Showing posts with label Rare. Show all posts
Showing posts with label Rare. Show all posts

Sunday, 13 July 2025

Umbilical Endometriosis, a Rare Clinical Entity: Case Report and Management in Port-Harcourt, Nigeria, Africa |Chapter 3 | Medicine and Medical Research: New Perspectives Vol. 3

 

Endometriosis is the presence of endometrial tissue outside the lining of the uterine cavity. It is a benign gynaecological disorder affecting about 5% of reproductive-age women. The aetiology is uncertain, but certain theories are postulated, like retrograde menstrual regurgitation of viable endometrial glands and tissue along the fallopian tubes and subsequent implantation on the pelvic peritoneal surfaces. These cells respond to hormones in a cyclical manner. Surgical procedures that breach the endometrium can inoculate other parts of the pelvis with endometrial tissue, there is also haematological spread. Cyclical bleeding from these deposits leads to inflammation, fibrosis, and adhesions. Umbilical endometriosis is the presence of an endometrial gland and stroma in the umbilicus. It is a rare site of occurrence. It is usually preceded by a history of pelvic surgery, as was found in this patient. The management usually involves a multidisciplinary team comprising the gynaecologist, the plastic surgeon, the colorectal surgeon, Fertility and Pain management teams. This was the case of a 33-year-old nullipara, who had abdominal myomectomy 5 years prior to presentation. She noticed bleeding and pain from her umbilicus one year ago. Bleeding was cyclical, associated with her menses, and was bright red in colour. The umbilicus eventually produced a tender-feeling, hyperpigmented exophytic mass. There was a laparotomy, intraperitoneal adhesiolysis, and total removal of the umbilical tumour. She experienced no pain during her first menstruation following surgery, and the repaired umbilical location was free of haemorrhage. She will be sent to the fertility team when she is prepared to begin a family.

 

The significance of this study is that every clinician, especially gynaecologists should have a high index of suspicion of endometriosis when a young woman presents with bleeding from unusual sites.

 

Author(s) Details

Iwo-Amah R. S.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Jumbo A. I.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Altraide B. O. A.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Okah K.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Lebara L. B.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Amachree P. T.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

Briggs N. N.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

Wadi I.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Ndii L. D.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Weje F. C.
Department of Obstetrics and Gynaecology, Rivers State University Teaching Hospital, Port-Harcourt, Nigeria.

 

Please see the book here:- https://doi.org/10.9734/bpi/mmrnp/v3/1278

Wednesday, 28 May 2025

Exploring Nevus Lipomatosis: Case Studies of a Rare Cutaneous Anomaly| Chapter 1 | Medicine and Medical Research: New Perspectives Vol. 9

 

Nevus lipomatosis cutaneous superficialis is a rare benign skin condition with an excellent prognosis following surgical excision. In this chapter, we present a case series of four instances of this uncommon anomaly to enhance awareness and recognition of the disease.

Author (s) Details

Monica Puri
ILBS Hospital, Vasant Kunj, New Delhi, India.

 

Neelam Gupta
Department of Pathology, M.M. Medical College and Hospital, Kumarhatti Solan, Himachal Pradesh, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/mmrnp/v9/2273

Thursday, 15 May 2025

Alobar Holoprosencephaly with Cyclopia: An In-Depth Exploration | Chapter 8 |Medicine and Medical Research: New Perspectives Vol. 12

Alobar holoprosencephaly (HPE) is a rare lethal congenital anomaly frequently accompanied by other malformations (such as cyclopia) and characterized by large variations in incidence. HPE is the most severe form of holoprosencephaly, a congenital brain malformation caused by incomplete division of the forebrain during early gestation. This results in a single, central brain ventricle, absence of the interhemispheric fissure, corpus callosum, olfactory structures, and non-separation of subcortical nuclei. Cyclopia, a rare and severe facial manifestation of alobar HPE, involves the merging of the eye orbits into a single central cavity, often with a proboscis, and is typically incompatible with life. The condition arises from genetic mutations (e.g., SHH, ZIC2, SIX3, TGIF1), chromosomal abnormalities (e.g., trisomy 13, trisomy 18), and environmental factors such as maternal diabetes, alcohol abuse, and teratogen exposure. Clinical features include severe neurological impairments, developmental delays, seizures, and facial abnormalities. Diagnosis relies on prenatal imaging (ultrasound, MRI) and genetic testing, with most cases resulting in stillbirth or early neonatal death.

Management is primarily supportive, focusing on symptom relief and palliative care. This chapter underscores the importance of early detection, prenatal counseling, and multidisciplinary care while advocating for further research into the genetic and environmental contributors to this rare condition to improve diagnostic, preventive, and therapeutic approaches.

The prognosis for infants with alobar holoprosencephaly and cyclopia is extremely poor, with most cases resulting in stillbirth or neonatal death. Survivors have profound neurological impairments and very limited life expectancy. The management of this condition is primarily supportive and palliative, focusing on alleviating symptoms, providing nutritional support, managing seizures, and ensuring comfort and quality of life.

This chapter emphasizes the need for early detection, prenatal counseling, and a multidisciplinary approach to managing alobar holoprosencephaly with cyclopia. By understanding the genetic, environmental, and clinical complexities of this condition, healthcare providers can better support affected families and explore potential avenues for early diagnosis, prevention, and improved care strategies. Despite advances in medical knowledge, the prognosis remains poor, highlighting the need for continued research into the underlying mechanisms and potential therapeutic interventions for this rare and devastating congenital anomaly.

 

Author (s) Details

Himani Malviya
Department of Obstetrics and Gynaecology, GSVM Medical College, Kanpur, Uttar Pradesh, India.

