Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature.

Ehlers-Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique phenotypic and genetic variation. The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of their disease. The most common form, hypermobile type EDS (hEDS) and its variant, hypermobile spectrum disorder (HSD), are correlated with rheumatologic and inflammatory conditions. Evidence is still needed to determine the pathophysiology of hEDS; however, the association among these conditions and their prevalence in hEDS/HSD may be explained through consideration of persistent chronic inflammation contributing to a disruption of the connective tissue. Aberrant mast cell activation has been shown to play a role in disruption of connective tissue integrity through activity of its mediators including histamine and tryptase which affects multiple organ systems resulting in mast cell activation disorders (MCAD). The overlap of findings associated with MCAD and the immune-mediated and rheumatologic conditions in patients with hEDS/HSD may provide an explanation for the relationship among these conditions and the presence of chronic inflammatory processes in these patients. It is clear that a multidisciplinary approach is required for the treatment of patients with EDS. However, it is also important for clinicians to consider the summarized symptoms and MCAD-associated characteristics in patients with multiple complaints as possible manifestations of connective tissue disorders, in order to potentially aid in establishing an early diagnosis of EDS.

Treatment of Growth Hormone Deficiency via Daily Intravascular Injections in a Child with Bleeding Disorder.

OBJECTIVES: The standard of treatment for pediatric growth hormone deficiency (GHD) is daily subcutaneous recombinant human growth hormone (rhGH) injections. The efficacy of rhGH treatment given as daily intravenous (IV) boluses is not known. Case Presentation. A female with protein C deficiency, a severe bleeding disorder characterized by thrombosis formation, was diagnosed with GHD at age four years. She has been receiving daily protein C infusion through a permanent port since the newborn period. GHD was treated with daily IV rhGH boluses given through the port following protein C infusion. She has reached a growth rate of 12 cm/year and had no side effects. Surprisingly, serum insulin-like growth factor-1 (IGF1) levels did not rise despite an excellent clinical response. CONCLUSIONS: IV administration may be an alternative route for GHD treatment in eligible patients with permanent vascular access. A rise in serum IGF1 levels may not be needed to achieve the growth-promoting effect of rhGH.

Improvement of skin lesions in corticosteroid withdrawal-associated severe eczema by multicomponent traditional Chinese medicine therapy.

RATIONALE: We recently showed that multicomponent traditional Chinese medicine (TCM) therapy had steroid-sparing effects in moderate-to-severe eczema. We sought to evaluate TCM effects in severe eczema in a 7-year-old male with refractory disease and corticosteroid withdrawal syndrome. METHODS: Prior to referral, the patient had been treated since infancy with increasingly intensive standard of care, including high-dose topical and systemic corticosteroid and antibiotic therapy and was unable to tolerate further steroid treatment. The patient was administered a combination of oral and topical TCM for 17 months following discontinuation of his steroid regimen. His overall medical condition was assessed by SCORAD criteria and laboratory evaluations of serum IgE, absolute eosinophil count, and liver and kidney function tests. RESULTS: The patient showed rapid improvement of clinical measures of disease after starting TCM therapy, with marked improvement of sleep quality within the first week, complete resolution of itching, oozing, and erythema at 2 weeks, and a 79% and 99% decrease in his SCORAD values after one month and 3-6 months of TCM, respectively. Serum total IgE decreased by 75% (from 19,000 to 4630 (kIU/L), and absolute eosinophil counts decreased by 60% (from 1000 to 427 cells/µL) after 12 months of treatment. The patient did not require oral or topical steroids during the 17-month trial of TCM. TCM was tapered without complications. His dermatologic manifestations continued to be well-controlled 3 months after discontinuation. CONCLUSION: This case study suggests TCM should be further evaluated in controlled clinical studies of patients with severe, refractory eczema and steroid withdrawal syndrome.