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    Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study.
    Eur J Pediatr 2018 Apr 19. Epub 2018 Apr 19.
    Department of Dermatology, MVP's Dr. VasantraoPawar Medical College, Flat no. 11, Manomay Apartment, Savatanagar CIDCO, Nashik, Maharashtra, 422008, India.
    Eyelash trichomegaly (ET) is increased length (≥ 12 mm), curling, pigmentation, or thickness of eyelashes. Among acquired causes, allergic diseases and atopic dermatitis (AD) have been found to be associated with eyelash trichomegaly especially in children; however, to date, this claim has not been studied in detail. To compare the eyelash lengths of AD and ichthyosis vulgaris (IV) patients with those of age- and sex-matched patients with unrelated skin disorders, we measured (with a digital Vernier caliper) and compared the eyelash lengths of AD (n = 58) and IV (n = 31) patients to those of age- and sex-matched patients with unrelated skin disorders (n = 178). Read More

    A study of the association of glutathione S-transferase M1/T1 polymorphisms with susceptibility to vitiligo in Egyptian patients.
    An Bras Dermatol 2018 Jan-Feb;93(1):54-58
    Department of Dermatology and Venereology, National Research Centre - Giza, Egypt.
    Background: The association of glutathione S-transferases M1/T1 (GSTM1/T1) null polymorphisms with vitiligo was proposed in several studies including two Egyptian studies with contradictory results.

    Objective: The aim here was to assess the association between GSTM1/T1 null polymorphisms and the susceptibility to vitiligo in a larger sample of Egyptian patients with generalized vitiligo.

    Methods: This study included 122 vitiligo patients and 200 healthy controls that were age, and gender matched. Read More

    Case Report: Dermoscopic features of oral lichen planus - the evolution of mucoscopy.
    F1000Res 2018 6;7:284. Epub 2018 Mar 6.
    Department of Dermatology, College of Medicine, King Faisal University, Hofuf, Saudi Arabia.
    Dermoscopy, a non-invasive technique for cutaneous diagnosis is being increasingly studied in various disorders of the skin, nails and scalp. However, it has been under-utilized for the diagnosis and characterization of mucosal disorders. The dermoscopic characterization of cutaneous lichen planus and its variants has been well documented with Wickham's striae constituting the hallmark of the condition. Read More

    Biochemical aspects of mammalian melanocytes and the emerging role of melanocyte stem cells in dermatological therapies.
    Int J Health Sci (Qassim) 2018 Jan-Feb;12(1):69-76
    Department of Biotechnology, Saifia Science College, Bhopal, Madhya Pradesh, India.
    Skin color in animals is richer than human beings and is determined by different types of pigments. Melanin is the key pigment responsible for the diverse pigmentation found in animal and human skin, hair, and eyes. Melanin pigment is synthesized by melanocytes and is consecutively transferred to adjacent keratinocytes; here, it acts as an internal sunscreen to defend from ultraviolet (UV) damage. Read More

    Double-blind, Placebo-controlled Trial to Evaluate the Effectiveness of Extract in the Treatment of Melasma in Asian Skin: A Pilot Study.
    J Clin Aesthet Dermatol 2018 Mar 1;11(3):14-19. Epub 2018 Mar 1.
    Drs. Goh, Chuah, and Thng are with the National Skin Centre in Singapore.
    Melasma is a common pigmentary disorder with a multifactorial etiology that can hinder its management. The aqueous extract of the fern (PLE), Fernblock (IFC, Madrid, Spain), has demonstrated antioxidant and photoprotective activities and has been used for the treatment of several pigmentary disorders. The aim of this study was to evaluate the efficacy and safety of oral PLE in the treatment of melasma in Asian patients. Read More

    Altered organization of the visual cortex in FHONDA syndrome.
    Neuroimage 2018 Mar 8. Epub 2018 Mar 8.
    Department of Ophthalmology, Otto-von-Guericke University, Magdeburg, Germany; Center for Behavioral Brain Sciences, Magdeburg, Germany. Electronic address:
    A fundamental scheme in the organization of the early visual cortex is the retinotopic representation of the contralateral visual hemifield on each hemisphere. We determined the cortical organization in a novel congenital visual pathway disorder, FHONDA-syndrome, where the axons from the temporal retina abnormally cross to the contralateral hemisphere. Using ultra-high field fMRI at 7 T, the population receptive field (pRF) properties of the primary visual cortex were modeled for two affected individuals and two controls. Read More

