The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report
Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array of possible clinical presentations and the varying...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2024-04-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X241245317 |
| _version_ | 1797220084330004480 |
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| author | Kakha Bregvadze Sheeda Jabeen Shifa Mohamed Rafi Tinatin Tkemaladze |
| author_facet | Kakha Bregvadze Sheeda Jabeen Shifa Mohamed Rafi Tinatin Tkemaladze |
| author_sort | Kakha Bregvadze |
| collection | DOAJ |
| description | Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array of possible clinical presentations and the varying degrees of symptom severity, many individuals with phosphatase and tensin homolog hamartoma tumor syndromes might remain undiagnosed for an extended period. We describe a case of a male child who received the diagnosis at the age of 12. His clinical features included macrocephaly, hypertrophy in the left arm, thyroid nodules, penile freckles, developmental delay, and an autism spectrum disorder. Whole exome sequencing revealed a de novo heterozygous variant in the phosphatase and tensin homolog. The case highlights the diverse and complex nature of phosphatase and tensin homolog hamartoma tumor syndromes, emphasizing the necessity for early diagnosis, multidisciplinary care, and surveillance protocols, offering the potential for improved prognostic outcomes and enhanced quality of life for affected individuals. |
| first_indexed | 2024-04-24T12:43:55Z |
| format | Article |
| id | doaj.art-afa6763a4e654d9395c9eb47ecbbc06f |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-04-24T12:43:55Z |
| publishDate | 2024-04-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-afa6763a4e654d9395c9eb47ecbbc06f2024-04-07T10:03:25ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2024-04-011210.1177/2050313X241245317The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case reportKakha Bregvadze0Sheeda Jabeen1Shifa Mohamed Rafi2Tinatin Tkemaladze3Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaFaculty of Medicine, Tbilisi State Medical University, Tbilisi, GeorgiaFaculty of Medicine, Tbilisi State Medical University, Tbilisi, GeorgiaDepartment of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, GeorgiaGermline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array of possible clinical presentations and the varying degrees of symptom severity, many individuals with phosphatase and tensin homolog hamartoma tumor syndromes might remain undiagnosed for an extended period. We describe a case of a male child who received the diagnosis at the age of 12. His clinical features included macrocephaly, hypertrophy in the left arm, thyroid nodules, penile freckles, developmental delay, and an autism spectrum disorder. Whole exome sequencing revealed a de novo heterozygous variant in the phosphatase and tensin homolog. The case highlights the diverse and complex nature of phosphatase and tensin homolog hamartoma tumor syndromes, emphasizing the necessity for early diagnosis, multidisciplinary care, and surveillance protocols, offering the potential for improved prognostic outcomes and enhanced quality of life for affected individuals.https://doi.org/10.1177/2050313X241245317 |
| spellingShingle | Kakha Bregvadze Sheeda Jabeen Shifa Mohamed Rafi Tinatin Tkemaladze The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report SAGE Open Medical Case Reports |
| title | The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report |
| title_full | The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report |
| title_fullStr | The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report |
| title_full_unstemmed | The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report |
| title_short | The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report |
| title_sort | complexity of phosphatase and tensin homolog hamartoma tumor syndrome a case report |
| url | https://doi.org/10.1177/2050313X241245317 |
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