PMID- 19205629
OWN - NLM
STAT- MEDLINE
DCOM- 20090605
LR  - 20211020
IS  - 1046-3976 (Print)
IS  - 1046-3976 (Linking)
VI  - 20
IP  - 1
DP  - 2009 Spring
TI  - Reverse referral: from pathology to endocrinology.
PG  - 78-83
LID - 10.1007/s12022-009-9059-1 [doi]
AB  - 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.
FAU - Witchel, Selma Feldman
AU  - Witchel SF
AD  - Department of Pediatrics, Children's Hospital of Pittsburgh, University of 
      Pittsburgh, Pittsburgh, PA, USA. selma.witchel@chp.edu
FAU - Ranganathan, Sarangarajan
AU  - Ranganathan S
FAU - Kilpatrick, Megan
AU  - Kilpatrick M
FAU - Carty, Sally E
AU  - Carty SE
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Endocr Pathol
JT  - Endocrine pathology
JID - 9009288
RN  - 0 (Codon, Nonsense)
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Adolescent
MH  - Codon, Nonsense
MH  - Collagen
MH  - DNA Mutational Analysis
MH  - *Endocrinology
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/genetics/physiopathology
MH  - *Pathology, Surgical
MH  - *Referral and Consultation
MH  - Skin Neoplasms/*pathology
EDAT- 2009/02/12 09:00
MHDA- 2009/06/06 09:00
CRDT- 2009/02/12 09:00
PHST- 2009/02/12 09:00 [entrez]
PHST- 2009/02/12 09:00 [pubmed]
PHST- 2009/06/06 09:00 [medline]
AID - 10.1007/s12022-009-9059-1 [doi]
PST - ppublish
SO  - Endocr Pathol. 2009 Spring;20(1):78-83. doi: 10.1007/s12022-009-9059-1.