Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report.

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder caused by a mutation in the ANTXR2 gene encoding a transmembranous protein involved in endothelial development. The ANTXR2 (also known as CMG2) locus is on chromosome 4q21. ISH is a common disorder in children of consanguineous parents in Arab countries. Symptoms of ISH manifest within the first months of life as progressive painful joint contractures and edema, hyperpigmentation of the skin, cutaneous nodules, persistent diarrhea with protein-losing enteropathy, and recurrent infections. Children affected by ISH often die undiagnosed in infancy. Histopathologic examination shows hyaline deposits in the skin, skeletal muscles, cardiac muscle, lymph nodes, adrenal glands, gastrointestinal tract, thyroid, and spleen. Hyaline deposits are the result of leakage of plasma components to the perivascular space owing to defective endothelial morphogenesis. ISH manifests most often in the facial region. Patients develop hypertrophy of labial and buccal tissues and massive gingival overgrowths, which impair oral food intake and maintenance of satisfactory oral hygiene. The differential diagnosis of ISH should consider juvenile systemic hyalinosis (an allelic variant of ISH), Winchester syndrome, systemic fibromatosis, stiff skin syndrome, lipoid proteinosis, mucopolysaccharidosis, sphingolipidosis, and mucolipidosis. This report describes a case of massive labial and gingival hypertrophy in a 6-year-old boy with ISH.

Adrenocortical carcinoma - 12-year observation period in a single centre. Case report with literature review.

BACKGROUND: Adrenocortical carcinoma (ACC) accounts for 0.2% of childhood malignancies. The most common symptom in children is rapidly progressive androgenization. Herein, we report a case of a patient with symptoms of hypercortisolaemia and androgenization, who was diagnosed with ACC. CASE PRESENTATION: In a 10-year-old patient with ACC the course of the disease was complicated by 3 recurrences. She was treated with surgery, chemo-, and radiotherapy. Currently, 8 years after the end of treatment, there have been no signs of recurrence. CONCLUSIONS: A patient after ACC treatment requires regular check-ups and long-term observation. Constant supervision enables early diagnosis of disease recurrence, and the use of treatment improves the prognosis.

Diagnosis and treatment of thyroid cancer in adult patients - Recommendations of Polish Scientific Societies and the National Oncological Strategy. 2022 Update [Diagnostyka i leczenie raka tarczycy u chorych doroslych - Rekomendacje Polskich Towarzystw Naukowych oraz Narodowej Strategii Onkologicznej. Aktualizacja na rok 2022].

The guidelines Thyroid Cancer 2022 are prepared based on previous Polish recommendations updated in 2018. They consider international guidelines - American Thyroid Association (ATA) 2015 and National Comprehensive Cancer Network (NCCN); however, they are adapted according to the ADAPTE process. The strength of the recommendations and the quality of the scientific evidence are assessed according to the GRADE system and the ATA 2015 and NCCN recommendations. The core of the changes made in the Polish recommendations is the inclusion of international guidelines and the results of those scientific studies that have already proven themselves prospectively. These extensions allow de-escalation of the therapeutic management in low-risk thyroid carcinoma, i.e., enabling active surveillance in papillary microcarcinoma to be chosen alternatively to minimally invasive techniques after agreeing on such management with the patient. Further extensions allow the use of thyroid lobectomy with the isthmus (hemithyroidectomy) in low-risk cancer up to 2 cm in diameter, modification of the indications for postoperative radioiodine treatment toward personalized approach, and clarification of the criteria used during postoperative L-thyroxine treatment. At the same time, the criteria for the preoperative differential diagnosis of nodular goiter in terms of ultrasonography and fine-needle aspiration biopsy have been clarified, and the rules for the histopathological examination of postoperative thyroid material have been updated. New, updated rules for monitoring patients after treatment are also presented. The updated recommendations focus on ensuring the best possible quality of life after thyroid cancer treatment while maintaining the good efficacy of this treatment.

Perianal abscess and fistula-in-ano in children - evaluation of treatment efficacy. Is it possible to avoid recurrence?

