Determinação da atividade antitirosinase e antioxidante de Myrsine coriacea (Sw. ) R. Br. ex Roem. & Schult. (Primulaceae) / Determination of the antityrosinase and antioxidant activity of Myrsine coriacea (Sw. ) R. Br. ex Roem. & Schult. (Primulaceae)

myrsine coriacea (Sw.) R. Br. ex Roem. & Schult. (Primulaceae) conhecida popularmente como capororoquinha ou capororoca, é amplamente distribuída nas regiões sul e sudeste do Brasil. As espécies desse gênero apresentam um potencial antioxidante e anti-inflamatório, que pode ser acessado na busca de novos ativos para o tratamento de desordens pigmentares da pele. Desta forma, este trabalho teve como objetivos avaliar o potencial antitirosinase e antioxidante de extratos e frações de M. coriacea e identificar os possíveis compostos responsáveis por essas atividades. Foram realizados ensaios para avaliar o potencial antioxidante das amostras através do método do DPPH, enquanto a capacidade hipopigmentante das amostras foi avaliado pela inibição da enzima tirosinase. Como complemento, foram determinados os teores de compostos fenólicos totais e flavonoides através dos métodos colorimétricos empregando o reagente Folin-Ciocalteau e AlCl3. Adicionalmente, os extratos de M. coriacea tiveram avaliados seus potenciais citotóxicos utilizando diferentes linhagens tumorais humanas. O perfil fitoquímico de M. coriacea foi analisado por cromatografia a gás acoplada com espectrometria de massas (CG-EM) e cromatografia em camada delgada (CCD) com padrões. Nessas análises foram identificados 34 compostos, sendo o ácido palmítico e o palmitato de etila os compostos majoritários nas amostras de M. coriacea. O extrato bruto das folhas apresentou o maior teor de fenólicos totais, enquanto a fração de acetato de etila das folhas teve o maior teor de flavonoides. Contudo, o extrato bruto dos frutos apresentou a melhor atividade antioxidante de todas as amostras analisadas, apresentando também a melhor atividade antitirosinase. Dentre os compostos anotados, mandenol, ácido -linoleico e o linolenato de etila foram os compostos considerados como possíveis inibidores da tirosinase, com boa interação molecular com a enzima nas análises de ancoragem molecular in silico. Das amostras analisadas com relação a inibição de crescimento frente as células tumorais, a amostra da fração de clorofórmio das folhas foi a que apresentou potencial antitumoral frente as células de adenocarcinoma de cólon (HCT116)

myrsine coriacea (Sw.) R. Br. ex Roem. & Schult. (Primulaceae) popularly known as capororoquinha or capororoca, is widely distributed in southern and southeastern Brazil. Myrsine species have an antioxidant and anti-inflammatory potential, which can be accessed in the search for new actives for the treatment of skin pigmentation disorders. Thus, this work aimed to evaluate the antityrosinase and antioxidant potential from extracts and fractions of M. coriacea and to identify the probable compounds responsible for these activities. Assays were performed to evaluate the antioxidant potential of the samples using the DPPH method, while the hypopigmentation capacity of the samples was evaluated by the tyrosinase inhibition. As a complement, the amounts of total phenolic compounds and flavonoids were determined through colorimetric methods using the Folin-Ciocalteau reagent and AlCl3. Additionally, M. coriacea extracts had their cytotoxic potential evaluated using different human tumor cell lines. M. coriacea phytochemical profile was obtained by gas chromatography coupled with mass spectrometry (GC-MS) and thin layer chromatography (TLC) with standards. In these analyses, 34 compounds were identified, with palmitic acid and ethyl palmitate as the major compounds in M. coriacea samples. The leaf crude extract presented the highest total phenolics contents, while the leaf ethyl acetate fraction had the highest flavonoid amounts. However, the fruit crude extract showed the best antioxidant and antityrosinase activities of all analyzed samples. Among the annotated compounds, mandenol, -linoleic acid and ethyl linolenate were the compounds considered as putative tyrosinase inhibitors, presenting good molecular interaction with the enzyme active site in the in silico molecular docking analysis. The leaf chloroform fraction was the only sample that showed an antitumor potential against colon adenocarcinoma cells (HCT116)

