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loricrin keratoderma

Pingjiao Chen, Silong Sun, Kang Zeng, Changxing Li, Ju Wen, Jingyao Liang, Xin Tian, Yiqi Jiang, Jing Zhang, Sanquan Zhang, Kai Han, Chunlei Han, Xibao Zhang
BACKGROUND: Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown. OBJECTIVES: To investigate the inheritance and pathogenesis of SAK. METHODS: Four SAK cases occurred in a four-generation Chinese family. Exome sequencing identified SNPs with potential SAK related mutations, and a potentially responsible gene (Transcription factor 4, TCF4) was identified. TCF4 was then sequenced in all 11 family members and pedigree analysis was performed...
September 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
Ewa Stypczyńska, Waldemar Placek, Barbara Zegarska, Rafał Czajkowski
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C)...
June 2016: Acta Dermatovenerologica Croatica: ADC
Ellen A Rorke, Gautam Adhikary, Christina A Young, Dennis R Roop, Richard L Eckert
Keratodermas comprise a heterogeneous group of highly debilitating and painful disorders characterized by thickening of the skin with marked hyperkeratosis. Some of these diseases are caused by genetic mutation, whereas other forms are acquired in response to environmental factors. Our understanding of signaling changes that underlie these diseases is limited. In the present study, we describe a keratoderma phenotype in mice in response to suprabasal epidermis-specific inhibition of activator protein 1 transcription factor signaling...
January 2015: Journal of Investigative Dermatology
Liliam Dalla Corte, Mariana Vale Scribel da Silva, Carina Flores de Oliveira, Gerson Vetoratto, Raquel Bissacotti Steglich, Josiane Borges
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum)...
November 2013: Anais Brasileiros de Dermatologia
Yu-mei Liu, Xin-jing Gao, Xin Tian, Xue-mei Li, Xi-bao Zhang
OBJECTIVE: To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome. METHODS: Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls. RESULTS: A novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls...
April 2013: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
D Hohl, M Huber
The ichthyoses are a heterogeneous group of monogenetically inherited disorders of cornification, and characterized clinically by scaling or hyperkeratosis. Historically, they were classified by clinical features and inheritance patterns. As a result of the recent molecular biological revolution, the ichthyoses are now recognized as comprising many diverse entities. Importantly, identical phenotypes may be caused by mutations in multiple genes, while mutations in a single gene may result in multiple and sometimes widely divergent phenotypes...
January 2013: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
J M Yeh, M H Yang, S C Chao
Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share the characteristic of impaired epidermal differentiation, resulting in prominent palmoplantar hyperkeratosis. Molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPKs over the past two decades, and thus a pathophysiological classificaiton seems more reasonable. Today PPK can be classified based on defects in keratins, loricrin, desmosomes, connexins and cathepsins...
March 2013: Clinical and Experimental Dermatology
Hassan Seirafi, Somayeh Khezri, Saeid Morowati, Kambiz Kamyabhesari, Mehdi Mirzaeipour, Farzaneh Khezri
Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.
2011: Dermatology Online Journal
S Wei, Y Zhou, T D Zhang, Z M Huang, X B Zhang, H L Zhu, B H Liang, L Lin, L Deng
BACKGROUND: Progressive symmetrical erythrokeratodermia (PSEK) is a rare inherited cornification disorder characterized by symmetrical erythematous hyperkeratotic plaques. The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4. A mutation in the loricrin gene (LOR) was found in patients with PSEK, who were members of a family with Vohwinkel syndrome...
June 2011: Clinical and Experimental Dermatology
Kozo Yoneda, Toshio Demitsu, Kozo Nakai, Tetsuya Moriue, Wataru Ogawa, Junsuke Igarashi, Hiroaki Kosaka, Yasuo Kubota
Loricrin is a major constituent of the epidermal cornified cell envelope. Recently, heterozygous loricrin gene mutations have been identified in two dominantly inherited skin diseases, Vohwinkel syndrome with ichthyosis and progressive symmetric erythrokeratoderma, collectively termed loricrin keratoderma. We generated stable HaCaT cell lines that express wild-type (WT) loricrin and a mutant form found in Vohwinkel syndrome with ichthyosis, using an ecdysone-inducible promoter system. The cells expressing the mutant loricrin grew more rapidly than those expressing WT loricrin after induction for 5 days...
