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Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma.
- Source :
-
Dermatology online journal [Dermatol Online J] 2024 Jul 15; Vol. 30 (3). Date of Electronic Publication: 2024 Jul 15. - Publication Year :
- 2024
-
Abstract
- Tetrasomy 9p is a rare genetic syndrome resulting from two additional copies of the short arm of chromosome 9. Symptoms often present in the form of congenital abnormalities including cognitive disabilities, growth retardation, abnormal earlobes, congenital heart disease, and dysmorphia of the skull and face. Current literature suggests patients with tetrasomy 9p may exhibit any combination of these symptoms or, in rare instances, none at all. Although karyotyping, chromosomal microarray, and galactose-1-phosphate uridyltransferase activity analyses are the definitive diagnostic methods used, there remains a need for more robust clinical recognition in cases of mild phenotypic expression. Herein, we present a rare case of mosaic tetrasomy 9p in a long-term survival patient with multiple and recurrent pilomatrixomas, rare benign growths more commonly found in individuals under the age of 20. To our knowledge, only two previous reports have noted concurrent tetrasomy 9p with pilomatrixomas. We are the first to identify this phenotype in an adult tetrasomy 9p patient. Dermatopathology evaluation was conducted to verify our diagnoses. Our aim is to present a unique, additional case suggesting multiple pilomatrixomas as a new defining clinical presentation of mosaic tetrasomy 9p and to review the literature underlying the genetic changes associated with this syndrome.
- Subjects :
- Humans
Neoplasm Recurrence, Local genetics
Neoplasm Recurrence, Local pathology
Hair Diseases genetics
Hair Diseases pathology
Hair Diseases diagnosis
Male
Adult
Female
Pilomatrixoma genetics
Pilomatrixoma pathology
Pilomatrixoma diagnosis
Skin Neoplasms genetics
Skin Neoplasms pathology
Skin Neoplasms diagnosis
Mosaicism
Chromosomes, Human, Pair 9 genetics
Aneuploidy
Subjects
Details
- Language :
- English
- ISSN :
- 1087-2108
- Volume :
- 30
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Dermatology online journal
- Publication Type :
- Academic Journal
- Accession number :
- 39090039
- Full Text :
- https://doi.org/10.5070/D330363866