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https://www.readbyqxmd.com/read/27666198/nagashima-type-palmoplantar-keratosis-in-a-chinese-han-population
#1
Jia Zhang, Guolong Zhang, Cheng Ni, Ruhong Cheng, Jianying Liang, Ming Li, Zhirong Yao
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27477174/a-different-presentation-of-mal-de-meleda-new-skin-lesions-in-a-residual-limb-after-traumatic-amputation
#2
Emre Adıgüzel, Emine Yüksel, İsmail Safaz, Arif Kenan Tan
Mal de Meleda is a rare autosomal recessive skin disease which is known as keratoderma palmoplantaris transgradiens. Here we report a case of Mal de Meleda who had skin lesions in the residual limb and pseudoainhum in the thigh after traumatic lower leg amputation. A 71-year-old female was admitted to our tertiary hospital for prosthetic rehabilitation. On the physical examination, thickening of the skin on palms, left sole and residual limb was present. The patient reported that she had these skin lesions since infancy and she realized new skin lesions after amputation in the residual limb...
June 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/26986447/immunohistological-study-of-tight-junction-protein-expression-in-mal-de-meleda
#3
Monia Kacem, Faouzia Agili, Haifa Tounsi, Hela Zribi, Ines Zaraa, Mourad Mokni, Samir Boubaker
Mal de Meleda (MdM, MIM: 248300) is a rare autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis with onset in early infancy. The gene responsible for MdM, ARS, encodes for Secreted Lys6/Plaur domain-containing protein 1 which is essential for epidermal homeostasis. Tight junctions have been proposed to have two mutually exclusive functions: a fence function which prevents the mixing of membrane proteins between the apical and basolateral membranes; and a gate function which controls the paracellular passage of ions and solutes between cells...
July 2016: Ultrastructural Pathology
https://www.readbyqxmd.com/read/26967477/palmoplantar-keratoderma-in-slurp2-deficient-mice
#4
COMPARATIVE STUDY
Christopher M Allan, Shiri Procaccia, Deanna Tran, Yiping Tu, Richard H Barnes, Mikael Larsson, Bernard B Allan, Lorraine C Young, Cynthia Hong, Peter Tontonoz, Loren G Fong, Stephen G Young, Anne P Beigneux
SLURP1, a member of the lymphocyte antigen 6 protein family, is secreted by suprabasal keratinocytes. Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda. SLURP2, another secreted lymphocyte antigen 6 protein, is encoded by a gene located ?20 kb downstream from SLURP1. SLURP2 is produced by suprabasal keratinocytes. To investigate the importance of SLURP2, we first examined Slurp2 knockout mice in which exon 2-3 sequences had been replaced with lacZ and neo cassettes. Slurp2(-/-) mice exhibited hyperkeratosis on the volar surface of the paws (i...
February 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/26905431/human-secreted-ly-6-upar-related-protein-1-slurp-1-is-a-selective-allosteric-antagonist-of-%C3%AE-7-nicotinic-acetylcholine-receptor
#5
Ekaterina N Lyukmanova, Mikhail A Shulepko, Denis Kudryavtsev, Maxim L Bychkov, Dmitrii S Kulbatskii, Igor E Kasheverov, Maria V Astapova, Alexey V Feofanov, Morten S Thomsen, Jens D Mikkelsen, Zakhar O Shenkarev, Victor I Tsetlin, Dmitry A Dolgikh, Mikhail P Kirpichnikov
SLURP-1 is a secreted toxin-like Ly-6/uPAR protein found in epithelium, sensory neurons and immune cells. Point mutations in the slurp-1 gene cause the autosomal inflammation skin disease Mal de Meleda. SLURP-1 is considered an autocrine/paracrine hormone that regulates growth and differentiation of keratinocytes and controls inflammation and malignant cell transformation. The majority of previous studies of SLURP-1 have been made using fusion constructs containing, in addition to the native protein, extra polypeptide sequences...
2016: PloS One
https://www.readbyqxmd.com/read/26538740/mal-de-meleda-with-congenital-cataract-a-novel-case-report
#6
Anisha Sethi, Jaspreet Kaur Janda, Nidhi Sharma, S K Malhotra
Mal de meleda (MdM), a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens) and extend to the dorsal aspects of the hands and feet (transgrediens). It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before...
