Reverse Referral: From Pathology to Endocrinology
| Autor: | Sarangarajan Ranganathan, Selma F. Witchel, Megan M. Kilpatrick, Sally E. Carty |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
medicine.medical_specialty
Pathology Skin Neoplasms Adolescent endocrine system diseases Pathology Surgical Endocrinology Diabetes and Metabolism DNA Mutational Analysis Nonsense mutation Asymptomatic Pathology and Forensic Medicine Endocrinology Internal medicine Multiple Endocrine Neoplasia Type 1 medicine Humans Endocrine system MEN1 Multiple endocrine neoplasia Referral and Consultation Hyperparathyroidism business.industry Genetic heterogeneity General Medicine medicine.disease Codon Nonsense Female Collagen medicine.symptom business Primary hyperparathyroidism |
| Zdroj: | Endocrine Pathology. 20:78-83 |
| ISSN: | 1559-0097 1046-3976 |
| DOI: | 10.1007/s12022-009-9059-1 |
| Popis: | Establishing a diagnosis of multiple endocrine neoplasia type 1 (MEN1) especially in children, adolescents, and young adults can be challenging because of phenotypic heterogeneity even among family members. We report an adolescent girl diagnosed to have MEN1 following presentation with multiple collagenomas. Histological evaluation of her cutaneous lesions revealed >70 collagenomas. Hormonal evaluation included calcium, phosphate, and parathormone measurements. Exons 2–10 of the MEN1 gene and flanking intron–exon borders were sequenced and revealed a novel nonsense mutation, Y222X. Following the identification of the cutaneous lesions as collagenomas by the pathologist, the patient was referred for an endocrine evaluation which revealed asymptomatic primary hyperparathyroidism. The patient elected to have surgery at which time she was found to have parathyroid hyperplasia. This case emphasizes the usefulness of cutaneous findings for the diagnosis and management of MEN1. |
| Databáze: | OpenAIRE |
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