Case Report: CLAPO syndrome: a case management and literature review - Report - MDSpire

Case Report: CLAPO syndrome: a case management and literature review

  • By

  • Liang Wang

  • Ming Wang

  • Xiaojuan Li

  • Bingxuan Jiao

  • Dan Song

  • July 8, 2026

  • 0 min

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Clinical Report: Clinical Insights into CLAPO Syndrome

Background

CLAPO syndrome is a rare vascular malformation associated with the PIK3CA-related overgrowth spectrum. It was first reported in 2008 and included in the ISSVA classification in 2018. Understanding its clinical features is essential for accurate diagnosis and management.

Data Highlights

CharacteristicCount
Patients with lower lip CM31
Patients with lymphatic malformations25
Patients with venous malformations17
Patients with tissue overgrowth10

Key Findings

  • All 31 patients exhibited lower lip capillary malformation (CM).
  • Lymphatic malformations were observed in 25 cases.
  • Venous malformations were noted in 17 cases.
  • Varying degrees of tissue overgrowth were present in 10 patients.
  • Enlarged venous vessels on the median raphe of the tongue may be a clinical feature of CLAPO syndrome.

Clinical Implications

Clinicians should consider CLAPO syndrome in patients presenting with lower lip capillary malformation.

Conclusion

Lower lip capillary malformation is a predominant manifestation of CLAPO syndrome.

Related Resources & Content

  1. Genetics in Medicine, 2017 -- CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
  2. Clinical Rheumatology — A Case Review of Takayasu Arteritis Associated with SAPHO Syndrome
  3. European Radiology — A Systematic Review of Cytotoxic Lesions Affecting the Corpus Callosum
  4. The Journal of Clinical Endocrinology & Metabolism — A Structured Method for Analyzing Exome Sequencing in Early-Onset Primary Ovarian Insufficiency
  5. BMC Psychiatry (Springer) — A multidisciplinary approach to establishing clozapine in a patient with schizophrenia and comorbid ASD: a case report
  6. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype | Genetics in Medicine
  7. VIJOICE (alpelisib) Highlights of Prescribing Information
  8. Sirolimus treatment for intractable lymphatic anomalies: an open-label, single-arm, multicenter, prospective trial - PubMed

Original Source(s)

Case Report: CLAPO syndrome: a case management and literature review

  • by Liang Wang, Ming Wang, Xiaojuan Li, Bingxuan Jiao, Dan Song

  • July 8, 2026

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