September 2015: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/26474319/il-22-stat3-induced-increases-in-slurp1-expression-within-psoriatic-lesions-exerts-antimicrobial-effects-against-staphylococcus-aureus
#7
Yasuhiro Moriwaki, Kiyoko Takada, Toshinori Nagasaki, Natsuki Kubo, Tomohiro Ishii, Kazuaki Kose, Taihei Kageyama, Shoutaro Tsuji, Koichiro Kawashima, Hidemi Misawa
BACKGROUND: SLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis. Moreover, although SLURP1 likely serves as an important proliferation/differentiation factor in keratinocytes, the possible relation between SLURP1 and other skin diseases, such as psoriasis and atopic dermatitis, has not been studied, and the pathophysiological control of SLURP1 expression in keratinocytes is largely unknown...
2015: PloS One
https://www.readbyqxmd.com/read/26445964/mal-de-meleda-a-focused-review
#8
REVIEW
Caroline Perez, Amor Khachemoune
Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of hyperkeratosis of the palms and soles. The disease can feature other potentially disfiguring effects on the hands and feet that can severely impact function. Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis...
February 2016: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/25886873/olmsted-syndrome-clinical-molecular-and-therapeutic-aspects
#9
REVIEW
Sabine Duchatelet, Alain Hovnanian
Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques...
2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/25557416/mal-de-meleda-in-indonesia-mutations-in-the-slurp1-gene-appear-to-be-ubiquitous
#10
Jessica A Taylor, Davide Bondavalli, Mastura Monif, Lee Mei Yap, Ingrid Winship
Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.
February 2016: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/25396148/mal-de-meleda-a-report-of-two-siblings-in-one-family
#11
Vijaya V Sajjan, Farhana Taj, B S Manjunathswamy
No abstract text is available yet for this article.
October 2014: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/25168896/slurp-1-modulates-corneal-homeostasis-by-serving-as-a-soluble-scavenger-of-urokinase-type-plasminogen-activator
#12
Sudha Swamynathan, Shivalingappa K Swamynathan
PURPOSE: Our previous study revealed the immunomodulatory property of the secreted lymphocyte antigen (Ly6)/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP1), abundantly expressed in the cornea and associated with the hyperkeratotic disorder Mal de Meleda. Here, we test the hypothesis that SLURP1 modulates the functions of membrane-tethered uPAR by acting as a soluble scavenger of its ligand urokinase-type plasminogen activator (uPA). METHODS: Human corneal limbal epithelial (HCLE) and mouse corneal stromal fibroblast MK/T-1 cells were employed to examine the effect of SLURP1 on cell proliferation and migration...
October 2014: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/25102791/mal-de-meleda-through-history-and-today
#13
REVIEW
Ana Bakija-Konsuo
Meleda disease is an indigenous dermatological disease classified as a hereditary palmoplantar keratoderma. The disease was first described on the island of Mljet, Croatia, by Luko Stulli in 1826. We present a historical review of the literature data throughout the centuries till today. Recently, the gene responsible for the disease has been identified on chromosome 8qter within the cluster of Ly-6 homologous human genes. Various mutations in the secreted LY6/PLAUR-related protein1 gene (SLURP1) located on the aforementioned chromosome were identified as the cause of the disease...
2014: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/24738704/the-first-mal-de-meleda-case-in-libya-identification-of-a-slurp1-mutation
#14
Mbarka Bchetnia, Mariam Bozgia, Nadia Laroussi, Ahlem Sabrine Ben Brick, Cherine Charfeddine, Nizar Ben Halim, Mourad Mokni, Mohamed Samir Boubaker, Sonia Abdelhak
No abstract text is available yet for this article.
December 2015: International Journal of Dermatology
https://www.readbyqxmd.com/read/24604124/palmoplantar-keratoderma-of-the-gamborg-nielsen-type-is-caused-by-mutations-in-the-slurp1-gene-and-represents-a-variant-of-mal-de-meleda
#15
Linshu Zhao, Anders Vahlquist, Marie Virtanen, Lena Wennerstrand, Lisbet K Lind, Anita Lundström, Maritta Hellström Pigg
Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1...
