PMID- 28541267
OWN - NLM
STAT- MEDLINE
DCOM- 20190624
LR  - 20190624
IS  - 1937-1578 (Electronic)
IS  - 1935-1089 (Linking)
VI  - 13
IP  - 3
DP  - 2019 Summer
TI  - CHOROIDAL MELANOMA, SECTOR MELANOCYTOSIS, AND RETINAL PIGMENT EPITHELIAL 
      MICRODETACHMENTS IN BIRT-HOGG-DUBE SYNDROME.
PG  - 202-206
LID - 10.1097/ICB.0000000000000595 [doi]
AB  - PURPOSE: Birt-Hogg-Dube Syndrome (BHDS) is a rare autosomal dominant condition 
      that can predispose patients to numerous cutaneous fibrofolliculomas and other 
      cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal 
      renal tumors and cancer. The genetic mutations responsible for BHDS are related 
      to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. 
      Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, 
      "flecked chorioretinopathy," and one report of choroidal melanoma. We report a 
      patient with BHDS who presented with choroidal melanoma, sector melanocytosis, 
      and retinal pigment epithelial microdetachments. METHODS: Observational case 
      report. RESULTS: A 38-year-old man with BHDS manifesting with facial 
      fibrofolliculomas/tricodiscomas and pulmonary cysts with previous pneumothorax of 
      both lungs was noted to have a large choroidal nevus, managed with observation 
      elsewhere. On referral 1 year later, photopsia and visual field defect were 
      noted, and the patient was discovered to have subtle patchy sector ocular 
      melanocytosis of the iris and choroid with choroidal melanoma and dependent 
      subretinal fluid. The melanoma measured 14 mm in basal dimension and 6.8 mm in 
      thickness. In addition, pinpoint retinal pigment epithelial microdetachments were 
      observed in both eyes at the equator and confirmed on optical coherence 
      tomography. Custom-fit plaque radiotherapy was provided for tumor control. 
      CONCLUSION: The BHDS can be associated with tumors of the skin and kidney. In 
      this case, we noted ocular melanocytosis, malignant choroidal melanoma, and 
      bilateral pinpoint retinal pigment epithelial detachments.
FAU - Marous, Charlotte L
AU  - Marous CL
AD  - Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, 
      Philadelphia, Pennsylvania.
FAU - Marous, Molly R
AU  - Marous MR
FAU - Welch, R Joel
AU  - Welch RJ
FAU - Shields, Jerry A
AU  - Shields JA
FAU - Shields, Carol L
AU  - Shields CL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Observational Study
PL  - United States
TA  - Retin Cases Brief Rep
JT  - Retinal cases & brief reports
JID - 101298744
SB  - IM
MH  - Adult
MH  - Birt-Hogg-Dube Syndrome/*pathology
MH  - Choroid Neoplasms/*pathology
MH  - Humans
MH  - Male
MH  - Melanocytes/*pathology
MH  - Retinal Detachment/*pathology
MH  - Retinal Pigment Epithelium/pathology
EDAT- 2017/05/26 06:00
MHDA- 2019/06/25 06:00
CRDT- 2017/05/26 06:00
PHST- 2017/05/26 06:00 [pubmed]
PHST- 2019/06/25 06:00 [medline]
PHST- 2017/05/26 06:00 [entrez]
AID - 10.1097/ICB.0000000000000595 [doi]
PST - ppublish
SO  - Retin Cases Brief Rep. 2019 Summer;13(3):202-206. doi: 
      10.1097/ICB.0000000000000595.