 

Bandana Sharma
Department of Obstetrics and Gynaecology, GSVM Medical College, Kanpur, Uttar Pradesh, India.

 

Rahul Ray
Department of Neurosurgery, SSB Multispecialty Hospital, Faridabad, Haryana, India.

 

Anchal Malik
Department of Obstetrics and Gynaecology, GSVM Medical College, Kanpur, Uttar Pradesh, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/mmrnp/v12/2236

Wednesday, 12 February 2025

A Distinctive Case Report Highlighting the Occurrence of a Rare Gigantic Adrenal Myelolipoma in a Patient with Sickle Cell Anaemia | Chapter 10 | Medical Science: Trends and Innovations Vol. 5

Adrenal myelolipomas (AMLs) are rare slow-growing non-malignant tumors that comprise both adipose and haematopoietic tissue and are caused by metaplasia of the reticuloendothelial cell. It is a type of incidentaloma which is an uncommon adrenal mass usually asymptomatic and identified during imaging investigation for reasons other than adrenal gland disorders. Myelolipomas vary in size but can be as large as 30 cm. These large myelolipomas can cause pressure on nearby structures resulting in clinical symptoms and signs.

This case report and literature review detail the diagnostic, medical and surgical management of a 14-year-old male with sickle cell anaemia who had a giant adrenal myelolipoma which was symptomatic. He had a one-week history of bilateral leg swelling and physical examination showed a mass in the right lumbar region. Abdominopelvic ultrasound revealed a suprarenal right-sided mass displacing the right kidney downwards. It was characterized as encapsulated, echo-complex, rounded and well-defined. The mass was also exerting pressure on the upper part of the kidney, and significantly compressing the inferior vena cava. A computed tomography (CT) scan revealed a large mass tenanting the right adrenal gland. He subsequently had an exploratory laparotomy with excision of the adrenal tumour. Immunohistochemistry analysis of the mass confirmed the diagnosis of an adrenal myelolipoma.

Conclusively, the diagnosis of an adrenal myelolipoma necessitates a high index of suspicion, a detailed medical history, a thorough physical examination, imaging studies and a meticulous histopathology investigation. Surgical intervention is the primary treatment method, while effective postoperative care ensures rapid recovery with minimal complications.

 

Author (s) Details

 

Udochikwuka Patience Ikejiaku
Department of Paediatrics, Federal Teaching Hospital, Owerri, Imo State, Nigeria.

 

Chidinma Adaobi Udah
Department of Paediatrics, Federal Teaching Hospital, Owerri, Imo State, Nigeria.

 

Johnpatrick Uchenna Ugwoegbu
Department of Radiology, Federal Teaching Hospital, Owerri, Imo State, Nigeria.

 

Emeka Nwolisa
Department of Paediatrics, Federal Teaching Hospital, Owerri, Imo State, Nigeria.

 

Uzoma Onwukwe
Department of Paediatrics, Federal Teaching Hospital, Owerri, Imo State, Nigeria.

 

Lilian Ezeuko
Department of Paediatrics, Federal Teaching Hospital, Owerri, Imo State, Nigeria.

 

Please see the book here:- https://doi.org/10.9734/bpi/msti/v5/4208

Sunday, 19 December 2021

Serpiginous Choroiditis: Journey of a Lesion & Its Complex Pharmacotherapeutic Approach | Chapter 2 | Current Aspects in Pharmaceutical Research and Development Vol. 6

 Serpiginous Choroiditis is an uncommon recurrent eye illness characterised by irregularly formed (serpiginous) lesions on two layers of the eye surface (the retinal pigment epithelium and the choriocapillaris). The diagnosis of this unusual condition is difficult enough, but the sophisticated pharmacotherapeutic method used to treat it, as demonstrated in the case report below, is even more difficult. It will assist in bringing to light the numerous treatment hurdles in order to open a window for improved treatment regimens and early diagnosis, while also keeping in mind the constant motivation and calm mind that a patient requires to tackle such a rare disease.


Author(S) Details

Amitrajit A. Pal
Grant Government Medical College & Sir JJ Group of Hospitals, Mumbai, India.

Abhijeet D. Joshi
Grant Government Medical College & Sir JJ Group of Hospitals, Mumbai, India.

View Book:- https://stm.bookpi.org/CAPRD-V6/article/view/5154

Thursday, 21 October 2021

Epithelioid Sarcoma of 3rd Toe: A Rare Case Report | Chapter 14 | Recent Developments in Medicine and Medical Research Vol. 2

 Epithelioid sarcoma is a rare, aggressive soft tissue sarcoma with a high rate of recurrence and metastasis locally. It is a tumour with an unknown histogenesis that can be difficult to diagnose because it is frequently misinterpreted as another benign or malignant illness. It usually appears as a subcutaneous or deep dermal tumour in the distal extremities of young people. We present the example of a 49-year-old man who has been complaining of pain and swelling on his right third toe for the past three months. An amputation of the toe was performed based on a clinicoradiological assessment that suggested cancer. Epithelioid sarcoma is suspected based on histopathological and immunohistochemical findings. For subsequent treatment, the patient was referred to an oncology centre, where he was instructed to undergo a broad excision followed by radiotherapy. There were no signs of regional or distant metastases.

Author (S) Details

Pooja Jain
Department of Pathology, Kasturba Medical College Manipal, Manipal, Karnataka, India.

Ranjini Kudwa
Department of Pathology, Kasturba Medical College Manipal, Manipal, Karnataka, India.


View Book :- https://stm.bookpi.org/RDMMR-V2/article/view/4285