Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system. Signs and symptoms
Symptoms include brittle hair, mild mental retardation and nail dysplasia. The syndrome was first observed in Sabinas, a small community in northern Mexico. The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine.The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. Review of literature reveals extensive associated findings in trichothiodystrophy. Amino acid analyses of control hair when compared with those of patients with the Sabinas syndrome showed very striking differences with regard to content of sulphur amino acids. As in previous descriptions of amino acid abnormalities in the trichorrhexis nodosa of arginosuccinicaciduria, there were increases in lysine, aspartic acid, alanine, leucine, isoleucine, and tyrosine. Trichothiodystrophy represents a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects.
Risankizumab, sold under the brand name Skyrizi, is a humanized monoclonal antibody targeting interleukin 23A (IL-23A). Risankizumab is part of a collaboration between Boehringer Ingelheim and AbbVie. Risankizumab has been approved in the European Union, the United States, and Canada for the treatment of moderate to severe plaque psoriasis in adults who are candidates for systemic therapy, and moderate to severe Crohns disease in the United States. In Japan, it is approved for treating plaque psoriasis, generalized pustular psoriasis, erythrodermic psoriasis and psoriatic arthritis in adults who have an inadequate response to conventional therapies. Clinical trials
Psoriasis
In a phase I clinical trial, thirty-nine patients received single-dose risankizumab, eighteen of which received the drug intravenously, thirteen subcutaneously, and eight received the placebo drug. There were several instances that adverse effects occurred but in the same frequency for the placebo and the experimental groups. Four serious adverse events occurred in the risankizumab treated patients, all of which were judged not treatment related. Risankizumab was associated with clinical improvement in individuals treated with the drug, from week 2 and maintained for up to 66 weeks after treatment. At week 12 of treatment, 75%, 90%, and 100% decreases in the Psoriasis Area and Severity Index (PASI) were achieved by 87%, 58%, and 16% of risankizumab treated patients, regardless of dose, respectively, versus individuals receiving placebo.