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Marjolin's Ulcer in Laron Syndrome - an Unexpected Combination: A Case Report

de la Paz EM

Malays Orthop J, 2020 Mar;14(1):78-80.
PMID: 32296486 DOI: 10.5704/MOJ.2003.012

Marjolin's ulcer is an atypical malignancy that develops from deep scars of chronically traumatised skin. Laron syndrome (LS) is a rare autosomal recessive growth retardation from a mutation in the growth hormone receptor (GHR) gene leading to defective GHR, growth hormone insensitivity and eventual low levels of insulin-like growth factor type 1 (IGF-1). Affected individuals present with proportionate dwarfism and other characteristic physical defects, but at the same time are conferred protection against cancer due to low serum levels of IGF-1. We report an exceptional case of Marjolin's ulcer in the foot of a female LS patient 30 years after she sustained flame burns as a 6-month-old baby. Three months before coming to us, she had a 2x3cm ulcer that turned into a rapidly enlarging fungating mass involving the leg, ankle, and foot. Histopathologic analysis of an incision biopsy showed well-differentiated squamous cell carcinoma. The extent of her lesion precluded wide excision. Below knee amputation was done. A second biopsy confirmed the histopathologic diagnosis. This is the first reported case in the literature of Marjolin's ulcer in LS which raises the possibility that IGF-1 deficiency does not completely protect against squamous cell cancer.

Matched MeSH terms: Biopsy
Fulltext The biopsy of nonpalpable breast lesions detected on mammography

Zulfiqar MA, Nair S, Lily M, Norizan MA

Med J Malaysia, 1999 Dec;54(4):471-7.
PMID: 11072464

This is a review of the positive biopsy rate of nonpalpable breast lesions detected on mammography. The histology of 130 hookwire excision biopsy from 1990 to 1995 and the cytology of 39 stereotactic fine needle aspiration cytology in 1995 were reviewed. The yearly positive biopsy rate of each procedure was determined. In 1990, the positive biopsy rate for hookwire excision biopsy was 15%, in 1991 20%, in 1992 11%, in 1993 17%, in 1994 33% and in 1995 39%. In 1995, the positive biopsy rate for stereotactic fine needle aspiration cytology was 21%. The positive biopsy rate for hookwire excision biopsy had improved from 15% in 1990 to 39% in 1995.

Matched MeSH terms: Biopsy/methods
Fulltext Prebiopsy localization of nonpalpable breast lesions

Zulfiqar A, Param V, Meah FA, Nair S, Siti-Aishah MA, Norizan A

Med J Malaysia, 1993 Sep;48(3):317-24.
PMID: 8183145

Radiologically guided localization procedures are indicated pre-operatively when breast lesions are nonpalpable. The results of 42 percutaneous hookwire localizations over a period of 3 years are described. Of the total, 7 (17%) were found to be malignant. Biopsy was indicated by mammographically detected mass in 48%, by microcalcifications in 40% and by microcalcifications with an associated mass in 12%.

Matched MeSH terms: Biopsy
Fulltext Extranodal natural killer/T-cell lymphoma presenting as orbital cellulitis

Zuhaimy H, Aziz HA, Vasudevan S, Hui Hui S

GMS Ophthalmol Cases, 2017;7:Doc04.
PMID: 28194321 DOI: 10.3205/oc000055

Objective: To report an aggressive case of extranodal natural killer/T-cell lymphoma (NKTCL) of the ethmoid sinus presenting as orbital cellulitis Method: Case report Results: A 56-year-old male presented with right eye redness, reduced vision, and periorbital swelling for 5 weeks duration associated with a two-month history of blocked nose. The visual acuity of the right eye was 6/18. The eye was proptosed with periorbital oedema and conjunctival chemosis. The pupil was mid-dilated but there was no relative afferent pupillary defect. The fundus was normal. The extraocular movements were restricted in all directions of gaze. Nasal endoscopy revealed pansinusitis that corresponded with CT scan orbit and paranasal sinuses findings. Despite treatment, he showed no clinical improvement. Ethmoidal sinus biopsies performed revealed extranodal NKTCL. Further imaging showed involvement of the right orbital contents and its adnexa with intracranial extension into the right cavernous sinus and meninges over right temporal fossa. The patient underwent chemotherapy. However he succumbed to his illness two months after the diagnosis. Conclusion: Extranodal NKTCL is a great mimicker. This case demonstrated how an acute initial presentation of extranodal NKTCL can present as orbital cellulitis with pansinusitis.

