Acral melanoma involve the non-pigmented palmoplantar and subungual areas and are commonly seen among Asians. Patients commonly display advanced stage of disease at presentation. It may appear unnoticed and mimic benign lesions.
BACKGROUND Trichoblastoma is a rare, benign, cutaneous adnexal neoplasm arising from rudimentary hair follicles. The incidence and prevalence in the general population is unknown. However, most cases occur in adults aged 40 years and older. CASE REPORT A 62-year-old woman presented to our primary care clinic for a hypertension and diabetes followup visit. The doctor, who had never seen the patient before, noticed several small lumps over the patient's eyebrows. After she removed her headscarf and face mask for a thorough examination, numerous skin-colored papules and nodules were seen on her nose, nasal bridge, forehead, and around her eyebrows. She was referred to a dermatologist, and a skin biopsy showed well-circumscribed dermal nests of basaloid cells, with peripheral palisading, and keratin horn cysts surrounded by dense fibrous stroma. These features were consistent with trichoblastoma. She was then referred to a plastic surgeon to discuss further management options. The patient finally chose laser ablation as she was fearful of the other more invasive surgical options. CONCLUSIONS This is a very rare case of extensive facial trichoblastoma. It highlights the need for clinicians to ensure optimal exposure when examining patients. It also highlights the role of biopsies for skin lesions of uncertain etiology. In this case, it helped to rule out basal cell carcinoma, which can be a more locally destructive condition than trichoblastoma. This case also serves as a reminder about the need for ongoing review and referral for further management for conditions for which previous treatment was unsuccessful.
Ceramide has transitioned from an incidental discovery to a vital element in skincare, becoming a thoroughly studied compound in the quest to treat skin conditions. Creating a moisture barrier, preserving hydration, regulating pH, controlling inflammation, and enhancing skin functions and appearance are among its established benefits. It is often used medically to repair skin barrier defects, as observed in inflammatory skin conditions like atopic dermatitis (AD) and dry skin types. Furthermore, ceramide and its metabolites are commonly used as predictors before disease manifestation and for prognostication processes, thus can be used as biomarker for clinical diagnosis as well. In the last couple of decades, momentum was also seen in the pre-clinical studies involving anti-cancer and nanotechnology field, whereby ceramide was also used as a drug, a carrier, or even adjunct formulation to increase efficacy of treatment such as chemotherapy. Approaches to increase ceramide levels include directly replenishing lost ceramides with natural extracts, synthetic pseudo-ceramides, or ceramide-like analogues, as well as using supplements that stimulate the body's natural ceramide production. Although ceramide is a well-known treatment in skincare and for common skin conditions like AD and psoriasis, its development and related pharmacology for severe skin conditions, such as skin cancer, remain in pre-clinical stages. Hence, the purpose of this research is to explore the role of ceramide in skin health and its application in common skin diseases.
Melanomas on the foot are difficult to differentiate from diabetic foot ulcers (DFU). In particular, acral lentiginous and amelanotic melanomas have a high chance of being misdiagnosed. We present two patients with diabetes mellitus and malignant melanomas of the foot initially diagnosed as DFU. Both cases were treated with wide excision amputation and local dissection, without adjuvant chemotherapy or radiotherapy. Both patients remain disease-free up to the last follow-up visit. It is important to maintain a high index of suspicion and a skin biopsy should be done in any DFU with atypical features.
Subcutaneous panniculitic T-cell lymphoma (SPTL) is a rare variant of cutaneous T-cell lymphoma where lymphoma cells infiltrate preferentially into subcutaneous tissue. Five cases of SPTL were seen during the period from 2001-2004 at the Department of Dermatology, Hospital Kuala Lumpur. All five presented with multiple subcutaneous nodules on the face, trunk and limbs of one week to six months duration with associated fever and loss of weight. Physical examination showed multiple tender, erythematous indurated plaques and subcutaneous nodules on their face, trunk and limbs. One patient also presented with unhealing ulcerated nodules. Two patients had hepatosplenomegaly and one hepatomegaly. Two patients had pancytopaenia while the other three had leucopaenia. One patient had deranged liver function. Out of the five patients, three had bone marrow examination with haemophaegocytosis in two and one hypocellular marrow. Skin biopsy of all patients showed infiltration with atypical lymphoid cells in the upper dermis and subcutaneous fat. These neoplastic cells showed positivity for CD3 and CD30 in three patients with CD8, TIA-1 and LCA (Leucocyte common antigen) being positive in one patient. One patient treated with prednisolone and subcutaneous Roferon 3Mu three times a week since 2001 was in remission. Two patients who were planned for chemotherapy had deteriorated rapidly and succumbed to septicaemia from pancytopaenia. Subcutaneous panniculitic T-cell lymphoma has been reported to show two distinct clinical presentations. The first is characterized by an indolent course with good prognosis and the second with rapid clinical deterioration, haemophaegocytosis and death. Both presentations were seen in our five patients seem to demonstrate these two subtypes of SPTL.
