Chronic Lymphocytic Leukemia, T-Cell Large Granular Lymphocytic Leukemia in a Pediatric Patient without Underlying Condition

Background Large granular lymphocytic (LGL) leukemia is a rare hematological malignancy in children. The two types of LGL leukemia that have been described are T-cell and Natural Killer cell leukemia. It is most commonly diagnosed in older adults, average age of 60-year-old. About 20 cases of LGL leukemia have been reported in children and young adults. All the patients in the reported cases had immune dysregulation conditions, such as chronic graft versus host disease, common variable immunodeficiency disorder, Crohn's disease and autoimmune hemolytic anemia. Here we report a case of T-cell LGL leukemia in a 11-year-old boy without underlying condition who presented with chronic neutropenia associated with gingival hypertrophy, recurrent skin abscesses, aphthous ulcers, clubbing of nails and low bone density. Methods Multi-institution collaboration and literature review. Case Description 11-year-old male with two years history of episodic gum bleeding with gingival hypertrophy, skin abscesses, aphthous ulcers, chronic neutropenia and lymphocytosis presented to our clinic for further evaluation. Initial workup demonstrated moderate to severe neutropenia (absolute neutrophil count between 400/ul to 800/ul) with low segmented neutrophils of 2-4% and high lymphocytes of more than 80%, but normal white blood cell count, hemoglobin for age and platelet count. Peripheral blood smear showed several variant lymphocytes with cytoplasmic blebs and no immature cells present. Expansion of T-cell large granular lymphocytes were detected in peripheral blood by flow cytometry. Due to new symptom of lower back pain, a lumbar Magnetic Resonance Imaging was performed. Results showed low bone density with mild compression deformity of L1 and abnormal heterogeneous marrow signal with heterogeneous contrast enhancement. The abnormal bone marrow signal promoted the investigation of bone marrow aspiration and biopsy. Flow cytometry detected forty-five percent of lymphocytes with immuno-phenotype of CD3+, CD8+, CD57+, CD16+, CD7+ and CD5-. The morphology of minimal cytoplasm and mature chromatin along with immunophenotype were consistent with clonal T-cell large granular lymphocytic proliferation/leukemia. Further cytogenetic tests showed TCR gamma and beta genes rearrangement, STAT3 N647I mutation with normal male karyotype. A peripheral blood congenital neutropenia panel, which included a total of 18 genes, found a heterozygous mutation c 279 G>A in the Gata2 gene; a variant of uncertain significance. Next generation sequencing showed somatic mutations of TRGV10, TRGV8 TRGJ1, TNFAIP3 and STAT3. However, there was no germline mutations detected in sample from skin biopsy. Comprehensive evaluation by immunology, rheumatology and gastroenterology failed to detect any underlying conditions. Conclusion Due to rarity of LGL leukemia in pediatrics, standard of care guidelines are currently unavailable. Extrapolated from limited literature, two management options are considered: watch and wait approach versus early initiation of immunosuppressant chemotherapy. Improved diagnostics can aide management strategies in this patient population. Disclosures No relevant conflicts of interest to declare.

Changes in the contents of the oral flora, in gingival hypertrophy caused by fixed orthodontic appliances (Preprint)

BACKGROUND The placement of orthodontic apparatus in the oral cavity, according to the literature, should influence the alteration of oral flora, especially the subgingival one. The purpose of the study is to evaluate the subgingival flora of patients with fixed orthodontic appliances, regardless of placement time. OBJECTIVE The purpose of the study is to evaluate the subgingival flora of patients with fixed orthodontic appliances, regardless of placement time. METHODS In 3 cases of patients with fixed orthodontic appliances, a bacterial sample of the gingival sulcus was taken for laboratory examination. Patients were clinically evaluated for the presence or tendency, of having gingival hypertrophy. RESULTS Results from the 3 cases included in the study, 1 of them came up with Streptococcus Anginosus positive, Doxycilin-sensitive. The tendency for gingival hypertrophy was maximal 3% to 1.5% respectively in each patient. In the patient with different oral flora, daily topical treatment with tetracycline, placed in the gingival sulcus, was applied. CONCLUSIONS Alteration of the oral flora with the placement of fixed orthodontic appliances is not a fully verifiable fact, as it indicates the patient's follow-up, at the time of placement of the apparatus and until removal after orthodontic treatment, depending on the 2-3-year period of treatment. The tendency for gingival hypertrophy is apparently high, versus the presence of fixed orthodontic apparatus.

Assessment of oro-dental manifestations in a series of acromegalic patients, the AcroDent study

Objective: The dental and periodontal impact of GH/IGF-1 hypersecretion has been poorly investigated until now. Our aim is to precisely describe the oro-dental state of acromegalic patients and to study the impact of GH/IGF-1 hypersecretion on patients’ reported oral health-related quality of life (OHRQoL). Methods: After collecting characteristics of their disease, acromegalic patients answered the GOHAI questionnaire assessing their OHRQoL, the AcroQoL questionnaire and then benefited from a complete stomatological and radiological examination (orthopantomogram systematically, retro-alveolar radiography or Cone Beam CT if necessary). Results: In total, 29 patients aged 59.1 ± 16.0 years were included. The average DMFT index (sum of Decayed, Missing and Filled Teeth per patient) was 19.0 ± 7.8. 16/29 patients had a gingivitis and 18/29 a mild to moderate chronic periodontitis, but no case of severe chronic periodontitis was found, probably because the frequency of a protective thick gingival biotype was increased (9/29). No case of generalized gingival hypertrophy or diffuse hypercementosis was observed. According to the Add-GOHAI score, only 8/26 patients had a satisfactory OHRQoL. This parameter was correlated to the acromegaly-specific quality of life according to the AcroQoL score. Interestingly, 11/29 patients had bulky oral bony outgrowths (OBO), such as large maxillary or mandibular tori and multiple vestibular exostosis. Conclusions: The unsatisfactory OHRQoL reported by acromegalic patients contrasts with a rather good objective oro-dental state and annual oral examination seems relevant in this population. Finally, we report that huge OBO could be helpful signposts for the diagnosis of acromegaly.

Case Report: Hurler syndrome (Mucopolysaccharidosis Type 1) in a young female patient

Hurler syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism. Here, we present the case of a young female patient who presented with features of respiratory distress. In addition, the patient had gingival hypertrophy, spaced dentition, misaligned eruptive permanent dentition, microdontia, coarse facial features, low set ears, depressed nasal bridge, distended abdomen, pectus carinatum, umbilical hernia and J-shaped Sella Turcica on an X-ray of the skull. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made. The patient was kept on ventilator support from the third day; however, she died on the fifth day of admission. Enzyme replacement modality of treatment can increase a patient's survival rate if an early diagnosis can be made. To the best of our knowledge, only a few cases of Hurler syndrome have been reported in Pakistan.

Rashes associated with transplantations

Dermatological manifestations following transplantation are common but important to recognize and diagnose since they may be severe and life-threatening if not adequately and promptly treated. This chapter provides a systematic overview of the types of skin disease that may be encountered in children that have received a haematological or solid organ transplant. Complications relating to immunosuppression include an increased susceptibility to bacterial, viral, and fungal infections which may be significantly more virulent and hazardous in the context of reduced host immunity. Immune suppressant drugs may also cause drug rashes and aesthetic complications such as acne, hypertrichosis, or gingival hypertrophy, as well as longer-term risks from the development of malignancy. It is also important to recognize the range of mucocutaneous signs of acute and chronic graft versus host disease following bone marrow and solid organ transplantation which, again, may be severe and associated with significant morbidity and mortality.