Atypical and unusual clinical presentation of atopic dermatitis: A case report / Apresentação clínica atípica e incomum de dermatite atópica: relato de caso

Atopic Dermatitis, also called atopic eczema, is a complex systemic inflammatory disease with heterogeneous clinical morphologies. Common features are eczematous lesions, intense pruritus and chronic or relapsing disease course. Eczematous lesions typically show an age-related distribution. However, this disease can present different phenotypes, like follicular/papular dermatitis and prurigo nodularis. We reported a male, 22 years old, phototype IV, African descent, with personal and familial history of atopy. He reported pruritus, xerosis and lesions on skin since he was 2 years-old, with relapsing and chronic course. Clinical examination showed disseminated perifollicular accentuation and rough follicular papules. Extensor surfaces of the legs showed excoriated papules and nodules, beside generalized post-inflammatory hypopigmentation. He had lichenified plaques on the back, neck, hands and foot. Skin biopsy showed spongiosis, parakeratosis and irregular acanthosis at the epidermis. The diagnosis was late and occurred only in adulthood. Due to the extensive and relapsing presentation, he received Cyclosporin 3 mg/Kg/day, associated to steroids and emollients, with improvement of pruritus, xerosis and lechinification. But he maintained perifollicular accentuation. The patient presented common features of Atopic Dermatitis, like chronic and relapsing lesions, history of atopic, dry skin, pruritus, and early disease onset. However, atypical morphologies were presented, exemplified by prurigo nodularis and follicular/papular dermatitis. Other relevant finding it was the fact that the lesions occurred outside the classic areas, with prevalence on extensor surfaces and trunk. These atypical morphologies and unusual location of lesions are prevalent on adults with high phototypes, as seen in this case. It is essential to identify these challenging phenotypes, because the diagnosis of Atopic Dermatitis is clinical. Given the diversity of clinical presentation and difficult to recognize some cases, this article will contribute to demonstrate atypical manifestations and common features in non-white patients, facilitating correct diagnosis and early treatment.

A dermatite atópica, também chamada de eczema atópico, é uma doença inflamatória sistêmica complexa, com morfologias clínicas heterogêneas. As características comuns são lesões eczematosas, prurido intenso e curso crônico ou recidivante. Lesões eczematosas geralmente mostram uma distribuição relacionada à idade. No entanto, essa doença pode apresentar diferentes fenótipos, como dermatite folicular/papular e prurigo nodular. Relatamos um homem, 22 anos, fototipo IV, afrodescendente, com história pessoal e familiar de atopia. Referia prurido, xerose e lesões na pele desde os 2 anos, com recidiva e curso crônico. O exame clínico mostrou acentuação perifolicular disseminada e pápulas foliculares ásperas. As superfícies extensoras das pernas apresentavam pápulas e nódulos escoriados, além de hipopigmentação pós-inflamatória generalizada. Notaram-se placas liquenificadas no dorso, pescoço, mãos e pés. A biópsia de pele demonstrou espongiose, paraqueratose e acantose irregular na epiderme. O diagnóstico foi tardio e ocorreu apenas na idade adulta. Devido ao quadro clínico extenso e recidivante, recebeu Ciclosporina 3 mg/Kg/dia, associada a esteroides e emolientes, com melhora de prurido, xerose e liquenificação, mas manteve a acentuação perifolicular. O paciente apresentava características comuns de dermatite atópica, como lesões crônicas e recidivantes, história de atopia, pele seca, prurido e início precoce da doença, no entanto, foram apresentadas morfologias atípicas, exemplificadas por prurigo nodular e dermatite folicular/papular. Outro achado relevante foi o fato das lesões localizarem-se em áreas não clássicas da doença, com predomínio nas superfícies extensoras e tronco. Essas morfologias atípicas e localizações incomuns são prevalentes em adultos com fototipos elevados, como visto neste caso. É essencial identificar esses fenótipos desafiadores, porque o diagnóstico de dermatite atópica é clínico. Devido à diversidade de apresentações clínicas e dificuldade de reconhecimento de alguns casos, este artigo contribuirá para demonstrar manifestações atípicas e características comuns em pacientes não brancos.

