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Nelva Karmila Jusuf - One of the best experts on this subject based on the ideXlab platform.

  • pattern of Pigmentation Disorder in cosmetic dermatology clinic h adam malik general hospital medan 2012 2015
    Journal of General-Procedural Dermatology & Venereology Indonesia, 2017
    Co-Authors: Nelva Karmila Jusuf
    Abstract:

    Background:  Abnormalities of Pigmentation is a cosmetic problem which affects the overall appearance of an individual. Pigmentation Disorder are caused by the increase (hypermelanosis) or the decrease (hypomelanosis) amount of melanin. Objective:  To determine the pattern of Pigmentation Disorder in Cosmetic Dermatology Clinic H. Adam Malik General Hospital Medan in 2012-2015. Methods:  A retrospective study using subject's medical records from the Cosmetic Dermatology Clinic H. Adam Malik General Hospital Medan in 2012 - 2015, presented descriptively. Results:  In 2012 - 2015 the number of patients who visited the Cosmetic Dermatology Clinic were respectively 210, 228, 211, 142. Hypermelanosis were found respectively in 24.76%, 16.20%, 12.79%, 5.63%. Whereas hypomelanosis were found 18.10%, 9.21%, 8.53%, 8.45%. During 2012 - 2015 melasma was the most common Disorder found among hypermelanosis group, followed by post inflammatory hyperPigmentation. Meanwhile vitiligo was the only diagnosis in hypomelanosis group. Each year most of the Pigmentation Disorder patients came from the age group 38-48 years old except in 2015. Women were more affected than men.  Conclusion:  In 2012-2014, the largest proportion of Pigmentation Disorder were hypermelanosis, mostly melasma. In 2015, it was hypomelanosis with vitiligo as the diagnosis. Keywords:  Pigmentation Disorder, cosmetic division, retrospective

  • Pattern of Pigmentation Disorder in Cosmetic Dermatology Clinic H. Adam Malik General Hospital, Medan, 2012 - 2015
    Universitas Indonesia, 2017
    Co-Authors: Nelva Karmila Jusuf
    Abstract:

    Background: Abnormalities of Pigmentation is a cosmetic problem which affects the overall appearance of an individual. Pigmentation Disorder are caused by the increase (hypermelanosis) or the decrease (hypomelanosis) amount of melanin. Objective: To determine the pattern of Pigmentation Disorder in Cosmetic Dermatology Clinic H. Adam Malik General Hospital Medan in 2012-2015.Methods: A retrospective study using subject’s medical records from the Cosmetic Dermatology Clinic H. Adam Malik General Hospital Medan in 2012 – 2015, presented descriptively.Results: In 2012 – 2015 the number of patients who visited the Cosmetic Dermatology Clinic were respectively 210, 228, 211, 142. Hypermelanosis were found respectively in 24.76%, 16.20%, 12.79%, 5.63%. Whereas hypomelanosis were found 18.10%, 9.21%, 8.53%, 8.45%. During 2012 – 2015 melasma was the most common Disorder found among hypermelanosis group, followed by post inflammatory hyperPigmentation. Meanwhile vitiligo was the only diagnosis in hypomelanosis group. Each year most of the Pigmentation Disorder patients came from the age group 38-48 years old except in 2015. Women were more affected than men. Conclusion: In 2012-2014, the largest proportion of Pigmentation Disorder were hypermelanosis, mostly melasma. In 2015, it was hypomelanosis with vitiligo as the diagnosis

M & Power - One of the best experts on this subject based on the ideXlab platform.

  • Understanding pseudo-albinism in sole (Solea senegalensis): a transcriptomics and metagenomics approach
    Nature Communications, 2019
    Co-Authors: P. I. S., C. Codoñer, F M., M & Power
    Abstract:

