An Unusual Presentation of Neurotized Congenital Giant Melanocytic Nevus and Type 1 Neurofibromatosis: A Diagnostic Challenge

@#Among the three subtypes of neurofibromatosis are type 1 and 2 neurofibromatosis and schwannomatosis, von Recklinghausen disease also known as type 1 neurofibromatosis has an autosomal dominant inheritance. It is the commonest form as and presents with numerous café-au-lait macules and neurofibromas. Giant congenital melanocytic nevus (CGMN) on the other hand is characterized by a melanocytic proliferation that present at birth. CGMN develops due to a defective embryonic pigment cell (melanocyte) precursors development and are often present at birth. Giant congenital melanocytic nevus (CGMN) and type 1 neurofibromatosis may occur together rarely. Clinicians should be aware of the rare presentation of both CGMN and type 1 neurofibromatosis in a patient.

A Case Report of Pityriasis Lichenoides-Like Mycosis Fungoides in Children: A Challenging Diagnosis / 가정의학회지

Primary cutaneous lymphomas are rare diseases among the general population, and even rarer in children. Mycosis fungoides (MF) is the most commonly diagnosed form in childhood. Several atypical clinical variants of MF have been reported, and pityriasis lichenoides-like MF (PL-like MF) is a recently described subtype. We report about a rare case of PL-like MF in an 11-year-old Malay boy with a 2-year history of multiple scaly erythematous papules associated with progressive and generalized hypopigmentation. This case report illustrates the significant dilemma in the diagnosis of the disease, particularly in the early stages, because its symptoms can mimic those of many common childhood inflammatory skin disorders. Later, the widespread hypopigmentation obscured the characteristic lesions, leading to misdiagnosis. Moreover, due to unfamiliarity of the disease, the diagnosis of PL-like MF was missed and delayed until only 2 years after the onset of the dermatosis. Therefore, primary care practitioners must have a high index of suspicion for this cutaneous neoplasm in children with persistent or worsening skin lesions, not responding to standard therapy, to ensure timely referral, diagnosis, and treatment.

Diagnostic Pitfall in Fine Needle Aspiration Cytology of Pilomatrixoma with Unusual Clinical Presentation

@#Pilomatrixoma (PMX) is a benign skin adnexal tumour with matrical differentiation. It frequently presents as a painless and slow growing solitary skin nodule primarily at the head, face and neck regions. Although there is increasing understanding on the clinical presentations and morphological features of PMX, difficulties are still expected in establishing the clinical and cytological diagnosis. We report a young girl who presented with a painless post-auricular swelling for one year with sudden increased in size. Computed Tomography (CT) scan and fine needle aspiration cytology (FNAC) findings were suggestive of a malignancy. Diagnosis of PMX was established and confirmed by tissue histopathological examination. The purpose of this study is to demonstrate the diagnostic pitfall of PMX in FNAC specimens, especially in patients with unusual clinical presentations.

A Case Report of Pityriasis Lichenoides-Like Mycosis Fungoides in Children: A Challenging Diagnosis / 가정의학회지

Primary cutaneous lymphomas are rare diseases among the general population, and even rarer in children. Mycosis fungoides (MF) is the most commonly diagnosed form in childhood. Several atypical clinical variants of MF have been reported, and pityriasis lichenoides-like MF (PL-like MF) is a recently described subtype. We report about a rare case of PL-like MF in an 11-year-old Malay boy with a 2-year history of multiple scaly erythematous papules associated with progressive and generalized hypopigmentation. This case report illustrates the significant dilemma in the diagnosis of the disease, particularly in the early stages, because its symptoms can mimic those of many common childhood inflammatory skin disorders. Later, the widespread hypopigmentation obscured the characteristic lesions, leading to misdiagnosis. Moreover, due to unfamiliarity of the disease, the diagnosis of PL-like MF was missed and delayed until only 2 years after the onset of the dermatosis. Therefore, primary care practitioners must have a high index of suspicion for this cutaneous neoplasm in children with persistent or worsening skin lesions, not responding to standard therapy, to ensure timely referral, diagnosis, and treatment.

Correlation of E-Cadherin Expression with Clinicopathological Parameters and Its Outcomes among Prostate Cancer Patients in Hospital Kuala Lumpur

@#Introduction: Aberrant expression of E-cadherin has shown to have correlation with advanced disease of prostate cancer. In this study, we evaluated the potential of E-cadherin as a prostate cancer prognostic marker and determined its correlation with patient outcomes. Method: 46 prostate cancer specimens in the form of paraffin-embedded tissue blocks were retrieved from the Histopathology Unit, Department of Pathology, Hospital Kuala Lumpur. The expression patterns of E-cadherin were determined by immunohistochemistry staining. The E-cadherin expression was evaluated and scored as positive (3+) and negative or loss of expression (2+ and 1+). The correlations of E-cadherin expression with patient outcomes which included biochemical failure, disease-free, metastasis and local recurrence were determined. Correlations of E-cadherin expression with the currently used traditional clinicopathological parameters were also evaluated. Results: There were significant correlations between E-cadherin expression with biochemical failure (p=0.005) and local recurrence (p=0.003). However, there were no significant correlations between E-cadherin expression with disease-free (p=0.864) and tumour metastasis (p=0.430). Comparing the correlation of E-cadherin expression with the traditional clinicopathological parameters, there were significant correlations between E-cadherin expression with pathological staging (p=0.001), Gleason score (p=0.004) and perineural invasion (p=0.001). However, there was no significant correlation between E-cadherin expression with positive tumour margin (p=0.320). Conclusion: These results support the potential use of E-cadherin as a prognostic tool for prostate cancer as well as an additional marker along the currently available traditional clinicopathological parameters.