Hipomelanosis macular progresiva: comunicación de un caso y revisión de la literatura científica / Progressive macular Hypomelanosis: case report andr review of scientic literature

La hipomelanosis macular progresiva es un trastorno adquirido de la pigmentación que aparece con más frecuencia en mujeres, adolescentes y adultas jóvenes. Se caracteriza por máculas hipopigmentadas asintomáticas, mal delimitadas, no descamativas, simétricas y de predominio en región lumbar. El estudio histopatológico evidencia disminución del contenido de melanina en la epidermis afectada, con número y distribución de los melanocitos conservados. En su etiopatogenia interviene el Cutibacterium acnes tipo III, bacteria responsable de la característica fluorescencia rojiza de distribución folicular que se observa con la lámpara de Wood. Por este motivo, los tratamientos propuestos incluyen el uso de tetraciclinas por vía oral y tratamientos tópicos como el peróxido de benzoílo, asociados a fototerapia UVA o UVB de banda angosta. Se presenta una paciente con hipomelanosis macular progresiva del tronco que respondió satisfactoriamente al tratamiento con doxiciclina vía oral

Progressive macular hypomelanosis is an acquired pigmentation disorder that occurs mostly in adolescent and young women. It is characterized by asymptomatic, poorly defined, non-scaly, symmetrical hypopigmented macules localized predominantly in the lumbar area. Histopathology shows a decrease in melanin content with preserved number and distribution of melanocytes in the affected epidermis. Cutibacterium acnes type III appears to be the responsible for the dermatosis and for the characteristic reddish fluorescence of follicular distribution observed with Wood´s lamp. Treatment include oral tetracyclines and topical benzoyl peroxide associated with UVA or narrow band UVB phototherapy. We present a patient with progressive macular hypomelanosis of the trunk with excellent response to treatment with oral doxycycline

Reporte de un caso: eritema discrómico perstans en paciente con diagnóstico de virus de inmunodeficiencia humana / Case report: dyschromic erythema perstans in a patient diagnosed with human immunodeficiency virus

El eritema discrómico perstans o dermatitis cenicienta, es un trastorno pigmentario de la piel poco común, de etiología desconocida. Se describe el caso de un adulto de 35 años con antecedente de VIH, quien consulta por aparición de lesiones irregulares, bien definidas café-grises localizadas en cuello, área mandibular inferior, espalda y brazos, de borde levemente eritematoso. El diagnóstico de eritema discrómico perstans se realizó con base en los hallazgos clínicos e histopatológicos.

Erythema dyschromicum perstans also known as ashy dermatosis is a rare skin pigmentary disorder of unknown etiology. We describe the case of a 35-year-old man HIV positive who presented irregular, well defined brown-gray lesions with slightly erythematous border located in neck, lower jaw, back and arms. Diagnosis of erythema dyschromicum perstans in this patient was made based on clinical and histopathological criteria.

Autofluorescência em um caso de distrofia macular anular concêntrica benigna / Fundus autofluorescence in a case of benign concentric annular macular dystrophy

Resumo A distrofia macular anular concêntrica benigna (DMACB) é uma patologia retiniana rara e provavelmente subdiagnosticada em nosso meio, que se caracteriza por um defeito retiniano em bull's eye sem uso prévio de antimaláricos, associado à preservação relativa da acuidade visual. Devido à escassez de publicações sobre o tema, existem poucos dados referentes aos resultados dos exames complementares nesta patologia. No presente artigo, apresenta-se a descrição da autofluorescência em um caso clássico de DMACB, ainda inédita na literatura, podendo acrescentar achados importantes para auxiliar no diagnóstico e seguimento da doença.