INTRODUCTION: Perianal abscess and fistula-in-ano are common findings in infants and children. The perianal abscess is usually a manifestation of a fistula-in-ano. Experience of our center indicates general lack of knowledge of the origin of the abscess and therefore, it is usually treated by incision and drainage, which leads to repeated recurrences. AIM: We aimed to present the optimal management of fistula-in-ano and perianal abscess in order to reduce or even eliminate the risk of recurrence. MATERIAL AND METHODS: The retrospective study included 24 infants with perianal abscess treated at our center between 2013 and 2015. Patients were divided into two groups: group I (50%) was primary treated in our center, while group II had undergone prior surgical interventions in other hospitals. Fistula-in-ano was intraoperatively identified in all patients (100%) and fistulotomy was performed. RESULTS: No fecal incontinence or recurrence of perianal abscess were observed in any of our patients. In group II, the disorder was associated with severe inflammation, some patients underwent an additional surgical intervention, such as incision and drainage of an extensive buttock's abscess; patients required longer antibiotic therapy and prolonged hospitalization. CONCLUSION: Minimally invasive approach (sitz baths, antibiotic therapy, puncture or incision and drainage of the abscess) appears tempting due to its simplicity and lack of need for general anesthesia, but it is associated with a high recurrence rate. Fistulotomy and fistulectomy, which are slightly more invasive procedures, significantly reduce the recurrence rate of fistulain- ano and perianal abscess.

Expression of zinc transporter 8 in thyroid tissues from patients with immune and non-immune thyroid diseases.

INTRODUCTION: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes. MATERIALS AND METHODS: We studied the expression of ZnT8 transporter in thyroid tissues from patients with immune and non-immune thyroid diseases. The study was performed in thyroid tissues after thyroidectomy from patients with thyroid non-toxic nodular goitre (NTNG; n = 17, mean age 15.8 ± 2.2 years) and cases with Graves' disease (n = 20, mean age 15.6 ± 2.8). In our study we investigated the expression of ZnT8 in human thyroid tissues from patients with immune and non-immune thyroid diseases using immunohistochemistry, Western Blot as well as immunofluorescence analyses. To the best of our knowledge, this is the first investigation which identified ZnT8 protein expression in human thyroid tissues, moreover, confirmed by three different laboratory techniques. Results and Conclusions Expression of ZnT8 transporter was identified by immunohistochemistry in the thyroid tissues from paediatric patients with Graves' disease (on +++) and non-toxic nodular goitre (on ++). ZnT8 transporter expression was found both in thyroid follicular cells (within the cytoplasm and cytoplasmic membrane in follicular cells) and C cells (membrane-cytoplasmic reaction) in fluorescence. Predominant expression of ZnT8 in band 41 kDa in immune than in non-immune thyroid disorders may suggest potential role of ZnT8 as a new thyroid autoanitgen but it requires further study on a larger cohort.

Fibroblasts from normal skin of a tuberous sclerosis patient show upregulation of mTOR pathway.

Skin lesions are one of the characteristic features in tuberous sclerosis (TS), a neurocutaneous disorder caused by mutation of 1 of 2 tumor suppressor genes, encoding hamartin and tuberin. So far, however, studies on skin abnormalities present in TS patients are very few and do not contribute to the knowledge of the disease. In our current work, we cultured fibroblasts from healthy skin of a TS patient and evaluated upregulation of pathways found to be implicated in progression of TS tumors. We found that even healthy skin fibroblasts show upregulation of S6 ribosomal protein.

Virginal breast hypertrophy in a patient with Beckwith-Wiedemann syndrome.

Virginal breast hypertrophy is a multidisciplinary condition including surgical, pediatric, and endocrine/gynecological disciplines, and its successful diagnosis and management requires complex, team approach.

Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

BACKGROUND: Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. CASE PRESENTATION: A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values. CONCLUSIONS: A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.

Complications of umbilical vein catherisation. Case Report.