Paraneoplastic Bullous Pemphigoid Masquerading as Hand-foot Syndrome: A Case Report of Rare Entity

@#Bullous pemphigoid (BP) is a chronic and the most frequent immune-mediated subepidermal blistering disorder which mainly affects elderly individuals. The autoantibodies produced following T-cell dysregulation are directed against BP180 (BPAg2) and BP230 (BPAg1), hemidesmosomal proteins located in the basement membrane zone (BMZ) of the epidermis. BP may present with polymorphic dermatological features including non-bullous manifestations and blisters. Therefore, a wide range of differential diagnoses such as eczema, urticaria, pemphigus and the differentials for subepidermal blister with eosinophils such as epidermolysis bullosa acquisita (EBA) and bullous drug eruptions should be considered in such cases. The associations of solid organ internal malignancies and BP are quite rare and vary between studies. Here, we present a case of paraneoplastic bullous pemphigoid (PNBP) in a patient with underlying renal cell carcinoma who was initially diagnosed with worsening hand-foot syndrome (HFS) which has led to withdrawal of his oral chemotherapy treatment.

Molecular Detection of Cryptococcus from Formalin-fixed Paraffin-embedded Tissue Sample - A Noncultural Approach for Diagnosis of Primary Pulmonary Cryptococcosis

@#Despite pulmonary cryptococcosis showing good response to antifungal treatment, making accurate diagnosis in a timely manner remains a challenge. Tissue for fungal culture is less sensitive, nonspecific, and time-consuming to allow for prompt diagnosis. We herein report a case of 31-year-old woman with no known medical illness but presented with history of cough and haemoptysis for two months. The chest X-ray and bronchoscopy revealed left lung mass. While tuberculosis showed negative result and no growth observed in the tissue culture, the histopathological examination (HPE) finding was suggestive of fungal infection. The formalin-fixed paraffin-embedded (FFPE) tissue was sent for molecular testing, which revealed Cryptococcus neoformans. This report emphasises on the advantages and limitations of polymerase chain reaction (PCR) as an alternative method to confirm the diagnosis in cases of culture-negative fungal infection.

Endocrine mucin-producing sweat gland carcinoma - newly described skin appendageal tumours

@#Introduction: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a recently described adnexal tumour with a predilection for the face particularly the eye-lids. Considered to be a precursor lesion of mucinous adenocarcinoma, it may represent part of a morphological spectrum. We described a case of this entity, which we believe is the first case to be reported in Malaysia. Case report: A 59-year-old Chinese male presented with a slow-growing cystic lesion over the left lower lateral canthal region. The lesion became progressively larger and nodular within the last 6 months. Histologically, the lesion is a well-circumscribed intradermal tumour with pushing borders extending into the subcutaneous tissue. The tumour cells were arranged in lobules of solid, papillary and cribriform architecture. The cells displayed uniform, medium-sized, round to oval nuclei with stippled chromatin pattern and ample eosinophilic granular cytoplasm. Intracellular mucin (as highlighted by mucicarmine stain) was observed in areas with focal extracellular mucin seen. Mitotic figures were not particularly impressive. By immunohistochemistry study, the tumour cells expressed ER, PR, CK7, GCDFP-15, mammaglobin and EMA diffusely. Chromogranin A and synaptophysin highlighted a significant number of tumour cells. Discussion: The morphology and immunohistochemical profile similarities between EMPSGC and solid papillary carcinoma of the breast (SPCOTB) makes the former considered as the cutaneous analogue of the latter. In fact, one should rule out the possibility of metastatic SPCOTB before considering the diagnosis of EMPSGC.

Hypertension in the absence of urinary abnormalities - An unusual presentation of anaphylactoid purpura

@#Henoch-Schonlein Purpura (HSP) or anaphylactoid purpura, currently named IgA vasculitis is the most common form of systemic vasculitis in children. In adults and young infants, HSP tends to have atypical presentations with higher rates of severe gastrointestinal problems and delayed renal complications. While hypertension is a known complication of HSP nephritis, it is rarely seen in individuals with normal renal function and urinary findings. We report a case of a 7-year-old boy with HSP, who presented with abdominal pain and severe hypertension without other features of glomerulonephritis.

Intradermal Naevi of External Auditory Canal: Unusual location with a unique presentation

The incidence of intradermal nevus in the externalauditory canal is uncommon. We herein are describing acase of 60-year-old lady who presented with foreign bodysensation in the right external ear canal (EAC) with milddiscomfort and ear bleed during ear picking. Otoscopicexamination revealed hyperpigmented mass on the floorof the outer two third of EAC. Complete excisional biopsyof the mass resulted in histopathology findings ofintradermal nevus. Despite the fact that the disease is notalarming, the possibilities of benign melanocytic nevitransformation into malignant lesions such as melanomaneed to be ruled out.

Lipoma Arborescens of the Knee: A Case Report of Rare Entity

@#Lipoma arborescens is a non-neoplastic, reactive condition due to chronic synovial inflammation and irritation, characterized by frond-like or villous proliferation of mature adipose tissue covered by hyperplastic synovium. The knee is the most commonly affected site particularly the suprapatellar pouch. We report a case of lipoma arborescens affecting the right knee of an elderly Chinese gentleman associated with bilateral knee and hand osteoarthritis. He presented with progressive worsening of right knee swelling and pain. Partial synovectomy of the right knee was performed and no lesion recurrence was noted at one year post-operation. The clinical and imaging findings, pathological features, together with differential diagnoses were discussed.