PubMed · 13342814
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JOULIA, LUGARDON, TEXIER, FRUCHARD. [Vitiligo, pelada and diffuse lichenification].. https://pubmed.ncbi.nlm.nih.gov/13342814/
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BACKGROUND: A two-part study was initiated to compare kidney transplant patient and transplant professional perceptions regarding immunosuppression-related physical changes and their impact on transplant recipients. METHODS: Parallel surveys were developed and administered to transplant patients and active transplant clinicians. RESULTS: Eighty percent of surveyed patients reported immunosuppression-induced hirsutism, gingival hyperplasia, acne, alopecia, or cushingoid facies. Hirsutism (94%) and gingival hyperplasia (51%) occurred more frequently in cyclosporine patients (p < 0.01); alopecia (30%) occurred more frequently in tacrolimus patients (p < 0.01). Patient reported incidence of physical changes significantly exceeded observations by professionals for every condition (p < 0.01), however 84.4% of affected patients reported feeling "happy to endure" changes "for the sake of having a transplant." Patients also reported emotional and social effects due to physical changes, an outcome underestimated by transplant professionals (p < 0.01). Patients and professionals communicated about physical changes; however, more than half of affected patients believed communication occurred "rarely/never" while over half of the professionals believed communication occurred "every visit/most of the time." Although most physicians believed changes could be addressed, doctors recommended treatment for less than half of the affected patients. When recommended therapy changes were pursued, treatments were effective in the majority of cases. CONCLUSIONS: Incidence of immunosuppression-related physical changes is high and somewhat dependent on drug regimen. Although patients seem willing to accept cosmetic changes for the sake of having a transplant, physical changes have a psychosocial impact that is underestimated by clinicians. Immunosuppression-related physical changes remain underaddressed; effective interventions offer opportunities for improved care.
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). We studied a young Saudi Arabian girl who exhibited the typical clinical features of HVDRR, but without alopecia. Analysis of her VDR gene revealed a homozygous T to C mutation in exon 7 that changed isoleucine to threonine at amino acid 268 (I268T). From crystallographic studies of the VDR ligand-binding domain, I268 directly interacts with 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)] and is involved in the hydrophobic stabilization of helix H12. We recreated the I268T mutation and analyzed its effects on VDR function. In ligand binding assays, the I268T mutant VDR exhibited an approximately 5- to 10-fold lower affinity for [(3)H]1,25(OH)(2)D(3) compared with the wild-type (WT) VDR. The I268T mutant required approximately a 65-fold higher concentration of 1,25(OH)(2)D(3) to be equipotent in gene transactivation. Both retinoid X receptor heterodimerization and coactivator binding were reduced in the I268T mutant. Analogs of 1,25(OH)(2)D(3) have been proposed as potential therapeutics for patients with HVDRR. Interestingly, in protease sensitivity assays, treatment with the potent vitamin D analog, 20-epi-1,25(OH)(2)D(3), stabilized I268T mutant proteolytic fragments better than 1,25(OH)(2)D(3). Moreover, 20-epi-1,25(OH)(2)D(3) restored transactivation of the I268T mutant to levels exhibited by WT VDR treated with 1,25(OH)(2)D(3). In conclusion, we describe a novel mutation, I268T, in the VDR ligand-binding domain that alters ligand binding, retinoid X receptor heterodimerization, and coactivator binding. These combined defects in VDR function cause resistance to 1,25(OH)(2)D(3) action and result in the syndrome of HVDRR.
Despite advances in the treatment of many side effects associated with chemotherapy, alopecia remains an issue that is difficult to resolve. Chemotherapy-induced alopecia (CIA) is a condition that can have profound psychosocial and quality-of-life consequences, resulting in anxiety, depression, a negative body image, lowered self-esteem, and a reduced sense of well-being. Patients who fear CIA may sometimes select regimens with less favorable outcomes or may refuse treatment. When supporting patients with CIA, health care providers should use an individualized approach with a focus placed on the actual moment of hair loss. Education, support groups, and self-care strategies are important components of any management approach. No treatment modality for preventing CIA has been clearly shown to be effective. Recent evidence suggests that new scalp hypothermic regimens may be safe and effective. There remains a critical need for effective new approaches to this problem.