Abstract The benign concentric annular macular dystrophy (BCAMD) is a very rare and probably underdiagnosed eye disease, characterized by a retinal fault in bull's eye pattern, without the association with antimalarial use, but related with good visual acuity. Since there aren't many publications about this condition, is hard to find data regarding the results of complementary examination. In this article, is presented the description of fundus autofluorescence in a classic BCAMD case, yet unpublished, and capable of helping the diagnosis and follow-up of this pathology.

Fase acelerada da síndrome de Chediak-Higashi: revisão de literatura / Accelerated phase of Chediak-Higashi syndrome: review of literature

Indivíduos afetados pela síndrome de Chediak-Higashi se apresentam clinicamente com diversas alterações orgânicas, a partir de mutações que afetam a função fagocitária e do gene regulador do tráfego lisossomal. A forma acelerada da síndrome cursa com uma série de alterações hematológicas e sistêmicas, sendo grave e usualmente incorrendo em morte precoce. O objetivo do artigo foi realizar uma pesquisa na literatura acerca da fase acelerada da síndrome de Chediak-Higashi. Foi realizada a busca nas bases de dados: PubMed, The Cochrane Library e SciELO, por estudos em humanos publicados em inglês, espanhol ou português nos últimos 15 anos. Devido a seu nível de gravidade, a síndrome de Chediak-Higashi demonstra a importância de seu conhecimento pelos profissionais médicos a fim de reduzir o número de subdiagnósticos, consequentemente diminuindo as taxas de mortalidade e promovendo melhora na qualidade de vida de seus portadores.

Individuals affected by Chediak-Higashi syndrome present themselves clinically with several organic alterations, from mutations that affect the phagocytic and the functions of the lysosomal traffic regulator gene. The accelerated form of the syndrome presents with a series of hematological and systemic alterations, being serious and usually incurring in early death. The objective of this paper was to develop a literature review about the accelerated phase of Chediak-Higashi syndrome. The source was developed at the following databases: PubMed, The Cochrane Library, and SciELO, being included human studies published in English, Spanish or Portuguese in the last 15 years. Due to its severity, Chediak-Higashi syndrome demonstrates the importance of its knowledge by medical professionals in order to reduce the number of underdiagnostics, consequently reducing mortality rates and promoting improvement in the quality of life of the patients.

Thorax masculinization in a transsexual patient: Inferior pedicle mastectomy without an inverted T scar

Transsexual individuals with gender dysphoria or gender identity disorder are rare, with a prevalence reported to range from 0.002% to 0.014%. Studies have shown that mastectomy yields significant improvements in body image and self-esteem in female-to-male transsexual patients. In patients with grade III breast ptosis, mastectomy with a nipple-areolar complex (NAC) graft is the most commonly used technique, although it has several disadvantages. In the case described herein, a bilateral mastectomy preserving the NAC in an inferior pedicle was performed. Additionally, a thin superior thoracic dermal-fat flap was preserved and eventually sutured at the previous inframammary fold, preventing an inverted T scar. This case shows the advantage of this technique for preserving the blood supply and innervation of the NAC, with a low hypopigmentation risk. Furthermore, in this technique, the patch effect does not impair the results of the NAC graft, and there is no need to use an inverted T scar that may result in thoracic feminization.

Hypomelanosis of Ito with Multiple Congenital Anomalies

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

Atypical Pattern of Choroidal Hypopigmentation with Cutaneous Vitiligo

No abstract available.

Depigmentation in a Patient with Chronic Myeloid Leukemia during Chemotherapy with Dasatinib / 대한피부과학회지

No abstract available.

Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos / Clinical and epidemiological findings in neurofibromatosis type 1 and tuberous sclerosis complex in a series of pediatric patients

Resumen: Introducción: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes. Métodos: Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad. Resultados: Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos. Conclusiones: Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar.

Abstract: Background: Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes. Methods: This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity. Results: We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases. Conclusions: This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.