We report a case of a 55-year-old man who presented with a 6-month history of a fungating ulcer on the right hand at the site of a previously healed ulcer that had been present for 40 years. Histopathological examination of four-quadrant biopsy specimens showed a moderately differentiated squamous cell carcinoma (SCC). A transradiocarpal amputation with stump closure using radial flap was performed as it was not possible to achieve a functionally and cosmetically acceptable hand after a wide excision with 2 cm tumour-free margin. It is our intention to highlight this rare condition as reminder to consider this entity as a differential diagnosis of chronic non-healing skin ulcer.
Melanoma is a lethal skin cancer that occurs predominantly among Caucasians. In Malaysia, the incidence of melanoma is low. This is a retrospective study of clinical and histopathological features of patients with cutaneous melanoma who were seen at the University Malaya Medical Centre from 1998 to 2008. Thirty-two patients with cutaneous melanoma were recorded during that period. Of these, 24 had sought treatment at the onset of disease at our centre. Chinese patients constituted the largest group (19 cases). The median age of these 24 patients at the time of presentation was 62 years. 16 patients had melanoma involving the lower limb with 12 affecting the sole of the foot. None had melanoma arising from the face. Histopathology showed nodular melanoma in 22 cases (91.6%), with superficial spreading and acral lentiginous melanoma diagnosed in 1 case each. The majority of patients (62.5%) were found to be in Stage III of the disease at the time of diagnosis.
Dermatofibrosarcoma protuberans (DFSP) is a slowgrowing, locally invasive tumour of the dermis. It commonly presents in the trunks and proximal extremities but is seen to a lesser extent in the head and neck regions. We present a case report of a recurrent DFSP in a 48-year-old Iban woman at the occipital region. The patient underwent wide local excision and removal of outer table of cranium, dressing followed by split thickness skin graft. Histopathological examination confirmed dermatofibrosarcoma protuberans with clear lateral surgical margins and a deep margin of 0.5mm. She is currently undergoing radiotherapy and is planned for 50Grey 25cycles.
Basal cell carcinoma is the commonest skin malignancy diagnosed in Malaysia. Surgery is the recommended treatment of choice with the lowest failure rate provided a clear margin is obtained. However, the defect may be too large to be repaired primarily. Formal reconstruction using grafts and flaps should be done to achieve the optimal aim of maintaining the integrity, function and cosmetic patient outcome. Three reconstructive methods are described in this series to restore the facial defect following the wide local excision. The procedures described were peri-alar crescentic advancement flap, nasolabial rotational flap and full thickness skin graft using supraclavicular skin. This series highlights the usage of the procedures based on solid foundation and principles, without compromising the desired outcomes for the patient.
Malignant melanoma is a rare malignancy of the external auditory canal. The vast majority of them occur in the areas of the body that are exposed to the sun. Early histological examination may possibly favor better prognosis. We report a case of a 38-year-old female who presented with a small mass in right ear canal, earache and minimum discharge since 4 months. Initially scraping was done in the ENT clinic. Subsequently she had a wide excision done by the end aural approach at a different hospital. A year later the patient presented with a swelling involving the ear canal which extended to the helix and supratemporal region with the histology report as malignant melanoma. A literature review of the disease, radiological findings, immunohistochemical features and treatment options are discussed.
Myeloid sarcoma (MS) is a rare extramedullary myeloid tumour. It has been reported in various sites, including lymph node, bone, skin, soft tissue, various organs and the CNS. It may precede or occur concurrently with acute myeloid leukemia. Urinary bladder involvement is extremely uncommon. We report a 70-year-old female who had MS of the urinary bladder, presented with frank and persistent hematuria associated with lower abdominal pain. She subsequently had tumour seeding in the abdominal skin via percutaneous suprapubic catheter. Tumours from both the urinary bladder and skin showed immature cells that were immunoreactive toward LCA (focal), MPO (strong), CD99 (weak) and CD117 (weak). Summary of cases in the literature is presented. The potential of its misdiagnosis and the useful markers for the diagnosis of MS are discussed.
BACKGROUND: Pilomatrixoma (pilomatrixoma, calcifying epithelioma of Malherbe) is a relatively uncommon, benign neoplasm arising from the skin adnexa. The tumor can cause diagnostic difficulty not only for the clinician but also for the cytologist.
