Multisystemic Manifestations of Hyaline Fibromatosis Syndrome: Implications for Diagnosis and Management.

Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder characterized by the deposition of hyaline material in the skin, soft tissues, and bones. In this report, we discuss a case of a six-month-old male with HFS who presented with faltering growth, chronic diarrhea, multiple joint contractures, joint stiffness, hyperpigmented skin over bony prominences, gingival hypertrophy, patent foramen ovale, and symmetric periventricular hyperintensities on brain MRI. The diagnosis of HFS was confirmed by skin biopsy and genetic testing, which identified a homozygous mutation in the anthrax toxin receptor 2 (ANTXR2) gene. The patient was managed symptomatically with nutritional support, physiotherapy, analgesics, and regular dental care. He also received intralesional corticosteroid therapy, which significantly decreased the size of the skin nodules. His hyperpigmented skin and gingival hypertrophy remained stable, and the patent foramen ovale was managed conservatively. This case report highlights the importance of early diagnosis and management of HFS and the benefits of involving a multidisciplinary team to improve the quality of life of affected individuals.

Pediatric Crohn's Disease in Bahrain.

OBJECTIVES: Our study aimed to report the epidemiology, clinical presentations, diagnostic and therapeutic approaches, and outcomes of Crohn's disease (CD) in pediatric patients in Bahrain. METHODS: We conducted a retrospective review of the medical records of patients with CD diagnosed in the pediatric department, Salmaniya Medical Complex, Bahrain, between 1984 and 2017. We used the data to calculate the annual incidence and cumulative prevalence. Data about gender, nationality, clinical presentation, age at presentation and diagnosis, duration of illness, consanguinity, family history, contact with smokers, and comorbidities were gathered. Results of hematological, biochemical, and serological tests were also collected. All radiological, endoscopic, and histopathological findings were reviewed. Data about medical therapy, relapse episodes, hospital admissions, complications, and outcomes were collected. RESULTS: Of 108 pediatric patients diagnosed with inflammatory bowel disease (IBD), 51 (47.2%) patients had CD. The annual incidence was 1 in 100 000 per year (range = 0-5 patients/year) with significant rise on comparing the three decades (p = 0.0001). Prevalence was 9.32 patients per 100 000 pediatric populations. Thirty-four patients (66.7%) were males, and the median age was 18.5 years (range = 6.4-35.0). Common clinical presentations were recurrent abdominal pain and weight loss. Family history of IBD was found in 10 patients. One patient had positive antineutrophil cytoplasmic antibody. The terminal ileum was involved in 68.1%, colon in 63.8%, and perianal area in 17.0% patients. Biological therapy was used in five patients. Surgical intervention was required in six patients. The mean follow-up period was 9.2±5.6 years. CONCLUSIONS: The clinical characteristics of our population are comparable to that reported in neighboring countries and worldwide.