Rohan Khandelwal

Qualitative and quantitative dermatoglyphic traits in patients with breast cancer: a prospective clinical study

BackgroundBreast cancer is one of the most extensively studied cancers and its genetic basis is well established. Dermatoglyphic traits are formed under genetic control early in development but may be affected by environmental factors during first trimester of pregnancy. They however do not change significantly thereafter, thus maintaining stability not greatly affected by age. These patterns may represent the genetic make up of an individual and therefore his/her predisposition to certain diseases. Patterns of dermatoglyphics have been studied in various congenital disorders like Downs syndrome and Kleinfelter syndrome. The prints can thus represent a non-invasive anatomical marker of breast cancer risk and thus facilitate early detection and treatment.MethodsThe study was conducted on 60 histo-pathologically confirmed breast cancer patients and their digital dermatoglyphic patterns were studied to assess their association with the type and onset of breast cancer. Simultaneously 60 age-matched controls were also selected that had no self or familial history of a diagnosed breast cancer and the observations were recorded. The differences of qualitative (dermatoglyphic patterns) data were tested for their significance using the chi-square test, and for quantitative (ridge counts and pattern intensity index) data using the t- test.ResultsIt was observed that six or more whorls in the finger print pattern were statistically significant among the cancer patients as compared to controls. It was also seen that whorls in the right ring finger and right little finger were found increased among the cases as compared to controls. The differences between mean pattern intensity index of cases and controls were found to be statistically significant.ConclusionThe dermatoglyphic patterns may be utilized effectively to study the genetic basis of breast cancer and may also serve as a screening tool in the high-risk population. In a developing country like India it might prove to be an anatomical, non-invasive, inexpensive and effective tool for screening and studying the patterns in the high-risk population.

Patient and provider delays in breast cancer patients attending a tertiary care centre: a prospective study

Objectives To find out factors that are responsible for the patient or provider delays in the diagnosis of breast cancer in India. Design This prospective study was designed to be conducted over a period of two years including a cohort of 100 patients with locally advanced breast cancer. The delays were assessed using questionnaires prepared according to the Indian scenario. Setting A prospective study in an Indian setting. Participants One hundred patients with locally advanced breast cancer receiving neoadjuvant chemotherapy were included after providing informed consent and receiving ethical committee clearance. Main outcome measures The most common factor responsible for delays in diagnosis was observed to be the health providers, although illiteracy and lack of adequate healthcare services also contributed significantly. Unregistered medical practitioners or quacks contributed significantly to the delays in reporting and diagnosis of the disease. Results One hundred patients of locally advanced breast cancer were evaluated using standardized questionnaires to assess the delays in diagnosis. Provider delays were found to be significant (the unregistered doctors or quacks being a significant cause of delays).The average time lapse before diagnosis for rural patients was higher (67.5 days) compared to urban patients (53.7 days). The literacy levels of the patients also had a significant impact on the delays at diagnosis. The delay in illiterates was 60.6 days compared to 49.5 days for literates. Conclusions The most common factor responsible for delays in reporting and diagnosis was observed to be at the end of the health providers, although illiteracy and lack of adequate healthcare services also contributed significantly. Unregistered medical practitioners or quacks contributed significantly to the delays in reporting and diagnosis of the disease.

Liposarcoma of the spermatic cord: a diagnostic dilemma

Malignant lesions of the spermatic cord are rare with only around 100 cases reported in the world literature.1–5 Most of these cancers are sarcomas that present as slow-growing inguinal or scrotal masses. There have been occasions when an effort had to be made to differentiate them from inguinal hernias, funicular cysts, lipomas of the cord, et cetera.3–6 Preoperative diagnosis is not common and usually they present as operative or histological surprises. The recommended treatment is surgery in the form of wide local excision which in most cases is in the form of radical high orchiectomy from as close to the deep ring as possible. There is no indication for routine lymph node dissections as the loco-regional lymph nodes are rarely involved. The outcome is fairly good in most cases if the resection is R0 (microscopic freedom from cancer). Adjuvant radiotherapy is usually not required except in cases with positive margins or local recurrence and poor prognostic factors. There is no definite role of chemotherapy and most of the recommendations are based on cases with recurrences. These cancers are, however, known for local recurrences and long-term follow-up of up to 10 years is mandatory; even recurrences after 20 years have been reported.5–7

Vulval elephantiasis as a result of tubercular lymphadenitis: two case reports and a review of the literature

