- Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. [Journal Article]
- GGlycobiology 2018 Feb 14
- Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsu...
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis, and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood. Here we report a patient with a congenital syndrome consisting of severe global developmental delay, microcephaly, heart defects, failure to thrive, and liver disease with a previously unreported homozygous NM_015352.1: c.485 C>T variant (p.Ser162Leu) in POFUT1 detected by exome sequencing. Both parents are heterozygotes and neither manifests any signs of DDD. No other detected variant explained the phenotype. This variant eliminated a conserved N-glycosylation sequon at Asn160 in POFUT1 and profoundly decreased POFUT1 activity in patient fibroblasts compared to control fibroblasts. Purified p.Ser162Leu mutant protein also showed much lower POFUT1 activity with a lower affinity for EGF acceptor substrate than wild type POFUT1. Eliminating the N-glycan sequon by replacing Asn160 with Gln had little effect on POFUT1 activity, suggesting that loss of the glycan is not responsible for the defect. Furthermore, the p.Ser162Leu mutant showed weaker ability to rescue Notch activity in cell-based assays. These results suggest that this N-glycan of POFUT1 is not required for its proper enzymatic function, and that the p.Ser162Leu mutation of POFUT1 likely causes global developmental delay, microcephaly with vascular and cardiac defects.
- Intense pulsed light is effective in treating postburn hyperpigmentation and telangiectasia in Chinese patients. [Journal Article]
- JCJ Cosmet Laser Ther 2018 Feb 16; :1-6
- Intense pulsed light (IPL) has been used to treat postinflammatory hyperpigmentation and telangiectasia in Fitzpatrick type I -II skin. However, its therapeutic effects after superficial second-degre...
Intense pulsed light (IPL) has been used to treat postinflammatory hyperpigmentation and telangiectasia in Fitzpatrick type I -II skin. However, its therapeutic effects after superficial second-degree burns in Asian populations with Fitzpatrick type III-IV skin are uncertain. Thirty-five Han Chinese patients with facial or hand hyperpigmentation and telangiectasia due to second-degree fire burns received treatment with IPL. Each patient underwent 2-6 treatments over 3-5 weeks. The laser wavelength was 560-615 nm. Skin pigmentation was evaluated by two plastic surgeons as well as by the patients themselves (self-evaluation) before treatment at the end of the treatment cycle and 1 year after the first treatment. Blood flow in telangiectasia skin was measured by laser Doppler flow. The results showed that IPL significantly lessened hyperpigmentation so that close to normal skin color was achieved after the treatment cycles, and pigmentation did not reoccur 1 year after the first treatment. Approximately 82.9% of the patients were satisfied with their treatment outcomes. There were no post-treatment complications. Doppler showed a significant decreased blood flow in telangiectasia after treatment. In conclusion, IPL is an effective and safe modality for Chinese patients with hyperpigmentation and telangiectasia after fire burns.
- Laugier-Hunziker Syndrome Presenting with Metachronous Melanoacanthomas. [Journal Article]
- HNHead Neck Pathol 2018 Feb 15
- Laugier-Hunziker syndrome (LHS, also termed idiopathic lenticular mucocutaneous hyperpigmentation) is an unusual condition characterized by progressive pigmentation of the mucous membranes. LHS displ...
Laugier-Hunziker syndrome (LHS, also termed idiopathic lenticular mucocutaneous hyperpigmentation) is an unusual condition characterized by progressive pigmentation of the mucous membranes. LHS displays a benign course and is not associated with malignancy. Here we present a case of LHS with a 7-year follow-up. We document metachronous oral melanoacanthomas in this individual. In addition, we found that the oral melanotic macules in this patient waxed and waned in a cyclical manner. To our knowledge, this is the first report of these findings in the context of LHS. Finally, we provide an overview of other conditions that can present with mucosal hyperpigmentation. It is critical to distinguish LHS from other conditions characterized by mucosal pigmentation in order to facilitate optimal patient care.
- [Supratentorial Meningeal Melanoma with Nevus of Ota:A Case Report]. [Journal Article]
- NSNo Shinkei Geka 2018; 46(2):139-145
- We present a rare case of supratentorial meningeal melanoma associated with ipsilateral nevus of Ota, and a review of the literature. The patient was a 32-year-old man with a right-sided nevus of Ota...
We present a rare case of supratentorial meningeal melanoma associated with ipsilateral nevus of Ota, and a review of the literature. The patient was a 32-year-old man with a right-sided nevus of Ota, presenting with unconsciousness. His CT and MRI scans revealed an extra axial tumor with dural tail signs; no lesion was detected on systemic examination. Intraoperatively, the tumor demonstrated black hyperpigmentation and was histologically diagnosed as malignant melanoma. Following surgery, he received radiotherapy and chemotherapy. For over a year and a half, the patient has shown no recurrence of the lesion.