Matched MeSH terms: Biopsy
Fulltext Hepatocyte apoptosis fragment product cytokeratin-18 M30 level and non-alcoholic steatohepatitis risk diagnosis: an international registry study

Zhang H, Rios RS, Boursier J, Anty R, Chan WK, George J, et al.

Chin Med J (Engl), 2023 Feb 05;136(3):341-350.
PMID: 36848175 DOI: 10.1097/CM9.0000000000002603

BACKGROUND: Liver biopsy for the diagnosis of non-alcoholic steatohepatitis (NASH) is limited by its inherent invasiveness and possible sampling errors. Some studies have shown that cytokeratin-18 (CK-18) concentrations may be useful in diagnosing NASH, but results across studies have been inconsistent. We aimed to identify the utility of CK-18 M30 concentrations as an alternative to liver biopsy for non-invasive identification of NASH.
METHODS: Individual data were collected from 14 registry centers on patients with biopsy-proven non-alcoholic fatty liver disease (NAFLD), and in all patients, circulating CK-18 M30 levels were measured. Individuals with a NAFLD activity score (NAS) ≥5 with a score of ≥1 for each of steatosis, ballooning, and lobular inflammation were diagnosed as having definite NASH; individuals with a NAS ≤2 and no fibrosis were diagnosed as having non-alcoholic fatty liver (NAFL).
RESULTS: A total of 2571 participants were screened, and 1008 (153 with NAFL and 855 with NASH) were finally enrolled. Median CK-18 M30 levels were higher in patients with NASH than in those with NAFL (mean difference 177 U/L; standardized mean difference [SMD]: 0.87 [0.69-1.04]). There was an interaction between CK-18 M30 levels and serum alanine aminotransferase, body mass index (BMI), and hypertension ( P

Matched MeSH terms: Biopsy
Fulltext Malignant pancreatic carcinoid tumour

Zarina AL, Hamidah A, Zulkifli SZ, Zulfiqar MA, Jamal R

Singapore Med J, 2007 Dec;48(12):e320-2.
PMID: 18043827

Pancreatic carcinoid tumours are rare, particularly within the paediatric population. The clinical presentation is largely dependent on the functionality of the tumour. Although the tumour is generally slow-growing, surgical resection is still the mainstay of curative treatment. Morbidity is, however, significantly contributed by secretion of excess hormones; in view of this, biotherapy is an important treatment strategy. Octreotide, a somatostatin analogue, has been shown to be successful in both symptomatic control and stability of tumour progression. We report a 12-year-old girl, who presented with hypertensive crisis, and showed good response to a combination of chemotherapy and octreotide.

Matched MeSH terms: Biopsy, Needle
Fulltext Metastatic Adenocarcinoma of the Lung Mimicking Spinal Tuberculosis

Zamzuri, Z., Adham, S.Y., Shukrimi, A., Azril, M.A., Amran, R.

International Medical Journal Malaysia, 2011;10(2):33-35.
MyJurnal

Clinically, it is sometimes difﬁ cult to distinguish an infection of the spine from a metastasis. Spinal tuberculosis is common according to its endemic region and adenocarcinoma of the lung is also rising in the incidence worldwide. Similar presentations, with unknown primary, clinical ﬁ ndings and hematological investigations rarely conclude a true diagnosis. Radiologically, the hallmark of spinal infection is erosion of adjacent vertebral endplates and narrowing of the disc space with or without a paravertebral shadow. Metastasis typically does not involve the disc space with erosion of the adjacent vertebral endplates. It usually presents as a lytic/sclerotic lesion in the vertebral body or “winkle owl” sign. These distinguishing features of infection versus metastasis are not certainties. Biopsy is mandatory whenever in doubt or patient is not responded with provisional treatment. The author presents a case with so-called radiological features of spinal tuberculosis infection, which turns out to be a metastatic adenocarcinoma of the lung.

Matched MeSH terms: Biopsy
Fulltext The role of diagnostic fiberoptic bronchoscopy for rapid diagnosis of pulmonary tuberculosis

Zainudin BM, Wahab Sufarlan A, Rassip CN, Ruzana MA, Tay AM

Med J Malaysia, 1991 Dec;46(4):309-13.
PMID: 1840437

The role of fiberoptic bronchoscopy for rapid diagnosis of pulmonary tuberculosis was examined among 74 patients who were suspected of having the disease but had negative sputum smear for acid fast bacilli. Bronchial brushing and washing were routinely performed in all subjects and bronchial biopsy was performed on abnormal mucosa in 7 of them. The diagnosis of pulmonary tuberculosis was confirmed in 44.6% of the patients studied from smear examination, culture, histology or the combination of them. Rapid diagnosis was achieved in 54.5% of the confirmed cases from smear or histology within a few days of examination. Two of the cases had concomitant bronchogenic carcinoma. We conclude that the fiberoptic bronchoscopy is a useful investigation for this group of patients as confirmation of the diagnosis can be made fairly rapidly in a significant proportion of them, hence the treatment can be started confidently.