IntroductionElephantiasis as a result of chronic lymphedema is characterized by gross enlargement of the arms, legs or genitalia, and occurs due to a variety of obstructive diseases of the lymphatic system. Genital elephantiasis usually follows common filariasis and lymphogranuloma venereum. It may follow granuloma inguinale, carcinomas, lymph node dissection or irradiation and tuberculosis but this happens rarely. Vulval elephantiasis as a consequence of extensive lymph node destruction by tuberculosis is very rare. We present two very unusual cases of vulval elephantiasis due to tuberculous destruction of the inguinal lymph nodes.Case presentationTwo Indian women - one aged 40 years and the other aged 27 years, with progressively increasing vulval swellings over a period of five and four years respectively - presented to our hospital. In both cases, there was a significant history on presentation. Both women had previously taken a complete course of anti-tubercular treatment for generalized lymphadenopathy. The vulval swellings were extremely large: in the first case report, measuring 35 × 25 cm on the right side and 45 × 30 cm on the left side, weighing 20 lb and 16 lb respectively. Both cases were managed by surgical excision with reconstruction and the outcome was positive. Satisfactory results have been maintained during a follow-up period of six years in both cases.ConclusionsElephantiasis of the female genitalia is unusual and it has rarely been reported following tuberculosis. We report two cases of vulval elephantiasis as a consequence of extensive lymph node destruction by tuberculosis, in order to highlight this very rare clinical scenario.

Axillary reverse mapping: Is it feasible in locally advanced breast cancer patients?

INTRODUCTION Axillary dissection is associated with a high incidence of lymphedema, which has been brought down with the introduction of sentinel lymph node biopsy (SLNB) in patients with early breast cancer. However, sentinel lymph node biopsy is not widely accepted in patients of locally advanced breast cancer (LABC) [T3N1, Any T4, Any N2-3 with no distant metastasis] after neo-adjuvant chemotherapy (NACT) and these patients routinely undergo axillary lymph node clearance. Axillary reverse mapping (ARM) with blue dye has the potential to differentiate the arm lymphatics from the breast lymphatics and it can be used to decrease lymphedema in patients undergoing ALND by preserving these lymphatics. However, ARM in LABC patients is yet to be accepted as the standard of care. MATERIALS AND METHODS 51 patients of locally advanced breast carcinoma were included in the study from May 2011 to May 2012. All patients received neo-adjuvant chemotherapy followed by modified radical mastectomy. Axillary reverse mapping (ARM) was carried out using blue dye. 2 ml of methylene blue dye was injected intradermal, upper medial aspect of the ipsilateral arm. The number, size and site and distribution of lymph nodes identified were recorded and the nodes were labelled as ARM nodes and complete axillary dissection was carried out. RESULTS Blue nodes were identified in 45 (88.2%) out of the 51 patients. The average number of ARM nodes identified was 4.03 ± 0.28 [range 1-8]. In majority (77.8%) of the cases, nodes were located in the triangle formed by axillary vein above, below by the first intercostobrachial nerve and medially by the chest wall/serratus anterior. In patients with complete or partial response to NACT, ARM and breast axillary LN were negative in 63.3% patients whereas 36.6% had positive breast but negative ARM nodes. In this study we did not intend to preserve any ARM nodes but in 90% of these cases, at least one ARM node had to be removed or was injured during axillary clearance. ARM nodes could be identified in 15 (83.3%) out of the 18 patients with stable or progressive disease following ARM. 12 (80%) out of these 15 cases demonstrated positive ARM and breast LN whereas 3 (20%) patients had positive breast but negative ARM nodes. Skin tattooing (82.3%) was the most common complication observed in our study. CONCLUSIONS Identification rates of ARM nodes can be improved by injecting the blue dye in the upper medial aspect of the arm at the time of induction. Majority of the arm nodes lie between the axillary vein and the first intercostobrachial nerve. It is difficult to preserve the ARM nodes in patients of LABC, who have had good response to NACT and in patients of LABC with poor response to NACT, the incidence of metastasis in ARM nodes is quite high. Therefore, ARM is not a feasible option in patients with locally advanced breast cancer.

Breast tuberculosis mimicking a malignancy: A rare case report with review of literature

Breast tuberculosis an uncommon form of tuberculosis and it usually presents as a lump in the breast. Tuberculosis of the breast can masquerade many breast diseases including malignancy and idiopathic granulomatous mastitis. The varied presentation poses a diagnostic and therapeutic dilemma for the clinicians. We report a case of a 56 year old lady who presented with a lump in the breast and overlying skin ulceration, which resembled a malignancy on clinical examination and radiological investigations. Histo-pathology confirmed the diagnosis of tuberculosis and the patient responded to anti tubercular drugs.