BACKGROUND: Umbilical vein catheterization is a relatively easy procedure performed routinely on the neonate intensive care units. It provides a fast central vein access, but some complications have been described in the literature. CASE REPORTS: We presented a case report of a premature infant (34 hbd) with extravasation of the parenteral nutrition and drugs to the liver after umbilical vein catheterization. Fever and increasing biochemical markers of infection were observed. USG revealed a heterogenic, well-limited space of 4 cm in diameter, located in the right lobe of the liver. CT excluded liver abscess. Considering neoplastic process or incorrect location of the catheter of the central vein, we performed liver biopsy. RESULTS: Cytological and biochemical analysis of the aspirated fluid revealed extravasation of parenteral nutrition to the liver. Our case confirms the necessity of controlling a proper location of the central catheter right after its insertion and during hospitalization.

[Guidelines for the use of special purposes central vein catheters (Broviac, Hickman and Gronshong): proposals for recommendations]. / Zalecenia dotyczace stosowania i obslugi ceników tunelizowanych z mankietem (typu Broviac, Hickman i Groshong) u noworodków i niemowlat - propozycje.

On the basis of literature search and own experiences as well as the current opinions of the Polish National Survey in Paediatric and Neonatal Intensive Care for indications and use of tunnelized catheters with a cuff, the authors present the guidelines for special purpose central vein catheters in the newborn and infants.

[Central venous catheters in children with cancer. Risk of complications. One centre experience]. / Centralne dostepy dozylne u dzieci z choroba nowotworowa. Ryzyko powiklan. Doswiadczenia jednego osrodka.

OBJECTIVE: To describe the incidence and type of central venous catheters (CVC) complications in children treated for solid tumours. MATERIAL AND METHODS: Between 1997-2005, 500 paediatric patients were treated for cancer. The CVC complications were analyzed according to the CVC type, blood product transfusion (BT) and parenteral nutrition (TPN). Chi-square test was used for statistics. RESULTS: For 566 surgically inserted CVCs: 147 (25.8%) were ports, 413 (73,6%) tunnelled catheters: Broviacs--227 (39.9%), Groshongs--186 (32.7%) and other--6 (1%). total number of CVC days was 288 944, (median: 422, range: 2-2583). 297 complications (rate of 1.02/1000 CVC days) were observed: 81 catheter infections (0.28), 77 mechanical complications (0.266), 59 no aspiration events (0.204), 52 thrombotic occlusions (0.179) and 28 tunnel infections (0.096). At the end of the study period 121 (28%) CVCs were prematurely removed due to: infection (52), mechanical cause (49), thrombotic occlusion (14), no aspiration (6). Mechanical complications in catheters comparing to ports were more frequent (p= 0.007). There were more infections in Broviacs than Groshongs catheters (p=0.022) and in children receiving BT and TPN (p=0.046 and 0.003). CONCLUSIONS: CVC's related complications were relatively rare. Most common were infections and concerned catheters and these complications were most frequent in patients receiving BP and TPN. Risk of mechanical complications was higher in catheters than ports.

[Tumours in newborns and infants up to three months of life. One institution experience]. / Guzy u noworodków i malych niemowlat. Doswiadczenia wlasne.

