Classic Features (classic + feature)

Distribution by Scientific Domains

Selected Abstracts

Harlequin Ichthyosis in Association with Hypothyroidism and Juvenile Rheumatoid Arthritis

Yuin-Chew Chan M.D.
Two Chinese children, a 2-year-old boy and an 11-year-old girl, presented with these classic features as well as alopecia and loss of eyebrows and eyelashes. The boy was small for his age and was found to have hypothyroidism at the age of 18 months; he is currently on thyroxine replacement therapy. At 6 years of age, the girl developed symmetrical polyarthritis associated with positive rheumatoid factor and radiologic evidence of erosive arthritis, suggestive of juvenile rheumatoid arthritis. She received prednisolone, nonsteroidal anti-inflammatory drugs (NSAIDs), and subsequently methotrexate for her arthritis, with clinical and radiologic improvement. Early therapy with oral retinoids in both children accelerated shedding of the hyperkeratotic plates as well as improved ectropion and eclabium. There was no major adverse reaction to oral retinoids. The development of juvenile rheumatoid arthritis in survivors with harlequin ichthyosis has not been previously described. The use of prednisolone and NSAIDs in the girl did not affect the skin condition, but the addition of methotrexate led to a decrease in erythema. The association with autoimmune disease is probably coincidental. The psychosocial impact of this severe lifelong disease on the two families was enormous. Early retinoid therapy may improve the disorder and help increase survival rates. A multidisciplinary approach, including psychosocial support of the affected families, is vital in the management of this lifelong disease. [source]

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency

Tanja A. Gruber
Abstract:, OS has been described as a clinical phenotype in infants characterized by SCID, diffuse erythroderma, and other distinct features. The pathogenesis is secondary to autologous, auto-reactive T cells produced as rare escapees from the SCID blockade. Mutations in either the RAG1 or RAG2 gene that lead to partial recombinase activity are responsible for many of the patients with these clinical features. We report on two patients, one with an atypical phenotype of OS (absence of rash but presence of other typical features) who harbored a previously undescribed mutation in RAG1, and a second who had many of the classic features of OS but was found to have a mutation in the common gamma chain (,c) cytokine receptor gene. These cases highlight the clinical and genetic heterogeneity of OS. [source]


Andrew Seltzer
Australian firms; banks; internal labour markets; railroads; salaries This paper examines internal labour markets in the late nineteenth and early twentieth century using personnel records from the Union Bank of Australia and the Victorian Railways. Both employers hired young workers and offered them the possibility of very-long-term employment. Salaries were determined by impersonal rules, such as being attached to tenure and to position. Workers rarely received nominal pay cuts. This approach to human resources was designed to retain and motivate workers. We show that all of the classic features of internal labour markets used to describe American firms in the 1970s were present dating back to the Victorian period. [source]

Diversion colitis in children with colovaginoplasty

H.A. Syed
Objective To highlight the occurrence of diversion colitis and its effects in colovaginoplasty. Patients and methods The records of 18 children who had undergone colovaginoplasty were reviewed retrospectively. Nine patients had androgen-insensitivity syndrome and three each had congenital adrenal hyperplasia, vaginal agenesis and Mayer,Rokitansky syndrome. Through an abdominoperineal approach a segment of sigmoid colon was isolated on its vascular pedicle and brought to the perineum in the plane between the urethra and rectum, as a blind pouch or as an interposition between the proximal vagina and the perineum. The mean (range) follow-up was 5 (1.5,8) years. Results There were no major complications during the early follow-up. Three patients developed severe vaginal discharge with bleeding 2,7 years after colovaginoplasty; examination showed erythema, oedema, ulceration and bleeding. Histology confirmed the classic features of diversion colitis in all three patients. One child responded to vaginal irrigation with a solution of short-chain fatty acids, and the other two were treated with steroid enemas and mesalazine after a poor response to short-chain fatty acids. One of these patients has required surgical reduction of an excessively long neovagina. Conclusion Symptomatic diversion colitis can occur after colovaginoplasty. The severity of the symptoms raises concerns about the use of colovaginoplasty in children and alternative techniques of vaginal replacement should be considered in the first instance. [source]