    Pigmentary mosaicism: a review of original literature and recommendations for future handling.
    Orphanet J Rare Dis 2018 Mar 5;13(1):39. Epub 2018 Mar 5.
    Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4 , Entrance 142, 5000, Odense C, Denmark.
    Background: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Read More

    Massive intussusception caused by a solitary Peutz-Jeghers type hamartomatous polyp.
    Ann R Coll Surg Engl 2018 Apr 27;100(4):e91-e93. Epub 2018 Feb 27.
    Surgical Department, General Hospital of Agrinio , Agrinio, Aitoloakarnania , Greece.
    Intussusception is a rare cause of intestinal obstruction in adults and represents a diagnostic challenge for the surgeon. In the majority of cases, presenting symptoms are not specific, making preoperative diagnosis difficult. Several medical conditions may cause intestinal intussusception. Read More

    Functional and cosmetic donor site morbidity of the radial forearm-free flap: comparison of two different coverage techniques.
    Eur Arch Otorhinolaryngol 2018 May 26;275(5):1219-1225. Epub 2018 Feb 26.
    Clinic of Otolaryngology, Head and Neck Surgery and Department of Head Medicine and Oral Health, University Hospital Leipzig, Liebigstr. 12, 04103, Leipzig, Germany.
    Background: The use of the radial forearm-free flap is a well-established and reliable reconstruction method in head and neck surgery. Usually, the defect of the donor site is covered with full or split-thickness skin grafts. Since 09/2013, a direct closure of the radial forearm donor site has been performed at the ENT University Hospital Leipzig to avoid secondary donor site morbidity. Read More

    An unusual presentation of primary cutaneous amyloidosis.
    Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.
    Department of Dermatology and STD, Lady Hardinge Medical College. New Delhi, India.
    Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It comprises the following clinical types: macular, lichenoid, nodular, and biphasic. There are also rare variants such as amyloidosis cutis dyscromica and poikiloderma-like cutaneous amyloidosis. Read More

    Natural options for management of melasma, a review.
    J Cosmet Laser Ther 2018 Feb 20:1-12. Epub 2018 Feb 20.
    a Laser Research Centre, Faculty of Health Sciences , University of Johannesburg , Doornfontein , South Africa.
    A blemish free, even-toned skin is universally associated with healthy skin. This reasoning makes people desire to have a flawless skin. Melanin is a naturally occurring pigment in humans. Read More

    Coumestrol Confers Partial Resistance in Soybean Plants Against Cercospora Leaf Blight.
    Phytopathology 2018 Feb 16. Epub 2018 Feb 16.
    Louisiana State Univ, Plant Pathology , 302 Life Sciences Bldg , Baton Rouge, Louisiana, United States , 70803 ;
    Although previous research showed that the purple symptom of Cercospora leaf blight (CLB) is associated with lower biomass of Cercospora cf. flagellaris and lower concentrations of cercosporin, a reactive oxygen species producer, as compared to blighted leaves, the hypothesis that the purple symptom is a plant reaction to the pathogen has never been tested. In this study, we demonstrated that high levels of coumestrol (COU) were associated with purple symptoms of CLB and that COU has strong antioxidant activity. Read More

    Mucocutaneous Manifestations in Patients with Chronic Kidney Disease: A Cross-sectional Study.
    Indian Dermatol Online J 2018 Jan-Feb;9(1):20-26
    Department of Dermatology, Venereology and Leprosy, Dr. R. P. Govt. Medical College, Kangra, Himachal Pradesh, India.
    Background: Chronic kidney disease (CKD)-associated mucocutaneous manifestations significantly impair the quality of life but often remain understudied. They may also vary across regions, socioeconomic and nutritional status, and racial differences.

    Objectives: To study the patterns of mucocutaneous disorders and their prevalence in CKD patients irrespective of clinical stage or dialysis status. Read More

    TRP‑2 mediates coat color pigmentation in sheep skin.
    Mol Med Rep 2018 Apr 6;17(4):5869-5877. Epub 2018 Feb 6.
    College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Jinzhong, Shanxi 030801, P.R. China.
    Tyrosinase‑related protein 2 (TRP‑2) is one of the most important members of the tyrosinase family, and is a key enzyme involved in melanin biosynthesis. In the present study, a skin transcriptome profile, immunohistochemistry, western blotting and reverse transcription‑quantitative polymerase chain reaction were used to investigate TRP‑2 expression in sheep with different coat colors, namely, black, white and black‑white. TRP‑2 was overexpressed in melanocytes in order to study the effect of TRP‑2 on melanin production. Read More

