calf; Case 2 had segmental involvement of the forearm and leg; Case 3 presented with generalized CMTC covering over 85% of the body surface, accompanied by dysmorphism and bilateral persistent fetal vasculature (PFV). Literature findings highlighted significant clinical variability and a stronger association of generalized forms with systemic abnormalities. <b>Conclusions:</b> CMTC exhibits a broad clinical spectrum. While localized cases often resolve spontaneously, generalized forms may require multidisciplinary evaluation. Early recognition and systemic screening are crucial for optimal management.

DiagnosticsVol. 15(16)
West University of Timişoara (RO), Victor Babeș University of Medicine and Pharmacy Timișoara (RO), Vasile Goldis Western University of Arad (RO)
Openalex Percentile: Top 65%
Hypertrophic osteoarthropathy and related conditions
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