Pyoderma Gangrenosum: A Challenging Cutaneous Manifestation in Dubowitz Syndrome.

Pyoderma gangrenosum (PG) is a challenging cutaneous manifestation associated with Dubowitz syndrome, a rare genetic disorder characterized by multiple congenital anomalies, developmental delay, and distinctive facial features. This review article aims to provide a comprehensive overview of the association between Dubowitz syndrome and pyoderma gangrenosum, emphasizing the clinical presentation, challenges in diagnosis and management, and potential underlying mechanisms. A comprehensive literature search was conducted to gather relevant studies, and inclusion and exclusion criteria were applied to select appropriate articles. The association between Dubowitz syndrome and pyoderma gangrenosum has been documented in reported cases and studies. Clinical characteristics of Pyoderma gangrenosum in Dubowitz syndrome include painful necrotic ulcers with undermined borders. Diagnosing pyoderma gangrenosum in the context of Dubowitz syndrome can be challenging due to the overlapping clinical features and complexities associated with the syndrome. Managing pyoderma gangrenosum involves a multidisciplinary approach, with general principles of wound care, systemic therapy, and pain management. Specific considerations for treating pyoderma gangrenosum in Dubowitz syndrome include collaboration among specialists and careful monitoring. Future directions for management include further research to understand the underlying mechanisms and develop targeted therapies. Recognizing and addressing pyoderma gangrenosum in Dubowitz syndrome is crucial for optimal patient care. This review enhances awareness among healthcare professionals and provides insights for improving diagnosis, management, and treatment outcomes for individuals with this challenging combination of conditions.

Neurodevelopmental Assessment in Children With Congenital Heart Disease by Applying the Denver Developmental Screening Test 2: A Prospective Cross-Sectional Study.

Background Congenital heart conditions often cause developmental delays and impact neurodevelopment throughout one's lifetime. Hence, it is crucial to analyze the impact that heart defects have on the developing brain of a child. The present cross-sectional study was undertaken given the paucity of studies on the developmental status in children with congenital heart diseases (CHDs) in central India, where we tried to evaluate and compare the prevalence of neurodevelopmental delay in individuals with different congenital cardiac disorders. The objectives of our study were, firstly, to utilize the Denver Developmental Screening Test 2 (DDST-2) to evaluate the neurodevelopmental conditions in children with CHD; secondly, to compare the neurodevelopmental state of children with acyanotic CHD (ACHD) and cyanotic CHD (CCHD); and thirdly, to ascertain the prevalence of developmental delay in children with CHD. Methodology The study population comprised children aged six months to six years with two-dimensional (2D) echocardiography confirmation of CHD; those who were critically ill, had genetic syndromes, and were not willing to participate in the study were excluded. The neurodevelopmental assessment was conducted using the DDST-2. The screening looked at each patient's progress in four areas: personal-social, fine motor-adaptive, language, and gross motor. Based on these observations, results were obtained and interpreted. Result Out of 82 children with CHD, the prevalence rate of developmental delay according to the DDST-2 was found to be maximum in the gross motor domain and the least affected in the social domain, which was similar to the analysis of developmental delay by developmental quotient (DQ). The comparative analysis of developmental delay in ACHD and CCHD according to the DDST-2 showed a significant P value only in the gross motor domain. Conclusion The DDST-2 is a straightforward screening tool for determining how well-developed infants with CHD are. The gross motor domain is the most frequently damaged in ACHD and CCHD, followed by the fine motor domain, and the social domain is the least affected. Cyanotic CHD patients are more susceptible to developmental delay than children with ACHD.

A Case Report on Copper Beaten Skull Appearance: A Forgotten Entity.

An uncommon autosomal dominant condition known as Crouzon's syndrome causes abnormalities of the skull and face. It accounts for 4.8% of all cases of craniosynostosis and is by far the most prevalent condition among them. The fibroblast growth factor receptor-2 (FGFR-2) gene mutation that leads to early suture line closure is the basis for the development of Crouzon's syndrome. It appears as a copper-beaten skull on radiographs, which may indicate a disruption of the brain's normal growth due to elevated intracranial pressure. This report describes a case of a four-year-old kid who exhibits the typical symptoms of Crouzon's syndrome like craniosynostosis, hypertelorism, and flattened nasal bridge. We also make an effort to investigate the connection between Crouzon syndrome and the emergence of a copper-beaten skull and related factors.

Bilateral Phyllodes in a 12-Year-Old Adolescent: Report of a Rare Case.

Phyllodes tumors, previously known as cystosarcoma phyllodes, are fibroepithelial tumors that consist of epithelial and cellular stromal components. These tumors have a predilection to recur after wide local excision and to attain massive sizes. They account for less than 0.5% of cases of all breast neoplasms and are primarily found in the third to fourth decade of life, and rarely in adolescence. However, less than 25 cases are reported to date wherein this tumor is found in adolescent females, with this case being one of those. This is a report of a rare case of a 12-year-old premenarchal female with bilateral phyllodes tumor, highlighting its peculiarities, diagnostic features, and surgical management in view of the patient's age and quality of life.

Atypical haemolytic uremic syndrome with posterior reversible encephalopathy syndrome in an adolescent: a rare case report.

Atypical hemolytic uremic syndrome (aHUS) is a group of disorders that affect kidneys which is rare type of HUS that differs from classical hemolytic uremic syndrome (HUS) by absence of prodromal phase consisting of episodes of diarrhoea due to preceding shiga toxin E. coli (STEC-HUS) infection and is 5% of all HUS cases. Approximately 50% cases present with clinical triad of hemolytic anemia, thrombocytopenia and renal insufficiency. However, it can have unusual clinical features in form of central nervous system involvement. This case, of a 15-year-old Indian boy, is one such rare presentation of atypical haemolytic uremic syndrome associated with posterior reversible encephalopathy syndrome (PRES), or reversible posterior leukoencephalopathy syndrome (RPLS) who presented with anaemia, anasarca, papilledema, hypertension, episodic seizures and significant magnetic resonance imaging (MRI) brain findings. We report this uncommon combination of two syndromes to provide useful insight for clinicians to approach and diagnose such presentation in paediatric patients.