    Pseudo-albinism is a Pigmentation Disorder observed in flatfish aquaculture with a complex, multi-factor aetiology. We tested the hypothesis that Pigmentation abnormalities are an overt signal of more generalised modifications in tissue structure and function, using as a model the Senegalese sole and two important innate immune barriers, the skin and intestine, and their microbiomes. Stereological analyses in pseudo-albino sole revealed a significantly increased mucous cell number in skin (P < 0.001) and a significantly thicker muscle layer and lamina propria in gut (P < 0.001). RNA-seq transcriptome analysis of the skin and gut identified 573 differentially expressed transcripts (DETs, FDR < 0.05) between pseudo-albino and pigmented soles (one pool/tissue from 4 individuals/phenotype). DETs were mainly linked to pigment production, skin structure and regeneration and smooth muscle contraction. The microbiome (16 S rRNA analysis) was highly diverse in pigmented and pseudo-albino skin but in gut had low complexity and diverged between the two Pigmentation phenotypes. Quantitative PCR revealed significantly lower loads of Mycoplasma (P < 0.05) and Vibrio bacteria (P < 0.01) in pseudo-albino compared to the control. The study revealed that pseudo-albinism in addition to Pigmentation changes was associated with generalised changes in the skin and gut structure and a modification in the gut microbiome.Pseudo-albinism is a Pigmentation Disorder observed in flatfish aquaculture with a complex, multi-factor aetiology. We tested the hypothesis that Pigmentation abnormalities are an overt signal of more generalised modifications in tissue structure and function, using as a model the Senegalese sole and two important innate immune barriers, the skin and intestine, and their microbiomes. Stereological analyses in pseudo-albino sole revealed a significantly increased mucous cell number in skin (P < 0.001) and a significantly thicker muscle layer and lamina propria in gut (P < 0.001). RNA-seq transcriptome analysis of the skin and gut identified 573 differentially expressed transcripts (DETs, FDR < 0.05) between pseudo-albino and pigmented soles (one pool/tissue from 4 individuals/phenotype). DETs were mainly linked to pigment production, skin structure and regeneration and smooth muscle contraction. The microbiome (16 S rRNA analysis) was highly diverse in pigmented and pseudo-albino skin but in gut had low complexity and diverged between the two Pigmentation phenotypes. Quantitative PCR revealed significantly lower loads of Mycoplasma (P < 0.05) and Vibrio bacteria (P < 0.01) in pseudo-albino compared to the control. The study revealed that pseudo-albinism in addition to Pigmentation changes was associated with generalised changes in the skin and gut structure and a modification in the gut microbiome.

Deborah M. Power - One of the best experts on this subject based on the ideXlab platform.

  • Understanding pseudo-albinism in sole (Solea senegalensis): a transcriptomics and metagenomics approach
    Scientific Reports, 2019
    Co-Authors: Patricia I. S. Pinto, Cláudia C. Guerreiro, Rita A. Costa, Juan F. Martinez-blanch, Carlos Carballo, Francisco M. Codoñer, Manuel Manchado, Deborah M. Power
    Abstract:

    Pseudo-albinism is a Pigmentation Disorder observed in flatfish aquaculture with a complex, multi-factor aetiology. We tested the hypothesis that Pigmentation abnormalities are an overt signal of more generalised modifications in tissue structure and function, using as a model the Senegalese sole and two important innate immune barriers, the skin and intestine, and their microbiomes. Stereological analyses in pseudo-albino sole revealed a significantly increased mucous cell number in skin ( P  

Masashi Akiyama - One of the best experts on this subject based on the ideXlab platform.

  • pigmented macules in waardenburg syndrome type 2 due to kitlg mutation
    Pigment Cell & Melanoma Research, 2017
    Co-Authors: Yasushi Ogawa, Michihiro Kono, Masashi Akiyama
    Abstract:

    Summary We report a patient with Waardenburg syndrome (WS) type 2 who had the unusual complication of large pigmented macules. Whole-exome sequencing revealed a previously unreported homozygous KITLG mutation to be the causative gene. KITLG defect is a rare cause of WS, with only one case having been reported previously. Interestingly, both the previously reported case and the present case had large pigmented macules (cafe-au-lait spots). Importantly, KITLG mutations are causative of another Pigmentation Disorder, namely familial progressive hyper- and hypoPigmentation (FPHH), which may also be accompanied by pigmented macules. The KITLG mutation in the present case is adjacent to strikingly restricted hotspots of mutations causative of FPHH. Our thorough literature review revealed that large pigmented macules are a very rare symptom of WS, raising the possibility that WS caused by KITLG mutations may represent a hitherto unnoticed phenotypic subgroup. The present findings extend our knowledge of the KIT/KITLG system. This article is protected by copyright. All rights reserved.

