PTEN hamartoma tumour syndromes (PHTS): classification
Evidence-based neurology checklist on pten hamartoma tumour syndromes (phts): classification: PTEN gene mutation disorders Cowden syndrome (CS) Bannayan-Riley-Ruvalcaba syndrome Segmental storiform collagenomas Lhermitte-Duclos disease (LDD) Autism spectrum disorder with macrocephaly
PTEN gene mutation disorders
- Cowden syndrome (CS)
- Bannayan-Riley-Ruvalcaba syndrome
- Segmental storiform collagenomas
- Lhermitte-Duclos disease (LDD)
- Autism spectrum disorder with macrocephaly
References
- Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105:1607-1616.
- Nosé V. Genodermatosis affecting the skin and mucosa of the head and neck: clinicopathologic, genetic, and molecular aspect-PTEN-hamartoma tumor syndrome/Cowden syndrome. Head Neck Pathol 2016; 10:131-138.
- Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37:828-830.
- Anusic S, Clemens RK, Meier TO, Amann-Vesti BR. Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. BMJ Case Rep 2016; pii: bcr2016215188.
- Habeshian K, Huppmann A, Ferreira C, Kirkorian AY. Segmental storiform collagenomas: expanding the spectrum of PTEN hamartoma tumor syndrome in children. Pediatr Dermatol 2018; 35:e253-e254.
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