    Dietary intake of glucono-δ-lactone attenuates skin inflammation and contributes to maintaining skin condition.
    Food Funct 2018 Mar 12;9(3):1524-1531. Epub 2018 Feb 12.
    Biological Science Research, Kao Corporation, 2606 Akabane, Ichikai-machi, Haga-gun, Tochigi 321-3497, Japan.
    Skin properties are influenced by both external (e.g., ultraviolet [UV], chemicals, and bacteria) and internal factors (e. Read More

    Pigmentation Disorders: Diagnosis and Management.
    Am Fam Physician 2017 Dec;96(12):797-804
    Norton Audobon Hospital, Louisville, KY, USA.
    Pigmentation disorders are commonly diagnosed, evaluated, and treated in primary care practices. Typical hyperpigmentation disorders include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café au lait macules. These conditions are generally benign but can be distressing to patients. Read More

    Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.
    J Genet Couns 2018 Feb 10. Epub 2018 Feb 10.
    Frambu Resource Centre for Rare Disorders, Sandbakkvn 18, Siggerud, Norway.
    Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. Read More

    Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
    J Hum Genet 2018 Apr 5;63(4):417-423. Epub 2018 Feb 5.
    Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
    Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. Read More

    Melanopsin and rhodopsin mediate UVA-induced immediate pigment darkening: Unravelling the photosensitive system of the skin.
    Eur J Cell Biol 2018 Apr 1;97(3):150-162. Epub 2018 Feb 1.
    Laboratory of Comparative Physiology of Pigmentation, Department of Physiology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil; Department of Biology, University of Virginia, Charlottesville, VA, USA. Electronic address:
    The mammalian skin has a photosensitive system comprised by several opsins, including rhodopsin (OPN2) and melanopsin (OPN4). Recently, our group showed that UVA (4.4 kJ/m) leads to immediate pigment darkening (IPD) in murine normal and malignant melanocytes. Read More

    Influence of visible light on cutaneous hyperchromias: Clinical efficacy of broad-spectrum sunscreens.
    Photodermatol Photoimmunol Photomed 2018 Jan 30. Epub 2018 Jan 30.
    Faculty of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
    Introduction: Cutaneous hyperchromias are disorders of skin pigmentation involving increased melanin production and its irregular accumulation in skin cells. The use of sunscreens is fundamental for the control of hyperchromias by reducing the stimulation of pigmentation, as melanin synthesis is mainly stimulated by solar radiation. Many studies have demonstrated that visible light can induce significant skin damage. Read More

    Xeroderma Pigmentosum - Facts and Perspectives.
    Anticancer Res 2018 02;38(2):1159-1164
    Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany
    Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. Read More

    Optimizing suction blister epidermal graft technique in the surgical treatment of vitiligo.
    An Bras Dermatol 2017 Nov-Dec;92(6):888-890
    Department of Dermatology at Hospital Santa Casa de Curitiba - Curitiba (PR), Brazil.
    Surgical management of vitiligo is considered an excellent terapeutic option for recalcitrant cases, provided the disease is stable and there is absence of Koebner phenomenom. Among surgical modalities, Suction Blister Epidermal Graft is a low cost and effective option (65 to 100% repigmentation can be achieved in up to 80% of patients). We describe how it can be optimized by using an alternative suction equipment, by customization of graft format and by application of an anesthetic technique that substantially reduces procedure time. Read More

    Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient.
    An Bras Dermatol 2017 Nov-Dec;92(6):870-873
    Department of Pediatrics at Hospital Federal de Bonsucesso (HFB) - Rio de Janeiro (RJ), Brazil.
    Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. Read More

    Prepubertal and postpubertal vitiligo: a multivariate comparative study in 375 patients.
    An Bras Dermatol 2017 Nov-Dec;92(6):811-815
    Dermatology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
    Background: The onset of vitiligo during childhood is common. Limited data exist that compare the clinical associations of prepubertal and postpubertal vitiligo in Arabs.