INTRODUCTION: Newborns and infants up to three months of life are a specific group of population in paediatric oncology due to immaturity of tissues and organs and rarity of neoplastic diseases in this group of patients (pts). There are no strict therapeutic procedures established for these children. THE AIM of our study was to examine distribution of tumours in newborns and infants up to 3 months of age treated in our institution and to present our own experience in the treatment of these patients. MATERIAL AND METHODS: Medical records of 71 pts (37 boys and 34 girls) treated from 1996 to 2004 were reviewed. Distribution of tumour types in newborns and babies from 1 to 3 months of age was analyzed separately. Due to similar growth pattern, response to treatment and it's side effects in newborns and small infants, treatment results were evaluated for the whole group. RESULTS: there were 50 newborns. The most common diagnosis in this group was germ cell tumours (GCT) which constituted 60% of all tumours, amongst them 52% were mature teratomas (MT). The second most common was neuroblastoma (NBL) 22%. There were also 3 cases of soft tissue sarcomas (STS), 2 central nervous system tumours (CNS), 2 retinoblastoma (RB), 2 hepatoblastoma (HB). In the group of 21 babies aged 1-3 months NBL was the commonest (37%) followed by RB, CNS tumours (14% of each) HB and MT (10% of each) and Wilms tumour (WT) and immature teratoma (IT) each 5%. Surgery alone was performed in 48 pts. It concerned pts with MT--28, IT--3 pts, yolk sac tumour (YST)--1 pt and malignant tumours (stage I and II): 8-NBL, 2-CNS tumours, 2 STS, 3-HB, 1-WT. Forty two pts from this group are alive. Six pts died: 2 from surgical complications, 1 from sepsis, 1 of congenital heart defect and 1 from unknown reason at the age of 18 months. It was a patient with severe infantile cerebral palsy. One pt died of disease--relapse of yolk sac tumour, 2 years 4 months after surgery of MT. Eleven pts underwent combined treatment of chemotherapy and surgery: 5 with stage III and IV NBL, 6 with other tumours. One pt with STS at the age of 1 yr 6 months was the tumour bed irradiated after surgery for microscopic tumour residual. Four pts are alive, 4 with NBL and 5 with other tumours. Two pts died from disease: one with NBL and one with IT. Chemotherapy alone was administered to 7 pts in whom local advancement of disease enabled surgery and to pts with RBL. Three out of 7 pts are alive all with RBL. Four pts died: 3 from disease, 1 from infectious complications. Four pts with NBL (2 stage IV and 2 stage IVS) were treated with irradiation to the liver only. Two pts (st. IV) died and 2 (st. IVS) pts are alive. One pt relapsed at age of 2 yrs 3 mths, probably at the primary site which was not visualized at primary diagnosis. One pt, critically ill, died before any treatment. Fifty six out of 70 pts (80%) are alive with a follow up from 1 year to 9 yrs 11 months (median- 4 yrs 4 months). Fourteen pts died (20%), 8 from disease and 6 of other reasons. CONCLUSIONS: 1. GCT and neuroblastoma are the most common tumours in newborns and infants up to 3 months of age. 2. Newborns and small infants with advanced neoplastic disease, similarly to older children can be cured with chemotherapy. 3. Individual approach is warranted in newborns and small infants and treatment should be carried out in specialized centres. 4. All patients who completed treatment of any tumour type should be followed up by a pediatric oncologist.

[Diagnosis and treatment of thyroid cancer in children in the multicenter analysis in Poland for PPGGL]. / Diagnostyka i leczenie raka tarczycy u dzieci w Polscew analizie wieloosrodkowej dla PPGGL.

INTRODUCTION: Differentiated thyroid carcinoma (DTC) in children presents different biological behavior in comparison to adults. Authors presents preliminary results of multicenter analysis concerning incidence, diagnostics and treatment of DTC in children. MATERIAL AND METHODS: The study is a retrospective analysis of 107 pediatric patients from 14 academic centers based on the data from 2000 to 2005 obtained by questionnaire in hospitals involved in the treatment of DTC in children. RESULTS: Papillary thyroid cancer was diagnosed in 83 children, follicular thyroid cancer in 10 children and medullary thyroid cancer in 14 children. Incidence of DTC in children was estimated between 18 and 23 cases per year. The biggest group of patients consisted of children between 11 and 15 years of age, with girls to boys ratio 3.3 : 1. Clinically DTC in children presented most often as solitary thyroid nodule. Cervical lymphadenopathy was observed in 42% of patients. Intraoperative verification indicated metastatic nodes in 50% of children. Low stage DTC predominated (T1 in 36% and T2 in 26% of children). One step surgery was performed in 65% of children with DTC, two step surgery in 25% of patients. I131 therapy was undertaken in 80% of children. Lung metastases were indicated in post therapeutic studies in 14% of children with DTC. Prophylactic thyroidectomies were performed in 79% of children in the group of patients with MTC and RET gene mutations. CONCLUSIONS: The necessity of introduction of unified therapeutic standard in children with DTC in Poland is underlined.