   |
|
E-QUIZ |
|
| Year : 2013 | Volume
: 58
| Issue : 4 | Page : 330 |
|
| A 54-year-old female with skin lesions and history of renal cell carcinoma |
|
|
Nasim Valizadeh
Department of Hematology/Medical Oncology, Urmia University of Medical Sciences, Urmia, Iran
| Date of Web Publication | 25-Jun-2013 |
Correspondence Address:
Nasim Valizadeh
Department of Hematology/Medical Oncology, Urmia University of Medical Sciences, Urmia
Iran
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0019-5154.114005
|
|
How to cite this article:
Valizadeh N. A 54-year-old female with skin lesions and history of renal cell carcinoma. Indian J Dermatol 2013;58:330 |
A 54-year-old woman was admitted with left hip joint pain and limitation of motion. She had history of left-sided radical nephrectomy for renal cell carcinoma (RCC), chromophilic type 5.5 years ago. Her father and mother were dead because of malignancies a long ago (she did not know which type). One of her children was dead with leukemia, and she had 11 healthy children. Physical examination showed skin lesions (she had them since childhood) on her back of neck [Figure 1] and both shoulders [Figure 2] and [Figure 3]. She had limitation of motion in left hip joint movements. Fasting blood sugar, complete blood count diff, blood urea nitrogen, creatinine, Na, K, aspartate transaminase, alanine transaminase, alkaline phosphatase, and albumin were reported normally. Electrocardiogram and chest X-ray were normal. | Figure 1: Fibrofolliculomas (multiple pale dome - shaped papules) on the back of her neck
Click here to view |
 | Figure 2: Acrochordon: A large pedunculated fibroma on the right shouder
Click here to view |
Further evaluation revealed RCC with metastasis to lungs [Figure 4] in chest computed tomography scan and a large left hemipelvic mass with eroding of innominate bone, ischiopubic ramous, and partial impression of left femoral head in pelvic magnetic resonance imaging [Figure 5] suggestive of metastasis. | Figure 4: Bilateral multiple nodular metastasis in both lung fields is seen in chest computed tomography scan
Click here to view |
 | Figure 5: A large left hemipelvic mass with eroding of innominate bone, ischiopubic ramous, and partial impression of left femoral head in pelvic magnetic resonance imaging suggestive of metastasis
Click here to view |
 Questions | |  |
- What do you see in [Figure 1]?
- What do you see in [Figure 2] and [Figure 3]?
- Which syndrome do you consider for this patient?
 View Answer
| Answers | | |
- Fibrofolliculomas (multiple pale dome-shaped papules) on the back of her neck
- Acrochordons (skin fibromas)
- Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome is an autosomal dominant disease. In 1977, three Canadian physicians reported members of a family with multiple skin trichodiscomas, acrochordons (skin fibromas), and fibrofolliculomas. [1] Affected gene is mapped on the 17 P chromosome. [2] In 2002, Nickerson et al. discovered folliculin gene at this locus. [3] Patients may suffer from pulmonary cysts, spontaneous pneumothorax, and renal tumors. [4] Multiple or bilateral RCCs most frequently of chromophobe and hybrid oncocytic histology have association with this syndrome, but clear cell and papillary RCC are less frequently found in this syndrome. [5],[6],[7]
| References | | |
| 1. | Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-7. 
|
| 2. | Khoo SK, Bradley M, Wong FK, Hedblad MA, Nordenskjöld M, Teh BT, et al. Birt-Hogg-Dubé syndrome: Mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 2001;20:5239-42.
|
| 3. | Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2002;2:157-64.
|
| 4. | Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 2002;11:393-400.
|
| 5. | Adley BP, Smith ND, Nayar R, Yang XJ. Birt-Hogg-Dubé syndrome: Clinicopathologic findings and genetic alterations. Arch Pathol Lab Med 2006;130:1865-70.
|
| 6. | Roth JS, Rabinowitz AD, Benson M, Grossman ME. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1993;29:1055-6.
|
| 7. | Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, et al. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol 2002;26:1542-52.
|
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5] |
|
|
|
|
|
|
|
|
|
|
|
|
| Article Access Statistics | | | Viewed | 4044 | | | Printed | 52 | | | Emailed | 0 | | | PDF Downloaded | 56 | | | Comments | [Add] | | |
|
|