    Objective: To compare the clinical profile of pre and postpubertal onset vitiligo. Read More

    Upregulation of by Phenolic Compounds-Rich Treatment Promotes Melanogenesis in B16 Melanoma Cells and Human Epidermal Melanocytes.
    Biomed Res Int 2017 21;2017:8303671. Epub 2017 Nov 21.
    Faculty of Life and Environmental Sciences, University of Tsukuba, Tsukuba City 305-8572, Japan.
    Melanin provides inherent protection against skin cancer by absorbing broad-spectrum radiant energy of UV radiation. Cutaneous malignant melanoma incidence has recently been observed to increase and the frequency is closely associated with the skin color, highlighting the importance of skin pigmentation. Here, we showed how melanin biosynthesis is enhanced by treatment with phenolic compounds-rich (CYM) in B16 murine melanoma cells and human epidermal melanocytes (HEM). Read More

    Fine-mapping analysis of the MHC region for vitiligo based on a new Han-MHC reference panel.
    Gene 2018 Mar 2;648:76-81. Epub 2018 Feb 2.
    Institute of Dermatology and Department of Dermatology of the First Affiliated Hospital, Anhui Medical University, Hefei 230032, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei 230032, China. Electronic address:
    Vitiligo is an immune-related disease with patchy depigmentation of skin and hair caused by selective destruction of melanocytes. In recent decades, many studies have shown the association between vitiligo and HLA genes; however, the results of Han Chinese are scarce. In this study, we performed a fine-mapping analysis of the MHC region in 2818 Han Chinese subjects through a widely used HLA imputation method with a newly built large-scale Han-MHC reference panel. Read More

    [ELEMENTAL STATUS OF PATIENTS WITH VARIOUS FORMS OF VITILIGO].
    Georgian Med News 2017 Dec(273):64-68
    Tbilisi State Medical University, Department of Dermatology and Venerology; "Georgigian Assotiation of Vitiligo", Center of Medical Elementology "Laboretory Bioelement", Tbilisi, Georgia.
    Vitiligo is a multifactorial disease in which, in each specific case of its manifestation, different mechanisms of its pathogenesis and different levels of melanin formation in the skin can be involved. Skin is one of the most metabolically active organs. Carrying out a number of vital functions (barrier, protective, respiratory, excretory, metabolic, immune, etc. Read More

    Actual state of knowledge in the field of diseases related with defective nucleotide excision repair.
    Life Sci 2018 Feb 2;195:6-18. Epub 2018 Jan 2.
    Food Science Department, Faculty of Pharmacy, Medical University of Lodz, Muszynskiego 1, 90-151 Lodz, Poland.
    Xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) are rare genetic diseases characterized by a large range of clinical symptoms. However, they are all associated with defects in nucleotide excision repair (NER), the system responsible for removing bulky DNA lesions such as those generated by UV light: cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone photoproducts (6-4 PPs). Over the past years, detailed structural and biochemical information on NER-associated proteins has emerged. Read More

    Oral mucosa lesions and gingival bleeding can indicate the progression of liver disease in children and adolescents aged two to 18 years.
    Acta Paediatr 2018 May 24;107(5):886-892. Epub 2018 Jan 24.
    Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.
    Aim: This study assessed correlations between systemic disturbances of paediatric chronic liver diseases (CLD) and oral symptoms in subjects aged 2-18 years.

    Methods: It was carried out during outpatient appointments at the Children's Memorial Health Institute, Warsaw, Poland, from 2010 to 2015 and comprised 52 CLD patients with a mean age of 12.3 ± 4. Read More

    Skin autofluorescence reflects individual seasonal UV exposure, skin photodamage and skin cancer development in organ transplant recipients.
    J Photochem Photobiol B 2018 Jan 6;178:577-583. Epub 2017 Dec 6.
    Department of Dermato-venerology, Bispebjerg University Hospital, 2400 Copenhagen, Denmark.
    Importance: Ultraviolet radiation (UVR)-induced skin cancers varies among organ transplant recipients (OTRs). To improve individual risk assessment of skin cancer, objectively quantified skin photodamage is needed.

    Objectives: We measured personal UVR-exposure dose in OTRs and assessed the relation between individual UVR exposure, skin cancer and objectively measured photodamage in terms of skin autofluorescence, pigmentation, and black light-evaluated solar lentigines. Read More

    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
    J Clin Endocrinol Metab 2018 Mar;103(3):1005-1014
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
    Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation. Read More

    Hyperpigmentation as a peculiar presentation of mycosis fungoides.
    An Bras Dermatol 2017 ;92(5 Suppl 1):92-94
    Department of Dermatology, Kaohsiung Veterans General Hospital - Kaohsiung, Taiwan.
    Hyperpigmented mycosis fungoides is an extremely rare subtype of mycosis fungoides. It presents as multiple pigmented macules and patches without poikilodermatous changes and characterized by a CD8+ phenotype on immunohistochemistry. This report describes a typical case of hyperpigmented mycosis fungoides in a 62-year-old woman, who presented with a 7-year history of multiple hyperpigmented macules and patches on the trunk and right leg with progression over this half a year. Read More

