Syndromic and Malformation Association in Hirschsprung’s Disease: A Case Series | Chapter 5 | An Overview of Disease and Health Research Vol. 1

Hirschsprung’s disease is a genetic disorder characterised by the absence of ganglion cells in different lengths of the intestine. It is one of the common causes of intestinal obstruction in neonates. The incidence of the disease ranges from 1 in 5000 to 1 in 10,000 across the world, but the Asian population has a slightly higher incidence of 2.8 in 10000. The vulnerability to Hirschsprung’s disease occurs due to the alteration of multiple genes which affect the signalling pathway of the RET receptor tyrosine kinase. In 70% of cases, Hirschsprung’s disease occurs as an isolated trait, and congenital anomalies are seen in 18% of cases, and in those patients, monogenic syndromes can also be seen. Malformation and neoplasm can be seen with this disease. Four cases of syndromic Hirschsprung’s disease from January 2017 to January 2020 in a Tertiary care hospital were treated. The biopsy specimens from spastic segment and colostomy or ileostomy sites were sent for evaluation of ganglion cells. Two different syndromes and one associated malformation and neoplasm were detected in patients of Hirschsprung’s disease during this 3-year case study. Chromosomal abnormality is seen in patients with Hirschsprung’s disease. The association of Hirschsprung’s disease and a variety of syndromes is rare. The incidence of Shah Waardenburg syndrome is 4 in 1 million. Moreover, approximately 1–2% of children with Down’s syndrome develop Hirschsprung’s disease, and 10% of patients with Hirschsprung’s disease have Down’s syndrome. As a result, Down’s syndrome accentuates the risk of developing the disease 50–100 fold compared to the general population (Heuckroth, 2015). Genetic mutation and somatic mutation play a role in the development of Hirschsprung’s disease in children. Clinical suspicion of Down’s syndrome and Shah Waardenburg Syndrome is the main clue to the diagnosis. In most cases of Shah Waardenburg Syndrome, total colonic aganglionosis was seen. In all these syndromic cases, counselling of the parents and genetic sequencing of patients and parents are desirable.

 

Author (s) Details

Biswanath Mukhopadhyay
Department of Pediatric Surgery, Apollo Multispeciality Hospital, Kolkata, West Bengal, India.

 

Mandira Seal
Department of Pathology, IPGME and R, Kolkata, West Bengal, India.

 

Chhanda Das
NRS Medical College, Kolkata, India.

 

Madhumita Mukhopadhyay
Pathology, JISMSR, Howrah and IPGMER, Kolkata, West Bengal, India.

 

Please see the book here:-  https://doi.org/10.9734/bpi/aodhr/v1/5457

Advances in Understanding and Treating Oral Malignant Melanoma: A Comprehensive Review | Chapter 10 | Recent Updates in Disease and Health Research Vol. 2

Primary oral melanoma is an exceptionally uncommon and aggressive tumor that emerges from the mucosal epithelium of the oral cavity, particularly in the upper jaw (palate or alveolar gingivae). Malignant melanoma originating outside the skin is an exceedingly rare condition and is recognized as one of the most lethal neoplasms in humans. Oral malignant melanoma (OMM) constitutes approximately 1% of all melanomas and accounts for roughly 0.5% of all oral malignancies. OMM has been documented in individuals aged 20 to 80 years, with a higher incidence in males. Due to the typically painless nature of mucosal melanotic lesions in their early stages, delayed identification and subsequent treatment contribute to a poorer prognosis.

Author(s) Details:

Priya Devi,
Oral Pathology and Microbiology, King George’s Medical University, Lucknow, Uttar Pradesh, India.

Sharon John,
Oral Pathology and Microbiology, King George’s Medical University, Lucknow, Uttar Pradesh, India.

Shalini Gupta,
Oral Pathology and Microbiology, King George’s Medical University, Lucknow, Uttar Pradesh, India.

Please see the link here: https://stm.bookpi.org/RUDHR-V2/article/view/13510

A Rare Case of Myoid Hamartoma Masquerading as Invasive Breast Carcinoma | Chapter 12 | Advancement and New Understanding in Medical Science Vol. 5

Breast Myoid Hamartoma (MH) is a rare type of neoplasm with a poorly understood pathogenesis. Very few literatures have reported such disease with an unclear prognosis and malignant potentiality. Some isolated studies have shown that breast Myoid Hamartoma (MH) may be genetically related to other types of tumours with the involvement of HMGA2 gene. We reported a case of a 64-year-old post-menopausal lady with an underlying chronic idiopathic axonal polyneuropathy (CIAP) that was referred to our centre for a suspected right breast tumour. Clinical and imaging proved the disease to be malignant, however, core biopsy results showed otherwise. Ultrasound of the right breast showed a solid mass with a hypoechoic heterogeneous echotexture and posterior shadowing. A Mammogram highlighted a dense lesion in the right breast with radiolucent halo and macrocalcification. It was reported as BIRADS 4 category. Managing breast Myoid Hamartoma (MH) is proved to be of great challenge to clinicians as meticulous clinical acumen is needed to strategize a proper plan and management, most importantly, not to overlook the disease as the malignant transformation has been reported before.

Author(s) Details:

Mohamed Shafi Mahboob Ali,
Department of General Surgery, Advanced Medical and Dental Institute (AMDI), Malaysia.

Please see the link here: https://stm.bookpi.org/ANUMS-V5/article/view/13341

Vaginal Leiomyoma with Degenerative Changes | Chapter 2 | Novel Research Aspects in Medicine and Medical Science Vol. 9

 Leiomyomas are prevalent benign tumors in the uterus. They are exceptionally seen in the vaginal wall chief to pressure symptoms on urinary area such as the vulva, utero-sacral ligament, inguinal canal, ovaries, and round bond. Only a few number of vaginal origin stringy cases have been reported in the biography. Vaginal leiomyomas are still a rare disorder, accompanying just 300 cases known to endure. The anterior vaginal wall is place these vaginal fibroids most frequently evolve, and they might show clinically in any of ways.  We report a case of vaginal lateral obstruction fibroid of 8 cm length and extending into paraurethral room. The vaginal mass was surgically excised and histopathology habitual the diagnosis of leiomyoma accompanying cartilaginous degeneration.

Author(s) Details:

Vineet Mishra,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Ahmedabad, Gujarat, India.

Smit Bharat Solanki,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Ahmedabad, Gujarat, India.

Please see the link here: https://stm.bookpi.org/NRAMMS-V9/article/view/12250