Carcinoma developing in a fibroadenoma in a woman with a family history of breast cancer: a case report and review of literature

IntroductionMalignant transformation of a fibroadenoma is rare with only about 100 cases reported in the world literature. Fibroadenoma occurring in middle aged woman with a strong family history of breast or ovarian cancer should be investigated with a high suspicion for malignancy.Case presentationA 35-year- old Indian lady operated previously for fibroadenoma of the right breast presented with a recurrent lump at the same site. She had a strong family history of breast carcinoma. Mammography and trucut biopsy was suggestive of infiltrating duct carcinoma. She was managed by lumpectomy and axillary lymph node dissection with a satisfactory outcome. There was no evidence of BRCA-1, BRCA-2 mutation on immunohistochemistry.ConclusionMalignant change in a pre-existing fibroadenoma is rare, however in a middle aged woman with a family history of breast cancer it should be suspected. In the absence of any definite clinical and radiological criteria of diagnosing malignant change in a fibroadenoma, high suspicion index is mandatory. The management and outcome depends on the stage and grade of presentation.

Idiopathic granulomatous mastitis: A rare entity with a variable presentation

BACKGROUND Idiopathic granulomatous mastitis (IGM) is a rare, chronic benign breast disease which may mimic a breast abscess or malignancy. It is a diagnosis of exclusion, and requires a high index of suspicion. Most patients present in the third or fourth decade of life. CASE SERIES We present a case series of IGM with varied presentation, as a non-resolving abscess and as a lump, clinically appearing to be malignant. Patients required repeated drainage and/or lumpectomy. CONCLUSION Although IGM is considered to be autoimmune in aetiology, however other infectious aetiologies causing granulomatous mastitis and malignancy have to be ruled out by histopathology. In the event of relapse immunosuppression may be required.

Kimura's disease masquerading as parotid malignancy

Kimuras disease is a rare chronic inflammatory disease of unknown etiology, which was initially described in 19371 but popularized in 1947 by Kimura.2 Only about 200 cases have been reported in the literature hence mis-diagnosis and non-recognition are common. It generally affects the skin, soft tissues and lymphatics of the head and neck region and, rarely, it may involve other regions like retro peritoneum, groin, and trunks and limbs.3–6 The lymph node groups, especially the axillary, epitrochlear, popliteal and inguinal, may be more commonly involved. Presentation in the form of subcutaneous swellings, lymphadenopathy and recurrences after treatment being common make confusion with malignancy likely as in the presented case. All forms of treatment have been tried – including surgery, radiotherapy, immunosuppressive therapy, etc. However, there is no consensus on the correct modality in view of the limited number of reported cases and the treatment remains individualized. There is a very high incidence of recurrence following surgery or other treatment modalities.6–8 The disease more commonly affects Asian men in their second and third decades. The usual clinical features include multiple, painless, subcutaneous swellings and generalized lymphadenopathy accompanied by peripheral eosinophilia and raised serum immunoglobulins, especially IgE. Unlike most allergic disorders, the overlying skin is usually healthy. The only known systemic manifestation is renal involvement in the form of glomerulonephritis and, rarely, nephrotic syndrome. It is thought to be more common in Asia – especially in Japan and China – however, sporadic cases from the West have also been reported.3 In the presented case, on account of history of recurrence and the hard consistency of the gland associated with regional lymphadenopathy there was reason to suspect malignancy. Fine needle aspiration cytology (FNAC) was inconclusive on two occasions and the patient was treated as a suspected case of parotid malignancy. Kimuras disease was thus a histo-pathological surprise.

Poland's syndrome: a case report with review of literature regarding management.

BACKGROUND Polands syndrome is a rare congenital anomaly described by Alfred Poland in 1897 which is characterize by partial or complete absence of the pectoralis major muscle, ipsilateral symbrachydaktylia and occasionally associated with other malformations of the anterior chest wall and breast. The incidence of Polands syndrome is 1: 30,000 and it is more commonly seen in males. CASE DESCRIPTION A 22-year-old female presented with a history of chest wall depression and a small sized left breast. On examination she had unilateral hypoplasia of the left breast, absence of the anterior axillary fold and hypoplastic pectoralis major and minor muscle with mild pectus excavatum. The patients breast was reconstructed with an autologous anterolateral thigh (ALT) perforator flap after using an expander. DISCUSSION This case illustrates the potential benefit of utilizing autologous ALT perforator flap in a girl with Polands syndrome with a deformed chest wall with hypoplasia of pectoral muscles and absence of the anterior axillary fold which makes positioning of an implant difficult. Breast reconstruction using a microvasular perforator flap is an alternative method to restore the contour of the chest and breast without the use of an implant.