  • whole exome sequencing identifies adam10 mutations as a cause of reticulate acroPigmentation of kitamura a clinical entity distinct from dowling degos disease
    Human Molecular Genetics, 2013
    Co-Authors: Michihiro Kono, Kazumitsu Sugiura, Mutsumi Suganuma, Masahiro Hayashi, Hiromichi Takama, Tamio Suzuki, Kayoko Matsunaga, Yasushi Tomita, Masashi Akiyama
    Abstract:

    Reticulate acroPigmentation of Kitamura (RAK) is a rare genetic Disorder of cutaneous Pigmentation with an autosomal dominant pattern of inheritance and a high penetration rate. The characteristic skin lesions are reticulate, slightly depressed pigmented macules mainly affecting the dorsa of the hands and feet, which first appear before puberty and subsequently expand to the proximal limb and the trunk. To identify mutations that cause RAK, we performed exome sequencing of four family members in a pedigree with RAK. Fifty-three SNV/Indels were considered as candidate mutations after some condition narrowing. We confirmed the mutation status in each candidate gene of four other members in the same pedigree to find the gene that matched the mutation status and phenotype of each member. A mutation in ADAM10 encoding a zinc metalloprotease, a disintegrin and metalloprotease domain-containing protein 10 (ADAM10), was identified in the RAK family. ADAM10 is known to be involved in the ectodomain shedding of various substrates in the skin. Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations. We identified a total of three truncating mutations, a splice site mutation and a missense mutation in ADAM10. We searched for mutations in the KRT5 gene, a causative gene for the similar Pigmentation Disorder Dowling-Degos disease (DDD), in all the patients and found no KRT5 mutation. These results reveal that mutations in ADAM10 are a cause of RAK and that RAK is an independent clinical entity distinct from DDD.

Jihye Park - One of the best experts on this subject based on the ideXlab platform.

  • a case of generalized argyria presenting with muscle weakness
    Annals of occupational and environmental medicine, 2017
    Co-Authors: Inha Jung, Joonsup Yeom, Juyeon Choi, Jihye Park
    Abstract:

    Argyria is a rare irreversible cutaneous Pigmentation Disorder caused by prolonged exposure to silver. Herein, we report a case of generalized argyria that developed after chronic ingestion of soluble silver-nano particles and presented with muscle weakness. A 74-year-old woman visited our emergency room, complaining of fever and mental deterioration. She was diagnosed with acute pyelonephritis and recovered after antibiotic therapy. At presentation, diffuse slate gray-bluish pigmented patches were noticed on her face and nails. Two months prior to visiting our hospital, she was diagnosed with inflammatory myopathy and given steroid therapy at another hospital. We performed a nerve conduction study that revealed polyneuropathy. In skin biopsies from pigmented areas of the forehead and nose, the histopathologic results showed brown-black granules in basement membranes of sweat gland epithelia, which are diagnostic findings of argyria. We reviewed pathology slides obtained from the left thigh muscles and found markedly degenerated myofibers with disorganization of myofibrils without inflammatory reactions, consistent with unspecified myopathy, rather than inflammatory myopathy. The patient was diagnosed with generalized argyria with polyneuropathy and myopathy and transferred to a rehabilitation institution after being tapered off of steroids. Clinicians should be aware of clinical manifestations of argyria and consider it in differential diagnosis when they examine patients who present with skin Pigmentation and muscle weakness.

  • A case of generalized argyria presenting with muscle weakness
    BMC, 2017
    Co-Authors: Inha Jung, Joonsup Yeom, Juyeon Choi, Eun-jeong Joo, Byung Seong Suh, Cheol-bae Ham, Ji-min Han, You-gyung Kim, Jihye Park
    Abstract:

    Abstract Background Argyria is a rare irreversible cutaneous Pigmentation Disorder caused by prolonged exposure to silver. Herein, we report a case of generalized argyria that developed after chronic ingestion of soluble silver-nano particles and presented with muscle weakness. Case presentation A 74-year-old woman visited our emergency room, complaining of fever and mental deterioration. She was diagnosed with acute pyelonephritis and recovered after antibiotic therapy. At presentation, diffuse slate gray-bluish pigmented patches were noticed on her face and nails. Two months prior to visiting our hospital, she was diagnosed with inflammatory myopathy and given steroid therapy at another hospital. We performed a nerve conduction study that revealed polyneuropathy. In skin biopsies from pigmented areas of the forehead and nose, the histopathologic results showed brown-black granules in basement membranes of sweat gland epithelia, which are diagnostic findings of argyria. We reviewed pathology slides obtained from the left thigh muscles and found markedly degenerated myofibers with disorganization of myofibrils without inflammatory reactions, consistent with unspecified myopathy, rather than inflammatory myopathy. The patient was diagnosed with generalized argyria with polyneuropathy and myopathy and transferred to a rehabilitation institution after being tapered off of steroids. Conclusions Clinicians should be aware of clinical manifestations of argyria and consider it in differential diagnosis when they examine patients who present with skin Pigmentation and muscle weakness