Cutis marmorata telangiectatica congenita with isolated lower limb defect and angiokeratoma

Baisya, Subhasmita; Mallick, Subhadeep; Banerjee, S.; Rudra, Olympia

doi:10.1002/bdr2.1985

Cited by 2 publications

(1 citation statement)

References 4 publications

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“…Of 51 patients originally classified as CMTC in our patient databases, 31 met our clinical definition and were thus also included (Figure 1). 16–57 …”

Section: Resultsmentioning

confidence: 99%

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

Downey

Metry

Garzon

et al. 2023

Pediatric Dermatology

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Background/ObjectivesCutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well‐demarcated dark blue, red‐purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams‐Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low.MethodsWe performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies.ResultsWe included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time.ConclusionOur study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC.

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“…Of 51 patients originally classified as CMTC in our patient databases, 31 met our clinical definition and were thus also included (Figure 1). 16–57 …”

Section: Resultsmentioning

confidence: 99%

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

Downey

Metry

Garzon

et al. 2023

Pediatric Dermatology

View full text Add to dashboard Cite

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A Rare Case of Vascular Malformation in India: Cutis Marmorata Telangiectatica Congenita

Manna

2024

Cureus

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The current case report presents a male baby, second born to nonconsanguineous parents at 38 weeks of gestation by lower segment cesarean section, with engorged blood vessels and distinctive patterns of discoloration and dilation of blood vessels on the left leg. A Doppler of the femoral artery and vein showed normal triphasic flow and waveforms without any evidence of significant luminal stenosis. There was also a lower limb length discrepancy of 1.5 cm. Genetic testing using fluorometric enzyme immunoassay screening revealed a negative screening report. Otologic screening using distortion product otoacoustic emissions revealed normal functioning of outer hair cells in both ears. The case was diagnosed as cutis marmorata telangiectatica congenita (CMTC), after ruling out genetic diseases. It was not associated with any other significant health problems. The diagnosis of CMTC was based on the appearance of the skin at birth, which became more noticeable shortly after two days. In this case, no specific treatment was warranted and the condition improved with time.

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Cutis marmorata telangiectatica congenita with isolated lower limb defect and angiokeratoma

Cited by 2 publications

References 4 publications

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

A Rare Case of Vascular Malformation in India: Cutis Marmorata Telangiectatica Congenita

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