Frontiers in pediatrics · 2026
Case Report: CLAPO syndrome: a case management and literature review.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Wang Liang, Wang Ming, Li Xiaojuan, Jiao Bingxuan, Song Dan
Аннотация
BACKGROUND: CLAPO syndrome, a condition potentially associated with the PIK3CA-related overgrowth spectrum, is a rare vascular malformation that was first reported in 2008 and formally incorporated into the ISSVA classification in 2018.
OBJECTIVE: This study intends to investigate the clinical features of CLAPO syndrome.
METHODS: We report one clinical case of CLAPO syndrome admitted to our hospital and retrospectively summarize findings of all previously published relevant cases.
RESULTS: Together with the current case in this study, a total of 31 patients across 11 publications were enrolled for analysis. All 31 patients exhibited lower lip capillary malformation (CM). Additionally, lymphatic malformations were observed in 25 cases, venous malformations in 17 cases, and varying degrees of tissue overgrowth in 10 patients.
LIMITATIONS: Due to the extremely low incidence of this disease, the sample size is relatively small. Further studies are required to clarify its pathogenesis, therapeutic efficacy and genetic characteristics.
CONCLUSION: Lower lip CM serves as a predominant manifestation of CLAPO syndrome. Clinicians should raise the suspicion of CLAPO syndrome in patients presenting with lower lip CM. Notably, enlarged venous vessels visible on the median raphe of the tongue may also be regarded as a clinical feature of CLAPO syndrome.
OBJECTIVE: This study intends to investigate the clinical features of CLAPO syndrome.
METHODS: We report one clinical case of CLAPO syndrome admitted to our hospital and retrospectively summarize findings of all previously published relevant cases.
RESULTS: Together with the current case in this study, a total of 31 patients across 11 publications were enrolled for analysis. All 31 patients exhibited lower lip capillary malformation (CM). Additionally, lymphatic malformations were observed in 25 cases, venous malformations in 17 cases, and varying degrees of tissue overgrowth in 10 patients.
LIMITATIONS: Due to the extremely low incidence of this disease, the sample size is relatively small. Further studies are required to clarify its pathogenesis, therapeutic efficacy and genetic characteristics.
CONCLUSION: Lower lip CM serves as a predominant manifestation of CLAPO syndrome. Clinicians should raise the suspicion of CLAPO syndrome in patients presenting with lower lip CM. Notably, enlarged venous vessels visible on the median raphe of the tongue may also be regarded as a clinical feature of CLAPO syndrome.