Matched MeSH terms: Biopsy
Combined cytological and histological diagnosis of hepatocellular carcinoma in ultrasonically guided fine needle biopsy specimens

Zainol H, Sumithran E

Histopathology, 1993 Jun;22(6):581-6.
PMID: 7689070

This study evaluates the usefulness of a combined cytological and histological approach to the diagnosis of hepatocellular carcinoma (HCC) when applied to fine needle biopsy specimens obtained under ultrasonic guidance. The material, aspirated from 51 focal liver lesions, was handled in such a way that there was sufficient material for both cytological and histological (cell block) assessment. Of the 29 cases of HCC studied, a confident cytological diagnosis was made in 23 (79%). In the remaining six cases, the cytological features were considered to be suspicious but not diagnostic of HCC. Examination of cell blocks in the six cases enabled a confident diagnosis of HCC to be made in all cases. This was due to the supplementary visual information provided by the histological features, particularly the pattern of arrangement of the tumour cells.

Matched MeSH terms: Biopsy, Needle/methods
Fulltext Glomerulonephritis in Kelantan, Malaysia: a review of the histological pattern

Zainal D, Riduan A, Ismail AM, Norhayati O

Southeast Asian J. Trop. Med. Public Health, 1995 Mar;26(1):149-53.
PMID: 8525403

Renal biopsy is essential in the management of renal parenchymal diseases. Thus far there is no publish report on the pattern of glomerulonephritis in Kelantan. We decided to establish the pattern of glomerulonephritis in Kelantan and use this information as our reference in future studies. Records of patients who had proven glomerulonephritis histologically were analysed. Their biological data, clinical presentation, etiology and clinicopathological pattern were studied. Where appropriate mean and standard deviation were calculated. A total of 74 biopsies were performed during the study period (between January 1991 and December 1993), out of which 72 biopsies (97.3%) were considered suitable for analysis. The male to female ratio was 1:1.1. Mean age at presentation was 27.6 +/- 12.2 years. Nephrotic syndrome was the commonest clinical presentation (65.3%). The main underlying cause was systemic lupus erythematosus (50%) followed by primary glomerulonephritis. Histologically, IgA nephropathy and minimal change disease were the main patterns among patients with primary glomerulonephritis while diffuse proliferative glomerulonephritis was the commonest pattern among patients with lupus nephritis. Hence the pattern of glomerulonephritis is similar to other reported series. The procedure is considered safe and has a high success rate.

Matched MeSH terms: Biopsy
Fulltext Cryptococcal osteomyelitis of the femur: a case report and review of literature

Zainal AI, Wong SL, Pan KL, Wong OL, Tzar MN

Trop Biomed, 2011 Aug;28(2):444-9.
PMID: 22041767 MyJurnal

Fungal osteomyelitis is a rare opportunistic infection. It exhibits some clinical and radiological similarities to several other bone pathologies. A diagnostic delay may result in significant increase in morbidity. We report a case of a 37-year-old man with underlying hypogammaglobulinaemia presented with isolated cryptococcal osteomyelitis of the femur.

Matched MeSH terms: Biopsy
Fulltext A review of epidemiological studies of oral cancer and precancer in Malaysia

Zain, R.B., Ghazali, N.

Ann Dent, 2001;8(1):-.
MyJurnal

This paper attempts to review epidemiological studies of oral cancer and precancer in Malaysia. The defmitions of prevalence, incidence, risk habits and oral cancer and precancers were discussed to better understand' the different types of studies conducted, which would be important in making comparisons between studies. Currently, epidemiological data on oral cancer in Malaysia are sketchy. The only incidence data for oral cancer in Malaysia was reported by Hirayama in 1966, 35 years ago. He estimated that 3.1 new cases per 100,000 population were diagnosed for the year 1963. A number of histopathological data of oral and maxillofacial biopsies were reported. Oral cancer accounted for one-fifth of all oral biopsies. A national study on oral mucosal lesions in Malaysia carried out in 1993/4 reported that there was a variation seen in the occurrence of oral premalignancy among the ethnic groups. The Indians and the indigenous people of Sabah and Sarawak were identified as high risk groups for oral cancer and precancer. It was also observed that both of the ethnic groups chewed betel quid. In conclusion, the epidemiological studies have provided useful data, which may be used in planning for future oral health programmes and research towards enhancing Malaysia's on-going effort in preventing the occurrence of these diseases.

