The aetiology of the ocular lesions associated with onchocerciasis

A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.

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Xeroderma pigmentosum and acute myeloid leukemia: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02969-1 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

H. Bencharef ◽

M. Lamchahab ◽

D. Dassouli ◽

S. Sraidi ◽

B. Guennoun ◽

...

Keyword(s):

Case Report ◽

Xeroderma Pigmentosum ◽

Acute Myeloblastic Leukemia ◽

Ultraviolet Rays ◽

Complex Karyotype ◽

Inherited Disease ◽

Monosomy 7 ◽

Ocular Lesions ◽

Moroccan Women ◽

Low Dose Cytarabine

Abstract Background Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood. These manifestations are often associated with ocular lesions and sometimes with neurological disorders. The association of xeroderma pigmentosum with internal neoplasms such as acute myeloblastic leukemia is not reported with great frequency, which confirms the rarity of this occurrence. Case report A 26-year-old Moroccan women, xeroderma pigmentosum patient, was diagnosed with acute myeloblastic leukemia with a complex karyotype. Due to the adverse risk of the xeroderma pigmentosum association with acute myeloblastic leukemia and the profile of acute myeloblastic leukemia with complex karyotype and monosomy 7, which constitute factors of poor prognosis, as well as the absence of studies conceding the tolerance of the chemotherapy by patients suffering from xeroderma pigmentosum, our patient was put under low-dose cytarabine protocol with granulocyte colony-stimulating factor. Unfortunately, she died on the tenth day of chemotherapy by acute pulmonary edema of cardiogenic pace complicated by tamponade. Conclusion According to reports, it is the second case showing association of xeroderma pigmentosum with acute myeloblastic leukemia. The management of these patients remains a challenge. Studies focusing on xeroderma pigmentosum patients developing hematological malignancies are necessary to better understand the most appropriate strategies and precautions for this specific case.

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Primary Gastric Melanoma – Is an Aggressive Strategy Worthwhile?

10.21203/rs.3.rs-423379/v1 ◽

2021 ◽

Author(s):

Rivi Haiat Factor ◽

Danny Hazan ◽

Jacob Frand ◽

Ronen Brenner ◽

Hananya Vaknine ◽

...

Keyword(s):

Case Series ◽

Sun Exposure ◽

Surgical Oncology ◽

Treatment Protocols ◽

Pathologic Evaluation ◽

Ocular Lesions ◽

Pet Ct ◽

Rare Malignancy ◽

Main Component ◽

Specific Symptoms

Abstract Background: Primary gastric melanoma (PGM) is a rare malignancy. Unlike skin melanoma which carries a definitive correlation to sun exposure, the pathogenesis of gastric melanoma is not well defined. It appears in the older age with median of 70 years and has no known risk factors. The diagnosis may be challenging due to non-specific symptoms, and endoscopy with tissue biopsy along with detailed physical examination ruling out skin and ocular lesions, and PET-CT, are the tools for establishing diagnosis. The prognosis for PGM is poor mainly due to late diagnosis. No detailed staging algorithm nor treatment protocols for PGM exists. Methods: A case series of all patients with PGM that were evaluated and managed by our surgical oncology service between 2011 and 2016. Data regarding diagnosis, imaging, pathologic evaluation and treatment protocols were collected and analyzed. Results: During study acquisition period, 3 cases with the diagnoses of PGM were identified. One patient was treated with aggressive surgery upfront, one patient was treated with more conservative surgical approach with delay from diagnosis to surgery, and one patient was not eligible for surgery due to age, medical and general condition. In 5 years of follow-up only the patient that had aggressive surgery survived. Conclusion: PGM carry very bad prognosis. We believe that aggressive surgery should be considered as the main component of the therapy plan without delay, for better clinical outcome and survival.

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