CASE: A 62-year-old woman presented with a right submandibular swelling of 4 months' duration. The clinical findings were highly suspicious for malignancy. A fine needle aspiration biopsy was performed. Three preliminary differential diagnoses were offered: mucoepidermoid carcinoma of the submandibular salivary gland, squamous cell carcinomatous deposit in a submandibular lymph node and calcifying odontogenic tumor. Computed tomography demonstrated no bony lesion. No primary site of squamous cell carcinoma could be identified. An excisional biopsy of the swelling was performed, and the histologic diagnosis of pilomatrixoma was made.
CONCLUSION: The cytologic presentation of pilomatrixoma of the right submandibular region can masquerade as that of a malignant tumor, in this case mucoepidermoid carcinoma, squamous cell carcinoma or odontogenic tumor. This case delineates the cytomorphologic features of pilomatrixoma that may mimic carcinoma.
An 86-year-old man presented with a painless, pea-sized growth over the left angle of his jaw, which had been gradually enlarging over two years. A clinical diagnosis of pilar cyst was made. Histopathological examination of the mass revealed a malignant proliferating trichilemmal tumour. During follow-up 4 months later, a palpable small upper jugular lymph node was noted at the left side of the neck. Biopsy revealed a metastatic malignant trichilemmal tumour. This case illustrates a rare malignant tumour which is a challenge to clinical diagnosis.
Multiple dermatofibromas is a rare entity consisting of more than fifteen lesions. Multiple clustered dermatofibroma is a distinct variant of multiple dermatofibromas and is defined as a well-demarcated plaque composed of individual dermatofibromas. We report a 16-year-old boy with multiple clustered dermatofibroma in a segmental distribution, which has previously not been reported in the literature.
Acute massive haemothorax is a life-threatening situation, which is often associated with a preceding trauma. However, spontaneous haemothorax is a rare occurrence, especially in pregnancy. Spontaneous haemothorax in the immediate post-partum period secondary to a ruptured intercostal AVM is extremely rare more so in the background of an undiagnosed neurofibromatosis. This is a report of a young lady presenting with pleuritis and breathlessness after the delivery of her 1st child. Her management is discussed.
The tumor suppressor gene p15(INK4b) is a cyclin-dependent kinase inhibitor, in which its inactivation has been determined in primary tumors and in several tumor-derived cell lines. The precise role of p15(INK4b) protein expression in cutaneous squamous cell carcinoma (SCC) is currently not known. In a previous study, we have shown the frequent occurrence of allelic imbalance/loss of heterozygosity in cutaneous SCC using two microsatellite markers flanking the p15(INK4b) gene. This study is a continuation of our previous study and aims to determine the possible role of p15(INK4b) protein expression in the genesis of cutaneous SCC. P15(INK4b) protein expression was determined using immunohistochemical approach in 107 cases of cutaneous SCC tissue arrays and 19 cases of normal human skin tissues. The expression of p15(INK4b) was significantly reduced in the cutaneous SCC cases as compared with normal human skin (p = 0.017 and p < 0.05). However, there were no significant relationship between clinicopathologic variables of the patients (age, sex and tumor grade) and p15(INK4b) protein expression. The absence of p15(INK4b) expression in the majority of tissue microarray cores of cutaneous SCC indicated that p15(INK4b) could possibly be involved in the pathogenesis of cutaneous SCC.
Germline genetic variants have been identified, which predispose individuals and families to develop melanoma. Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether there is a heritable genetic contribution to variation in tumor thickness. If confirmed, this will justify the search for specific genetic variants influencing tumor thickness. To address this, we estimated the proportion of variation in tumor thickness attributable to genome-wide genetic variation (variant-based heritability) using unrelated patients with measured primary cutaneous melanoma thickness. As a secondary analysis, we conducted a genome-wide association study (GWAS) of tumor thickness. The analyses utilized 10 604 individuals with primary cutaneous melanoma drawn from nine GWAS datasets from eight cohorts recruited from the general population, primary care and melanoma treatment centers. Following quality control and filtering to unrelated individuals with study phenotypes, 8125 patients were used in the primary analysis to test whether tumor thickness is heritable. An expanded set of 8505 individuals (47.6% female) were analyzed for the secondary GWAS meta-analysis. Analyses were adjusted for participant age, sex, cohort and ancestry. We found that 26.6% (SE 11.9%, P = 0.0128) of variation in tumor thickness is attributable to genome-wide genetic variation. While requiring replication, a chromosome 11 locus was associated (P