Patrón cutáneo pigmentario de disposición lineal en un niño, vitíligo segmentario vs. hipomelanosis de Ito / Linear disposition pigmentary skin pattern in a child, segmental vitiligo vs. Hypomelanosis of Ito

Introducción: algunas enfermedades dermatológicas siguen disposición con patrones lineales. Con hipopigmentación en la infancia se encuentran el vitíligo segmentario, que sigue los dermatomas, aunque puede seguir las líneas de Blaschko y la hipomelanosis de Ito, que a su vez sigue las líneas de Blaschko. Estas dermatosis son infrecuentes en la práctica dermatólogica. Objetivo: profundizar en los elementos diagnósticos que permiten diferenciar dos dermatosis clínicamente caracterizadas por hipopigmentación segmentaria lineal de tipo blaschkoide y el tratamiento. Presentación del caso: a la consulta de Genodermatosis en Las Tunas acude un niño con máculas acrómicas en hemicuerpo izquierdo, sin otras alteraciones. Después de ser evaluado por varias especialidades (Dermatología, Genética, Pediatría, Oftalmología y Neurología), se determina que solo presentaba afectación cutánea, se le realizó biopsia de piel, que corroboró el diagnóstico de vitíligo segmentario. Conclusiones: se presenta el caso porque el vitíligo segmentario es infrecuente, sigue un patrón lineal que puede ser diferenciado de otra dermatosis infrecuente, como la hipomelanosis de Ito, y en el tratamiento es importante brindar apoyo psicológico al paciente para favorecer la obtención de mejores resultados con la Melagenina Plus(AU)

Introduction: some dermatological diseases are still available with linear patterns. In childhood with hypopigmentation can be found segmental vitiligo (which follows the dermatomes although it can follow the lines of Blaschko), and Hypomelanosis of Ito (which in turn follows the lines of Blaschko). These dermatoses are infrequent in dermatological practice. Objective: to deepen into the diagnostic elements that allows the differentiation of two dermatoses clinically characterized by linear segmental hypopigmentation of blaschkoid type and treatment. Case presentation: a child attends to the consultation of Genodermatoses in Las Tunas presenting acromic macules in left half of the body, without other alterations. After being evaluated by several specialties (Dermatology, Genetics, Pediatrics, Ophthalmology and Neurology), it was determined that only skin affectation was present. A skin biopsy was performed, which corroborated the diagnosis of segmental vitiligo. Conclusions: The case is presented because segmental vitiligo is infrequent, it follows a linear pattern that can be differentiated from another uncommon dermatosis, such as Hypomelanosis of Ito, and in the treatment it is important to provide psychological support to the patient to favor obtaining better results with Melagenina Plus(AU)

A Case of a Visual Field Defect with Optical Coherence Tomography Changes after Sildenafil Citrate Overdose

PURPOSE: A case of a transient visual field defect and a change in spectral-domain optical coherence tomography (SD-OCT) after an overdose of sildenafil citrate is described. CASE SUMMARY: A 67-year-old male with no previous medical history presented with a bluish tinge and visual field defect in both eyes. He had consumed eight tablets of sildenafil citrate (800 mg) 3 days before the visit. His best-corrected visual acuity was 14/20 in the right eye and 20/20 in the left eye. No specific finding was noted on slit-lamp examination. Fundus examination and fundus photography revealed focal foveal hypopigmentation in both eyes. He underwent SD-OCT imaging with the Cirrus HD-OCT (Carl Zeiss Meditec, Oberkochen, Germany), and thickening of the ellipsoid zone and choroid was revealed by SD-OCT scans. He was advised not to take any more sildenafil citrate and was followed for 1 week after the first visit. Central scotomas of both eyes were revealed by a visual field test, and thickening of the ellipsoid zone and choroid remained. His eyes were re-evaluated 1 and 3 months after the first visit, and although the symptoms nearly disappeared, abnormalities in the visual field test and on SD-OCT remained, albeit with some degree of improvement. He revisited us 4 months after the first visit, at which time the visual field test and SD-OCT scans showed results within normal ranges. CONCLUSIONS: Sildenafil citrate overdose can result in a color anomaly (bluish tinge), visual field defects, and thickening of the ellipsoid zone and choroid on SD-OCT scans.