November 2014: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/24499735/palmoplantar-keratoderma-along-with-neuromuscular-and-metabolic-phenotypes-in-slurp1-deficient-mice
#16
Oludotun Adeyo, Bernard B Allan, Richard H Barnes, Chris N Goulbourne, Angelica Tatar, Yiping Tu, Lorraine C Young, Michael M Weinstein, Peter Tontonoz, Loren G Fong, Anne P Beigneux, Stephen G Young
Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK). SLURP1 is a secreted protein that is expressed highly in keratinocytes but has also been identified elsewhere (e.g., spinal cord neurons). Here, we examined Slurp1-deficient mice (Slurp1(-/-)) created by replacing exon 2 with β-gal and neo cassettes. Slurp1(-/-) mice developed severe PPK characterized by increased keratinocyte proliferation, an accumulation of lipid droplets in the stratum corneum, and a water barrier defect. In addition, Slurp1(-/-) mice exhibited reduced adiposity, protection from obesity on a high-fat diet, low plasma lipid levels, and a neuromuscular abnormality (hind-limb clasping)...
June 2014: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/24207119/mutations-in-serpinb7-encoding-a-member-of-the-serine-protease-inhibitor-superfamily-cause-nagashima-type-palmoplantar-keratosis
#17
Akiharu Kubo, Aiko Shiohama, Takashi Sasaki, Kazuhiko Nakabayashi, Hiroshi Kawasaki, Toru Atsugi, Showbu Sato, Atsushi Shimizu, Shuji Mikami, Hideaki Tanizaki, Masaki Uchiyama, Tatsuo Maeda, Taisuke Ito, Jun-ichi Sakabe, Toshio Heike, Torayuki Okuyama, Rika Kosaki, Kenjiro Kosaki, Jun Kudoh, Kenichiro Hata, Akihiro Umezawa, Yoshiki Tokura, Akira Ishiko, Hironori Niizeki, Kenji Kabashima, Yoshihiko Mitsuhashi, Masayuki Amagai
"Nagashima-type" palmoplantar keratosis (NPPK) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by well-demarcated diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis in NPPK is mild and nonprogressive, differentiating NPPK clinically from Mal de Meleda. We performed whole-exome and/or Sanger sequencing analyses of 13 unrelated NPPK individuals and identified biallelic putative loss-of-function mutations in SERPINB7, which encodes a cytoplasmic member of the serine protease inhibitor superfamily...
November 7, 2013: American Journal of Human Genetics
https://www.readbyqxmd.com/read/24093092/particular-mal-de-meleda-phenotypes-in-tunisia-and-mutations-founder-effect-in-the-mediterranean-region
#18
Mbarka Bchetnia, Nadia Laroussi, Monia Youssef, Cherine Charfeddine, Ahlem Sabrine Ben Brick, Mohamed Samir Boubaker, Mourad Mokni, Sonia Abdelhak, Jameleddine Zili, Rym Benmously
Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing of SLURP-1 gene in order to identify the genetic defect in three unrelated families (families MDM-12, MDM-13, and MDM-14) variably affected with transgressive palmoplantar keratoderma...
2013: BioMed Research International
https://www.readbyqxmd.com/read/24030314/comparative-study-of-high-resolution-multifrequency-ultrasound-of-the-plantar-skin-in-patients-with-various-types-of-hereditary-palmoplantar-keratoderma
#19
COMPARATIVE STUDY
I Goldberg, E Sprecher, M E Schwartz, D Gaitini
BACKGROUND: High-variable-frequency ultrasound is used as an imaging tool for various cutaneous disorders. We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM). OBJECTIVE: To ascertain the feasibility of ultrasound technology for the diagnosis of PC. METHODS: The study included a total of 16 patients, 7 with PC, 5 with EPPK and 4 with MDM, who underwent ultrasound examination of the plantar skin with high-resolution multifrequency ultrasound equipment...
2013: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/23896969/the-urokinase-receptor-homolog-haldisin-is-a-novel-differentiation-marker-of-stratum-granulosum-in-squamous-epithelia
#20
Henrik Gårdsvoll, Mette C Kriegbaum, Emil P Hertz, Warner Alpízar-Alpízar, Michael Ploug
Several members of the Ly-6/uPAR (LU)-protein domain family are differentially expressed in human squamous epithelia. In some cases, they even play important roles in maintaining skin homeostasis, as exemplified by the secreted single domain member, SLURP-1, the deficiency of which is associated with the development of palmoplantar hyperkeratosis in the congenital skin disorder Mal de Meleda. In the present study, we have characterized a new member of the LU-protein domain family, which we find to be predominantly expressed in the stratum granulosum of human skin, thus resembling the expression of SLURP-1...
November 2013: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
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