Ischemia-Modified Albumin-A Potential New Marker of Oxidative Stress in Dermatological Diseases.

There is growing evidence that oxidative stress is involved in the pathogenesis of numerous conditions, including dermatological diseases. Various markers are available to assess oxidative stress, but none of these can be considered the ideal marker. Recent studies have shown that ischemia-modified albumin (IMA) is not only an indicator of ischemia, but also a marker of oxidative stress. We have conducted a narrative review to evaluate the role of IMA in dermatological diseases. We have identified 24 original articles that evaluated IMA in skin disorders (psoriasis, acne vulgaris, hidradenitis suppurativa, urticaria, vitiligo and Behcet's disease) and hair disorders (alopecia areata, androgenetic alopecia and telogen effluvium). The results of the studies analyzed reveal that IMA may be considered a new marker of oxidative stress in dermatological diseases and offer new insights into the pathogenesis of these disorders and the theoretical basis for the development of new, effective, targeted therapies. To the best of our knowledge, this is the first review that gathers up data on the role of IMA in dermatological diseases.

Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS - 4.07), a bone age of 4.5 years, and she shows no response to the GH stimulation tests. According to a previous report of an identical case, catch-up growth will occur after beginning GH treatment. We believe that GH stimulation tests should be performed on patients with TRPS1 exhibiting a growth velocity below the normal range expected for their age and sex. If the result is subnormal, then GH therapy should be attempted.

Thyroid function testing in primary care: overused and under-evidenced? A study examining which clinical features correspond to an abnormal thyroid function result.

BACKGROUND AND AIM: Diagnostic testing is increasing in primary care, including for thyroid disease. This study examined which clinical features were associated with an abnormal thyroid stimulating hormone (TSH) result. DESIGN AND SETTING: This was a cross-sectional study in one general practice of 16,487 patients in Exeter, Devon, UK. METHODS: We examined the primary care records relating to every TSH test taken in the year from August 2012, and extracted symptoms and/or the indication for testing. Associations with an abnormal result were tested using multivariable logistic regression. A cohort study was then performed of 100 patients newly recorded with each of the six features associated with an abnormal test result in the cross-sectional study, and the proportions tested for TSH and the results of that testing identified. RESULTS: Two thousand thirty-five patients (12% of the practice population) had TSH testing in the year. Of these 35 (1.7%) had a TSH >4.5 mIU/l, suggesting hypothyroidism, and 7 (0.3%) had TSH <0.01 mIu/l suggesting hyperthyroidism. Features associated with an abnormal TSH were: pregnancy, odds ratio 41 (95% confidence interval 9.3-180), constipation 9.7 (2.1-45), palpitations 23 (3.4-150), hair loss, 21 (2.0-230), weight gain, 18 (1.6-190) and diarrhoea, 13 (1.2-130); in separate analyses only pregnancy and constipation were associated with a raised TSH, and the remaining four features with a low TSH. CONCLUSION: The diagnostic yield of thyroid disease in this study was 2.1% suggests testing could be better targeted without missing diagnoses. The symptoms associated with thyroid disease differ from those generally reported. This may represent fewer patients presenting with advanced disease.

Deficiency of humoral immunity in cartilage-hair hypoplasia.

OBJECTIVE: Cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia, is usually associated with impaired cellular immunity. This study evaluates humoral immunity in patients with CHH. METHODS: The concentrations of immunoglobulins G, A, and M (IgG, IgA, and IgM) and IgG subclasses were studied in 20 patients. Data for 5 additional patients with recurrent infections were retrospectively reviewed. RESULTS: Seven of the prospectively evaluated patients (35%) had defective humoral immunity. Three patients had IgA deficiency. Four patients had IgG2 deficiency, accompanied by IgA deficiency, IgG4 deficiency, or both in 3 patients. IgG4 was low in most patients. Increased infections were usually associated with supranormal IgG and IgG1 and subnormal IgA, IgG2, or IgG4 concentrations. One retrospectively reviewed patient had severe hypogammaglobulinemia, and 3 had multiple IgG subclass deficiencies. CONCLUSIONS: Humoral immunity is impaired in CHH and contributes to the increased susceptibility to infections.

Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.

The association of two rare hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), was found in four patients from three families, apparently unrelated but living in the same geographical area. In order to test the hypothesis of a common ancestor, consanguinity within and among the families was checked using three different approaches: reconstruction of genealogical trees, typing of blood markers, and surname analysis. The results of the three types of analyses strengthen the hypothesis that, in at least two out of the three families, the genetic defect determining the TTD/XP phenotype is identical by descent, as a consequence of remote inbreeding. This implies that if two mutations are responsible for the two diseases they are at linked loci or affect the same gene.