Proper use of topical corticosteroids

Topical corticosteroids are widely prescribed and used. As interest in the use of corticosteroids grows, people are increasingly exposed to misinformation that causes an excessive fear of side effects. Topical corticosteroids mainly have vasoconstrictive, anti-inflammatory, immunosuppressive, and anti-proliferative effects. Corticosteroids are prescribed based on the patient's age, the site and severity of the lesion, and patient compliance. Adverse reactions include skin atrophy, telangiectasia, hypopigmentation, and steroid-induced acne. To prevent the side effects of topical corticosteroids and to minimize phobias about topical corticosteroids in the future, we suggest providing proper information and education for both physicians and patients about the safety, efficacy, and proper use of topical steroids. In this article, we review basic information about topical corticosteroids and guidelines for their use.

Artemisia capillaris Thunb. inhibits melanin synthesis activity via ERK-dependent MITF pathway in B16/F10 melanoma cells / 대한수의학회지

Genus Artemisia occurs as a hardy plant and has a wide range of culinary and medicinal features. In this study, we aimed to describe the melanin inhibitory activity of one Artemisia species, i.e., Artemisia capillaris Thunb. Ethanol extracts of fermented Artemisia capillaris (Art.EtOH.FT) and non-fermented Artemisia capillaris (Art.EtOH.CT) were tested for their ability to inhibit tyrosinase activity and melanin pigmentation. Both extracts showed dose-dependent inhibition against α-melanocyte stimulating hormone-stimulated melanin formation and tyrosinase activity, without cytotoxicity. At 100 µg/mL, both extracts showed greater inhibition than kojic acid, the positive control. Protein expressions of microphthalmia-associated transcription factor (MITF), tyrosinase (TYR), tyrosinase-related protein 1 (TRP-1), and tyrosinase-related protein 2 (TRP-2) at the transcriptional level were determined by using real-time and semi-quantitative polymerase chain reaction. To complete the mechanistic study, presences of upstream elements of MITF, the phosphorylated-extracellular signal-regulated kinase (p-ERK), and phosphorylated-mitogen-activated protein kinase kinase (p-MEK) were confirmed by using western blot analysis. Expressions of p-TYR, p-TRP-1 and p-TRP-2, downstream factors for p-ERK and p-MITF, were translationally inhibited by both extracts. Art.EtOH.FT induced more potent effects than Art.EtOH.CT, especially signal transduction effects. In summary, Artemisia capillaris extracts appear to act as potent hypopigmentation agents.

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. Methods: Histopathological and immunohistochemical analysis of lesions from the proband was performed. The KITLG gene was screened for the presence of mutations. Results: A Chinese family containing 14 individuals with FPHH was described, and the proband was a 5-year-old girl showing diffuse hyper- and hypopigmented lesions on her extremities and trunk. Histopathological and immunohistochemical staining for S100 and HMB45 of skin biopsy specimens from the hyperpigmented areas showed a striking increase in melanin throughout the epidermis, especially in the basal cell layer, and staining of hypopigmented area specimens displayed lower levels of melanin in the epidermis. Mutation analysis of the KITLG gene was performed, but no mutation was found. Study limitations: The new pathogenic gene was not found. Conclusion: A family with FPHH was described. Analysis revealed that its members did not have any mutations of the KITLG gene, which provided evidence for genetic heterogeneity of this genodermatosis.

A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.

Treatment of Laser Therapy-Induced Punctate Leukoderma Using a 308-nm Excimer Laser

Punctate leukoderma presents as numerous, distinct, round or oval depigmented spots. Recently, laser therapy-induced punctate leukoderma associated with various Q-switched laser and carbon dioxide laser have been reported. A 25-year-old man presented with numerous, discrete, round, confetti-like, depigmented macules on his left neck. He had undergone 3 sessions of 532-nm Q-switched Neodymium: Yttrium-Aluminum-Garnet laser treatment for café-au-lait macules three years ago. After the last laser treatment session, the punctate leukoderma had been developed. We started treatment with the 308-nm excimer laser twice a week. After 7 months of treatment duration, complete repigmentation was achieved without serious adverse effects. We recommend the 308-nm excimer laser as an effective treatment modality for laser therapy-induced punctate leukoderma.