Matched MeSH terms: Biopsy
Fulltext Use of simple scoring systems for a public health approach in the management of non-alcoholic fatty liver disease patients

Zain SM, Tan HL, Mohamed Z, Chan WK, Mahadeva S, Basu RC, et al.

JGH Open, 2020 Dec;4(6):1155-1161.
PMID: 33319051 DOI: 10.1002/jgh3.12414

Background and Aim: Advanced fibrosis is the most important predictor of liver-related mortality in non-alcoholic fatty liver disease (NAFLD). The aim of this study was to compare the diagnostic performance of noninvasive scoring systems in identifying advanced fibrosis in a Malaysian NAFLD cohort and propose a simplified strategy for the management of NAFLD in a primary care setting.
Methods: We enrolled and reviewed 122 biopsy-proven NAFLD patients. Advanced fibrosis was defined as fibrosis stages 3-4. Noninvasive assessments included aspartate aminotransferase/alanine aminotransferase (AST/ALT) ratio, AST-to-platelet ratio index (APRI), AST/ALT ratio, diabetes (BARD) score, fibrosis-4 (FIB-4) score, and NAFLD fibrosis score.
Results: FIB-4 score had the highest area under the receiver operating characteristic curve (AUROC) and negative predictive value (NPV) of 0.86 and 94.3%, respectively, for the diagnosis of advanced fibrosis. FIB-4 score

Matched MeSH terms: Biopsy
Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study

Zaifullah S, Yunus MR, See GB

Eur Arch Otorhinolaryngol, 2013 Mar;270(4):1501-6.
PMID: 23053382 DOI: 10.1007/s00405-012-2200-7

Branchial cleft anomalies result from abnormal persistence of branchial apparatus, which is located at the lateral part of the neck. These occur due to failure of obliteration of the branchial apparatus during embryonic development. Differential diagnoses of lateral neck mass are salivary gland or neurogenic neoplasms, paragangliomas, adenopathies, cystic hygroma or cystic metastasis from squamous cell carcinoma or thyroid papillary carcinoma. Clinically, a branchial cyst is smooth, round, fluctuant and non-tender, and usually occurs over the upper part of the neck, anterior to the sternocleidomastoid muscle. Sometimes, it may present as infected cyst (or abscess), a sinus or fistula. Surgical excision is the definitive treatment for branchial anomalies. The objective of the work was to study the demographic data, clinical presentation, definite diagnostic workup and treatment of patients diagnosed with branchial anomalies. This is a retrospective study of 26 patients who were diagnosed with branchial anomalies (branchial cyst and fistula), of which only 12 patients had data available between July 1999 and June 2009 at the Otorhinolaryngology, Head and Neck Surgery, Universiti Kebangsaan Malaysia Medical Centre. Twelve cases of branchial anomalies were seen, in which 10 patients had second branchial cyst anomalies, 1 had third branchial fistula and 1 had bilateral branchial lesion. There were seven females and five males. The age of the patients varied over a wide range (4-44 years), but the majority of the patients were in their second and third decade of life. All branchial anomalies occurred at the classical site; eight patients had left-sided neck lesion. Correct clinical diagnosis was made only in five patients (41.6 %). All patients underwent surgical excision with no reported recurrence. Branchial anomalies are frequently forgotten in the differential diagnosis of lateral neck swelling. Diagnosis is usually delayed, leading to improper treatment. The diagnosis of patients who present with lateral neck cystic swelling with or without episodes of recurrent neck abscess should be considered with a high suspicion for branchial anomalies. FNA cytology is a good investigative tool in reaching toward a diagnosis of branchial lesion, with the concurrent assistance of radiological modalities. Surgical excision is the gold standard treatment of lesions of branchial anomalies.

Matched MeSH terms: Biopsy, Fine-Needle
Fulltext Isolated Bilateral Pinna Swelling: A Rare Initial Presentation of Leprosy

Yusuf SYM, Ismail IA, Hamid RA, Jamil NA, Yasin MM

Open Access Maced J Med Sci, 2019 Jun 15;7(11):1815-1817.
PMID: 31316665 DOI: 10.3889/oamjms.2019.481

