Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of <scp>CLAPO</scp> syndrome

Downey, Camila; López‐Gutiérrez, Juan Carlos; Roé-Crespo, Esther; Puig, Luís; Baselga, Eulàlia

doi:10.1111/pde.13514

Cited by 7 publications

(3 citation statements)

References 4 publications

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“…In contrast to the first description of CLAPO syndrome [1], a recent study found a low frequency of overgrowth in a cohort of 13 patients, suggesting that it should not be considered a major criterion of this entity [2]. Instead, there is a spectrum of abnormalities in CLAPO syndrome, which can present either as an isolated lower lip CM, in association with lymphatic/venous malformations, or as a complete syndrome with asymmetry and overgrowth [2,6].…”

mentioning

confidence: 90%

Lower lip capillary malformation with sawtooth border in CLAPO syndrome

Jimenez‐Cauhe

Cerejeira

Fernández‐Nieto

et al. 2021

J Deutsche Derma Gesell

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mentioning

confidence: 90%

Lower lip capillary malformation with sawtooth border in CLAPO syndrome

Jimenez‐Cauhe

Cerejeira

Fernández‐Nieto

et al. 2021

J Deutsche Derma Gesell

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“…Subsequently, other entities have been added to this spectrum. Indeed, PIK3CA mutations have been described in 21 patients with Klippel-Trenaunay syndrome (KTS) (12), in capillary malformation of the lower lip, lymphatic malformations of the face and neck, asymmetry, and partial or generalized overgrowth (CLAPO) syndrome (13), and in diffuse capillary malformation with overgrowth (DCMO) (14).…”

Section: Capillary Malformationsmentioning

confidence: 99%

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

et al. 2021

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Vascular birthmarks are common in neonates (prevalence: 20–30%) and mostly incidental findings sometimes with spontaneous regression (salmon patch and nevus simplex). Capillary malformations are found in about 1% and infantile hemangiomas are found in 4% of mature newborns. Vascular malformations are classified according to their most prominent vessel type. The term “capillary malformation” (port wine stain) includes a wide range of vascular lesions with different characteristics; they may be isolated or part of specific syndromic conditions. Part of the infantile hemangiomas and of the vascular malformations may require treatment for functional or cosmetic reasons, and in rare cases, investigations are also necessary as they represent a clue for the diagnosis of complex vascular malformation or tumors associated with extracutaneous abnormalities. Complex vascular malformations are mostly mosaicism due to early somatic mutations. Genetic advances have led to identify the main pathogenic pathways involved in this disease group. Diffuse capillary malformation with overgrowth, Klippel–Trenaunay syndrome, CLAPO syndrome, CLOVES syndrome, and megalencephaly-capillary malformation belong to the PIK3CA-related overgrowth. Capillary malformation–arteriovenous malformation underlies a fast-flow vascular malformation, sometimes manifesting as Parkes–Weber syndrome. Recognition of these different types of capillary vascular stains is sometimes difficult; however, associated findings may orient the clinicians while genetic testing may confirm the diagnosis. Lymphatic malformation frequently manifests as large masses that compress and/or infiltrate the surrounding tissues, representing a neonatal emergency when airways are involved. Infantile hemangiomas may cause functional and/or permanent esthetical damage, depending on their localization (such as periorbital area, lip, nose); large (more than 5 cm) infantile hemangiomas with a segmental distribution can be associated with obstruction or malformations of the underneath organs with complications: PHACE syndrome, LUMBAR/SACRAL syndrome, and beard infantile hemangioma. In our review, we discuss controversies regarding the international classification and emerging concepts in the field of vascular anomalies. Finally, we discuss potential developments of new, non-invasive diagnostic techniques and repurposing of target therapies from oncology. Complex and/or life-threatening vascular tumors and malformations are extremely rare events and they represent a considerable therapeutic challenge. Early recognition of clinical signs suggestive for a specific disease may improve therapeutic outcomes and avoid severe complications.

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“…PIK3CA variants exhibit somatic mosaicism and are generally identified only in the affected tissues, often at low minor-allele frequencies [39]. Nonsyndromic children with vascular malformations or epidermal nevi may also have somatic mosaicism for PIK3CA variants limited to the affected tissue [40]. Thus, a molecular diagnosis of PROS may be challenging due to differing levels of mosaicism; a negative molecular result may not necessarily mean absence of the disease.…”

Section: Pik3ca-related Overgrowth Syndromesmentioning

confidence: 99%

Tumor risk and surveillance for children with hereditary disorders affecting growth

Brzezinski

Michaeli

Wasserman

2019

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of reviewHereditary disorders affecting growth (both overgrowth and growth retardation) are frequently associated with heightened risk of neoplastic disease. This review summarizes the tumor spectra associated with these conditions and identifies disease-specific screening approaches. Recent findingsAn understanding of the molecular events underlying many of these growth disorders has evolved significantly over the past several years. Recognition of genotype-phenotype associations, in many cases, informs the cancer risk profile. Additionally, accumulating data suggest a benefit of rational presymptomatic surveillance for at-risk individuals, with a reduction in tumor-associated morbidity. Recent clinical practice recommendations have established risk-driven paradigms for tumor surveillance in the context of hereditary tumor predisposition syndromes, including those affecting growth. SummaryClinicians caring for children with growth disorders should be aware of syndromic associations and the associated cancer risks. Knowledge of tumor spectra and recommended surveillance strategies may facilitate tumor diagnosis at an early stage and reduce morbidity of the disease and associated treatments.

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Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome

Cited by 7 publications

References 4 publications

Lower lip capillary malformation with sawtooth border in CLAPO syndrome

Lower lip capillary malformation with sawtooth border in CLAPO syndrome

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

Tumor risk and surveillance for children with hereditary disorders affecting growth

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