- Glutathione for skin lightening: a regnant myth or evidence-based verity? [Journal Article]
- DPDermatol Pract Concept 2018; 8(1):15-21
- The recent hype surrounding the antimelanogenic properties of glutathione has resulted in physicians frequently administering it as a "wonder" drug for skin lightening and treatment of hyperpigmentat...
The recent hype surrounding the antimelanogenic properties of glutathione has resulted in physicians frequently administering it as a "wonder" drug for skin lightening and treatment of hyperpigmentation, especially in ethnic populations with darker skin tones. This phenomenon has seen a recent surge owing to aggressive marketing and capitalization of pharma-cosmeceutical companies. However, the unbridled and prodigal use of it, especially as a parenteral formulation, seems unjustified, given the lacunae in our knowledge about its antimelanogenic potential, limited clinical evidence favoring its role in skin lightening, and the statutory ban/advisory issued by certain federal agencies. Even though parenteral glutathione is approved only for severe liver disorders and for prevention of chemotherapy associated neurotoxicity, the lack of statutory laws governing the use of systemic glutathione in most countries has contributed to its unchecked use for skin lightening. The current clinical evidence of intravenous glutathione for skin lightening is limited to a single study with a dubious study design and apparently flawed analysis of results, casting doubt on the drug's efficacy and reported adverse effects. Two studies evaluating oral/sublingual administration and one trial involving the use of topical glutathione reported good safety profile and appreciable but reversible results on skin tone. In this article, we shall review and discuss the current status of glutathione as a skin lightening agent and address the sundry unanswered queries regarding the dosage, duration of use and longevity of accrued effects based on clinical evidence and recent insights into its antimelanogenic mechanism.
- A prospective right-left comparative study to evaluate the efficacy and tolerability of combination of NB-UVB and topical bimatoprost 0.03% eye drops versus NB-UVB given alone in patients of vitiligo vulgaris. [Journal Article]
- JEJ Eur Acad Dermatol Venereol 2018 Feb 14
- The treatment of vitiligo has been a tough challenge for dermatologists. Phototherapy, apart from being first line monotherapy,1has also been used in combination with topical therapies like corticost...
The treatment of vitiligo has been a tough challenge for dermatologists. Phototherapy, apart from being first line monotherapy,1has also been used in combination with topical therapies like corticosteroids, khellin, phenylalanine, calcineurin inhibitors etc, with the aim of hastening and enhancing repigmentation and reducing side-effects.2,3Recent reports have highlighted darkening of iris, and eyelash and periocular hyperpigmentation induced by latanoprost (prostaglandin F2α analogue) used for treatment of glaucoma.4Extrapolating these findings in treatment of vitiligo, we assessed the outcome of NB- UVB and topical bimatoprost 0.03% combination versus NB-UVB alone in a prospective right-left comparative study. This article is protected by copyright. All rights reserved.
- The efficacy and safety of non-pharmacological therapies for the treatment of acne vulgaris: A systematic review and best-evidence synthesis. [Journal Article]
- JEJ Eur Acad Dermatol Venereol 2018 Feb 14
- CONCLUSIONS: Circumstantial evidence was found for non-pharmacological therapies in the treatment of acne vulgaris. However, the lack of high methodological quality among included studies prevented us to draw clear conclusions, regarding a stepwise approach. Nevertheless, our systematic review including a best-evidence synthesis did create order and structure in resulting outcomes in which a first step towards future research is generated. This article is protected by copyright. All rights reserved.
- Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature. [Journal Article]
- MCMol Cytogenet 2018; 11:15
- CONCLUSIONS: We detected two rare mosaic idic(15) karyotypes that were associated with congenital abnormalities, including a rare mosaic octosomy of 15q11-q13. Our cases further validate the notion that the phenotypic severity is correlated with the level of mosaicism and the dosage effect of related genes in the proximal 15q.
- A national survey on management of varicose veins in China. [Journal Article]
- JVJ Vasc Surg Venous Lymphat Disord 2018 Feb 10
- CONCLUSIONS: Both traditional surgery and minimally invasive techniques are used for patients with varicose veins in China, but traditional surgery is the mainstay of treatment for varying degrees of varicose veins. Related clinical factors, duplex ultrasound scan findings, medical insurance, and economy may have influenced the physicians' choice of treatment modality for varicose veins.
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- Protective effects of an extract of the freshwater microalga Scenedesmus rubescens on UV-irradiated skin cells. [Journal Article]
- IJInt J Cosmet Sci 2018 Feb 13
- CONCLUSIONS: An extract of Scenedesmus rubescens showed broad activity against markers of UV-irradiation induced cutaneous ageing. It may therefore be used as a preventive or regenerative agent for anti-ageing strategies. This article is protected by copyright. All rights reserved.