Multiple hamartoma syndrome with characteristic oral and cutaneous manifestations.

Case Rep Dent

Department of Oral Medicine and Radiology, MS Ramaiah Dental College and Hospital, Bangalore, Karnataka 560010, India.

Published: October 2013

AI Article Synopsis

  • The case highlights Cowden's syndrome, an inherited condition marked by multiple growths and a risk of various cancers, particularly in the breast and thyroid.
  • The 30-year-old female patient presented with oral growths and characteristic skin lesions, indicating the syndrome's mucocutaneous effects.
  • Emphasizes the critical need for ongoing cancer surveillance in Cowden syndrome patients due to their heightened malignancy risk.

Article Abstract

Aim. To present a case of Cowden's syndrome and emphasize the importance of continued cancer surveillance in these patients. Cowden syndrome is an inherited autosomal dominant trait with incomplete penetrance and a range of expressivity. It is characterized by multiple hamartomas and neoplasms. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here, we report a case of Cowdens syndrome of a 30-year-old female patient who came with a complaint of multiple growths in the oral cavity of a three-month duration. On examination, multiple skin-colored, flat-topped papules over her forehead and right malar bone and multiple papillomatous papules involving all the mucosal surfaces intraorally were observed. This syndrome is associated with the development of several types of malignancies, especially breast carcinoma and thyroid carcinoma, which is why early recognition and regular and vigilant surveillance of individuals with the syndrome are important.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787619PMC
http://dx.doi.org/10.1155/2013/315109DOI Listing

Publication Analysis

Top Keywords

syndrome
6
multiple
5
multiple hamartoma
4
hamartoma syndrome
4
syndrome characteristic
4
characteristic oral
4
oral cutaneous
4
cutaneous manifestations
4
manifestations aim
4
aim case
4

Similar Publications

How I Treat Higher-Risk MDS.

Blood

January 2025

H. Lee Moffitt Cancer Center, Tampa, Florida, United States.

Myelodysplastic syndromes/neoplasms (MDS) are a widely heterogenous group of myeloid malignancies characterized by morphologic dysplasia, a defective hematopoiesis, and recurrent genetic abnormalities. The original and revised International Prognostic Scoring Systems (IPSS) have been used to risk-stratify patients with MDS to guide treatment strategies. In higher-risk MDS, the therapeutic approach is geared toward delaying leukemic transformation and prolonging survival.

View Article and Find Full Text PDF

Anemia is a common consequence of myelofibrosis. The treatment of myelofibrosis-associated anemia is complicated by a multifactorial pathobiology, as well as a lack of therapies that result in normalization of the bone marrow and complete restoration of its function. Established agents that are used to treat anemia in other bone marrow failure states such as myelodysplastic syndromes and aplastic anemia, are used for the treatment of myelofibrosis-associated anemia.

View Article and Find Full Text PDF

The role of genetic sequencing in the diagnostic work-up for chronic immune thrombocytopenia.

Blood Adv

January 2025

Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London, United Kingdom, London, United Kingdom.

Immune Thrombocytopenia (ITP) is a heterogenous autoimmune disorder diagnosed by excluding other conditions. Misdiagnosis of primary ITP occurs in patients with inherited thrombocytopenia and primary immunodeficiency syndromes. This study investigates whether genetic testing for inherited thrombocytopenia or primary immunodeficiency can enhance diagnostic accuracy in ITP, and guide treatment strategies.

View Article and Find Full Text PDF

Background: Manual compartment palpation is used as a component of the clinical diagnosis of acute compartment syndrome (ACS), particularly in obtunded patients. However, its utility and accuracy in the upper limb are unknown. The purposes of this study were to assess the accuracy of manual compartment palpation of ACS in the forearm in a cadaveric model and to assess the role of clinician experience in this setting.

View Article and Find Full Text PDF

Background: During orthotopic liver transplantation, allograft reperfusion is a dynamic point in the operation and often requires vasoactive medications and blood transfusions. Normothermic machine perfusion (NMP) of liver allografts has emerged to increase the number of transplantable organs and may have utility during donation after circulatory death (DCD) liver transplantation in reducing transfusion burden and vasoactive medication requirements.

Methods: This is a single-center retrospective study involving 226 DCD liver transplant recipients who received an allograft transported with NMP (DCD-NMP group) or with static cold storage (DCD-SCS group).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!