BACKGROUND: Leprosy or Hansen disease is a chronic infectious disease that causes social stigma due to its deforming bodily appearance and physical disability. It has a wide spectrum of presentation affecting diagnosis.
CASE REPORT: A 21-year-old man who presented with chronic isolated bilateral pinna swelling as a result of leprosy is reported. The bilateral pinna swelling started as multiple shiny papules with an erythematous background and progressively became hyperpigmented and lobular over two years. This rare presentation of leprosy poses initial diagnostic difficulties, leading to misdiagnoses by various health care professionals. Diagnoses ascribed include eczema, insect bite and perichondritis. A suspicion of leprosy was raised when hyperaesthetic hypopigmentation of skin started to appear on the body after two years, with worsening of the pinna swellings. This was confirmed by identification of Mycobacterium leprae in slit skin smear test and skin biopsy.
CONCLUSION: Isolated involvement of pinna in a patient without lesions in other body parts is an unusual initial presentation of leprosy. However, leprosy should be kept as a rare differential diagnosis of isolated lesions on the ear in patients not responding to conventional treatment.

Matched MeSH terms: Biopsy
Thoracic sarcoma case series in Hospital Kuala Lumpur, Malaysia

Yurkdes AS, Narasimman S

Med J Malaysia, 2019 Jun;74(3):237-239.
PMID: 31256182

Thoracic sarcomas (TS) are rare neoplasms that may present with non-specific pulmonary symptoms. Chest radiographs and computed tomography of the thorax are the investigations of choice, while pre-operative minimally invasive biopsies may not be entirely helpful with the diagnosis. The commonly identified variants of thoracic sarcomas include liposarcomas, leiomyosarcomas and synovial sarcomas. Complete excision of the tumour with clear margins remain the sole definite form of management and there is limited role with adjuvant chemotherapy and radiotherapy. In the present case series, we explore our experience with three patients who presented with TS and the management decisions that was made.

Matched MeSH terms: Biopsy
Fulltext Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, et al.

Intractable Rare Dis Res, 2021 May;10(2):114-121.
PMID: 33996357 DOI: 10.5582/irdr.2020.03143

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family.

Matched MeSH terms: Biopsy
Fulltext Sézary syndrome in a Malay--case report and literature review

Yuen P, Chan HL, Lee YS

Singapore Med J, 2001 May;42(5):224-7.
PMID: 11513062

Sézary syndrome is a rare form of primary cutaneous T cell lymphoma. It is a distinct systemic variant of mycosis fungoides, marked by erythroderma, lymphadenopathy and circulating cerebriform lymphocytes in the peripheral blood. We report a case of Sézary syndrome in a 61-year-old Malay man with a five-year history of indurated plaques, ulcers and tumours on the head and trunk, with characteristic findings on physical examination, skin biopsy, electron microscopy, immunophenotyping and peripheral blood film. A literature review on Sézary syndrome is presented.

Matched MeSH terms: Biopsy
Picture of the month. Subcutaneous fat necrosis of the newborn

Yuen NS, Ibrahim SB

Arch Pediatr Adolesc Med, 2011 Jun;165(6):563-4.
PMID: 21646590 DOI: 10.1001/archpediatrics.2011.80-a
Matched MeSH terms: Biopsy, Needle
The prevalence of Helicobacter pylori in patients with oesophageal stenosis

Ylmaz Ö, Temur A, Almal N, Dülger AC, Sasmaz MI

Trop Biomed, 2018 Dec 01;35(4):1148-1153.
PMID: 33601862

Oesophageal strictures often occur following esophagectomy which is performed for cases of oesophageal cancer. These patients require repeated dilation procedures. The aim of this study is to investigate the effects of dietary regimens, which are changed because of stenosis, caused by Helicobacter pylori (H. pylori). In this retrospective study, 28 patients who had operation for oesophageal cancer and underwent dilation due to development of stricture were studied. 30 female and 30 male patients who were admitted to the Gastroenterology Clinic with complaints of dyspepsia and did not receive treatment for the eradication of H. pylori were randomly selected and included in this study as a control group. Patients' histopathological records on the hemogram, biochemistry, and endoscopic biopsy were analysed. There were 26 H. pylori (+) cases (92.8 %) in the stenosis group consisting of 28 patients, and 37 H. pylori (+) cases (61.6%) in the control group consisting of 60 patients. These results were found to be statistically significant (P=0.003). The albumin level in the stenosis group was reported to be statistically low (P=0.002). The incidence of H. pylori was found to be significantly higher in patients with stenosis. We ascribed this outcome due to changes in dietary regimens. Our findings showed that the dietary regimens of all patients who underwent esophagectomy should be regulated during the postoperative period considering H. pylori. The relationship between H. pylori and stenosis was significant, there is a need for further research with a larger sample size to enrich the findings.

Matched MeSH terms: Biopsy

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