Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and is more prevalent in the middle east due to higher rates of interfamilial marriages. Manifestations can be debilitating, and patients typically present with decreased joint mobility, gingival hypertrophy, nodular skin lesions, papulonodular skin lesions and osteolytic bone disease. JHF is a relatively mild presentation of the hyaline fibromatosis syndrome (HFS) family of diseases, with Infantile hyaline fibromatosis (IHF) being the more lethal form. A mutation of the (CMG2) gene on chromosome 4q21 is hypothesized to result in the abnormal deposition of amorphous hyaline substance in different body tissues. There are few studies that evaluated the role of surgery, corticosteroid therapy and physiotherapy or a combination of these modalities in providing symptomatic relief. In our paper, we present a literature review and case presentation for 28-year-old women with JHF, treated with surgical excision and corticosteroid therapy. Early surgical treatment provided instantaneous and more sustainable results, while corticosteroids can be used as alternative modalities with temporary outcomes.
Highlights
Cutaneous cystic lesion have wide clinical differentials.
A high index of suspicion should be maintained when any cutaneous lesion shows aggressive behavior.
A prompt investigation should be carried before surgical resection, and histopathology provides a final diagnosis.
We report a rare case of cystic poorly differentiated SCC of scalp operated as a sebaceous cyst.
Although obesity is a preventable disease, maintaining a normal body weight can be very challenging and difficult, which has led to a significant increase in the demand for surgical subcutaneous fat removal (SSFR) to improve physical appearance. The need for SSFR is further exacerbated because of the global rise in the number of bariatric surgeries, which is currently the single most durable intervention for mitigating obesity. Fat tissue is now recognized as a vital endocrine organ that produces several bioactive proteins. Thus, SSFR-mediated weight (fat) loss can potentially have significant metabolic effects; however, currently, there is no consensus on this issue. This review focuses on the metabolic sequelae after SSFR interventions for dealing with cosmetic body appearance. Data was extracted from existing systematic reviews and the diversity of possible metabolic changes after SSFR are reported along with gaps in the knowledge and future directions for research and practice. We conclude that there is a potential for metabolic sequelae after SSFR interventions and their clinical implications for the safety of the procedures as well as for our understanding of subcutaneous adipose tissue biology and insulin resistance are discussed.
Epithelioid sarcoma is a rare soft tissue sarcoma. It is a slow-growing neoplasm, which usually presents as a painless mass in the extremities and typically grows along deep dermal and subcutaneous planes. In contrast to other types of sarcoma, it has a strong tendency for nodal metastasis and local metastasis adjacent to the primary lesion within the affected limb.
In this article, we present a case of chronic traumatic ulcer in the upper extremity in an adolescent male that was subsequently diagnosed as epithelioid sarcoma, which is a very unusual mode of presentation of this particular tumour. The patient was treated with wide local excision and reconstruction with a free flap. Histopathological examination and immunochemistry studies confirmed the diagnosis and the patient underwent radiotherapy post-operatively as a part of the treatment regime. His post-treatment period was unremarkable, and he was put on regular surveillance to monitor the development of any signs of disease recurrence. Patients with epithelioid sarcomas often present late due to the slow-growing nature of the tumour. Unusual presentations like this will further delay the diagnosis and treatment, which will eventually worsen the prognosis. Awareness of such presentations can encourage primary care physicians to make early referrals to experts, which, in turn, may help the patients get early treatment and have a better prognosis.
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