    Frontal fibrosing alopecia and lichen planus pigmentosus: diagnosis and therapeutic challenge.
    An Bras Dermatol 2017 ;92(5 Suppl 1):79-81
    Department of Basic Pathology, Universidade Federal do Paraná (UFPR) - Curitiba (PR), Brazil.
    Frontal fibrosing alopecia is a variant of lichen planopilaris with marginal progressive hair loss on the scalp, eyebrows and axillae. We report a case of frontal fibrosing alopecia and lichen planus pigmentosus in a postmenopausal woman, that started with alopecia on the eyebrows and then on the frontoparietal region, with periocular and cervical hyperpigmentation of difficult management. The condition was controlled with systemic corticosteroid therapy and finasteride. Read More

    Frontal fibrosing alopecia and extrafacial lichen planus pigmentosum in a caucasian woman.
    An Bras Dermatol 2017 ;92(5 Suppl 1):76-78
    Department of Pathology, Hospital General Universitario Ciudad Real - Ciudad Real, Spain.
    We present the case of a 72-year-old Caucasian woman with frontal fibrosing alopecia of one year's duration. Eighteen months later, she presented with sudden hyperpigmentation on the submental area, neck and upper chest. Histopathological examination was consistent with lichen planus pigmentosus. Read More

    Diffuse cutaneous melanosis: rare complication of metastatic melanoma.
    An Bras Dermatol 2017 ;92(5 Suppl 1):62-64
    Private practice - Brasília (DF), Brazil.
    Diffuse cutaneous melanosis is a rare complication of metastatic melanoma related to a worse prognosis. There are few cases reported in the literature. Its pathogenesis has not been completely elucidated, although studies have suggested certain mechanisms for its occurrence. Read More

    Cutaneous polyarteritis nodosa causing refractory skin deformation and pigmentation as sequel.
    An Bras Dermatol 2017 ;92(5 Suppl 1):53-55
    Department of Dermatology, Mie University Graduate School of Medicine - Mie, Japan.
    A 39-year-old woman presented with prominent and painful livedo reticularis lesions spreading on her upper and lower extremities. Histopathologically, the small-to medium-sized arteries in the deep dermis and subcutis showed necrotizing vasculitis with cellular infiltration, suggesting cutaneous polyarteritis nodosa. The serum levels of inflammatory markers normalized with aspirin 100mg/day and prednisolone 10mg/day within 2 months, and there was no other skin or organ involvement over 18 months of follow up. Read More

    Association of amyloidosis cutis dyschromica and familial Mediterranean fever.
    An Bras Dermatol 2017 ;92(5 Suppl 1):21-23
    Department of Gastroenterology, Mugla Sitki Kocman University Medical School - Mugla, Turkey.
    Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ethnicity. Various diseases, particularly autoimmune diseases such as systemic sclerosis and systemic lupus erythematosus, have been associated with amyloidosis cutis dyschromica. Read More

    Ashy dermatosis with involvement of mucous membranes.
    An Bras Dermatol 2017 ;92(5 Suppl 1):17-20
    Derpatment of Dermatology at Hospital de Santarém, EPE - Santarém, Portugal.
    Ashy dermatosis is a rare condition, of unknown aetiology, in which mucous membranes are typically spared. The authors report the case of a 57-year-old female with a history of asymptomatic gray-bluish macules located on the trunk and oral mucosa. There were no relief changes on examination. Read More

    Congenital longitudinal melanonychia: a case report.
    Acta Dermatovenerol Alp Pannonica Adriat 2017 Dec;26(4):119-120
    Department of Dermatology, University Medical Centre, Maribor, Slovenia.
    Congenital longitudinal melanonychia is rarely seen in Caucasians and poses a diagnostic dilemma. It is characterized by the presence of hyperpigmented brown or black streaks visible in the nail plate. We present the case of 20-month-old boy with congenital longitudinal melanonychia, the diagnostic procedure, and management. Read More

    Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
    Cytogenet Genome Res 2017 20;153(2):81-85. Epub 2017 Dec 20.
    Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
    Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22. Read More

    Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.
    Ophthalmic Surg Lasers Imaging Retina 2017 Dec;48(12):1016-1020
    The authors report the first case, to their knowledge, of failed pneumatic retinopexy (PR) for rhegmatogenous retinal detachment (RRD) repair in a patient with ocular albinism (OA). The failure of PR to spontaneously resolve the subretinal fluid and reattach the retina in this case is suggestive of a deficiency in subretinal fluid reabsorption by the retinal pigment epithelium (RPE). These findings suggest that in cases of RRD in OA, primary PR should be avoided since this procedure relies on an adequately functioning RPE pump to reabsorb subretinal fluid prior to laser retinopexy. Read More

    Atypical Presentation of Radiation-Associated Breast Angiosarcoma: A Case Report and Review of Literature.
    Am J Case Rep 2017 Dec 18;18:1347-1350. Epub 2017 Dec 18.
    Department of Hematology/Oncology, Cleveland Clinic Florida, Maroone Cancer Center, Weston, FL, USA.
    BACKGROUND Radiation-associated breast angiosarcoma is a rare clinical entity that is thought to be increasing in incidence. CASE REPORT Here we present the case of a 67-year-old female with a history of left breast invasive ductal carcinoma who received breast conserving surgery and radiation therapy eight years ago. She then presented with a painless mild skin discoloration of the left breast that had been present for over one year. Read More

    A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report.
    Medicine (Baltimore) 2017 Dec;96(49):e8591
    aDepartment of Medical Genetics, Naval Medical University, Shanghai 200433, ChinabHebei North University, Zhangjiakou, Hebei Province, ChinacDepartment of Gastroenterology, Airforce General Hospital of PLA, Beijing, China.
    Rationale: Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigmentation and intussusception due to GI polyps in childhood. Read More

    A giant and extensive solitary Peutz-Jeghers-type polyp in the antrum of stomach: Case report.
    Medicine (Baltimore) 2017 Dec;96(49):e8466
    aDepartment of Gastroenterology, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, ChinabDepartment of Gastroenterology, Xi'an Children's Hospital, Xi'an, Shaanxi, China.
    Rationale: A solitary Peutz-Jeghers-type polyp is a hamartomatous polyp which without either mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome (PJS). It can occur in all of the gastrointestinal tract, but it is extremely rare in the stomach.

    Patient Concerns: A 53-year-old man was admitted to the local hospital with left upper abdominal pain lasting 2 weeks. Read More

    Whole-exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets.
    J Pathol 2018 Mar 5;244(3):358-366. Epub 2018 Feb 5.
    Bio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, PR China.
    Oral mucosal melanoma (OMM) is a rare and aggressive subtype of melanoma with little known about its pathogenesis or carcinogenesis. We therefore performed whole-exome sequencing (WES) on 19 matched OMM tumor/normal pairs in order to gain insight into potential genetic drivers of tumor formation. For the first time, we describe the comprehensive mutational profile of OMM. Read More

    Aging and neurodegeneration are associated with increased mutations in single human neurons.
    Science 2018 02 7;359(6375):555-559. Epub 2017 Dec 7.
    Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
    It has long been hypothesized that aging and neurodegeneration are associated with somatic mutation in neurons; however, methodological hurdles have prevented testing this hypothesis directly. We used single-cell whole-genome sequencing to perform genome-wide somatic single-nucleotide variant (sSNV) identification on DNA from 161 single neurons from the prefrontal cortex and hippocampus of 15 normal individuals (aged 4 months to 82 years), as well as 9 individuals affected by early-onset neurodegeneration due to genetic disorders of DNA repair (Cockayne syndrome and xeroderma pigmentosum). sSNVs increased approximately linearly with age in both areas (with a higher rate in hippocampus) and were more abundant in neurodegenerative disease. Read More

    In vivo toxic effects of 4-methoxy-5-hydroxy-canthin-6-one in zebrafish embryos via copper dyshomeostasis and oxidative stress.
    Comp Biochem Physiol C Toxicol Pharmacol 2018 Jan 5;204:79-87. Epub 2017 Dec 5.
    State Key Laboratory of Innovative Natural Medicines and TCM Injections, Jiangxi Qingfeng Pharmaceutical Co., Ltd., Ganzhou 341000, Jiangxi, China.
    Dysfunction of copper homeostasis can lead to a host of disorders, which might be toxic sometimes. 4-Methoxy-5-hydroxy-canthin-6-one (CAN) is one of the major constituents from Picrasma quassioides and responsible for its therapeutic effects. In this work, we evaluated the toxic effect of CAN (7. Read More

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