May 21, 2010: Journal of Biological Chemistry
Markus Braun-Falco
Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share impaired epidermal differentiation resulting in prominent palmoplantar hyperkeratosis. Classically, keratodermas have been separated according to their clinical appearance into diffuse, focal, and as a feature of ectodermal dysplasias and many other syndromes. Since molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPK over the last two decades, a pathophysiological separation seems more reasonable...
November 2009: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
S Song, C Shen, G Song, X Mao, G Yan, X Wang, M Yan, N Zhong
BACKGROUND: Loricrin keratoderma (LK) is a group of congenital skin abnormalities characterized by the common features of honeycomb palmoplantar keratoderma and diffused ichthyosiform dermatosis. Earlier studies have shown that LK is associated with genetic defects of the loricrin gene. OBJECTIVES: To determine the correlation between a loricrin mutation and a heterogeneous phenotype of loricrin keratoderma. METHODS: We obtained DNA samples from a large family in which affected members showed more severe hyperkeratosis on the dorsal parts of their hands, mild palmoplantar keratoderma with no honeycomb-like manifestations and generalized ichthyosis...
September 2008: British Journal of Dermatology
Mir Mubashir Ali, Gatha M Upadya
A 28-year-old female born to consanguineous parents, presented with progressive palmoplantar keratoderma since the age of six months and a constricting band on right fourth finger of one year duration. There was history of similar complaints being present in two other family members. Associated clinical findings included starfish-shaped cornified plaques on knuckles, resorption of distal phalanges and keratotic plaques on elbows, groins and knees. The patient was mentally sound and had normal audiometry. Biopsy from hyperkeratotic plaque showed hyperkeratosis, parakeratosis, increased granular layer and papillomatosis...
November 2006: Indian Journal of Dermatology, Venereology and Leprology
M M Gedicke, H Traupe, B Fischer, S Tinschert, H C Hennies
Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. We identified the previously reported mutation 730insG in LOR, which elongates loricrin by 22 amino acids because of delayed termination. As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin keratoderma: (i) honeycomb palmoplantar keratoderma and (ii) diffuse ichthyosiform dermatosis...
January 2006: British Journal of Dermatology
Robert H Rice, Debra Crumrine, Yoshikazu Uchida, Robert Gruber, Peter M Elias
Defective transglutaminase 1 (TGM1) is a causative factor in some cases of lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) despite large differences in the phenotype between these conditions. In some of these individuals, defective cornified envelopes (CEs) have been reported by light or electron microscopic examination in epidermal scale, nail and/or hair. These findings suggest that assessment of such defects could have a diagnostic utility in distinguishing TG1-deficient versus non-deficient cases of autosomal recessive ichthyosis (ARI) ...
September 2005: Archives of Dermatological Research
H Caria, T Matos, R Oliveira-Soares, A R Santos, I Galhardo, L Soares-Almeida, O Dias, M Andrea, C Correia, G Fialho
Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed...
July 2005: Journal of the European Academy of Dermatology and Venereology: JEADV
Peter H Itin, Susanna K Fistarol
The palmoplantar skin is a highly specialized tissue which is able to resist mechanical trauma and other physical stress. In recent years the more descriptive classification of keratodermas has switched to an exact molecular genetic view where gene functions are considered. Palmoplantar keratodermas can be separated in the following functional subgroups: disturbed gene fuctions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein1), cell-to-cell communication (connexins), and transmembrane signal transduction (cathepsin C)...
January 2005: Clinics in Dermatology
M A M van Steensel, M van Geel, P M Steijlen
We describe a Dutch man suffering from a previously undescribed erythrokeratoderma associated with palmoplantar keratoderma and circular constrictions of the fingers. No mutations were identified in the genes encoding loricrin, connexin 26, 30, 30.3, 31 and 31.1, and ARS/complex B. There are some similarities between the disorder described here and other palmoplantar keratodermas and erythrokeratodermas, but assignment to a particular disease category is not possible. Hence we propose that we have delineated a novel type of keratoderma...
January 2005: British Journal of Dermatology
Matthias Schmuth, Joachim W Fluhr, Debra C Crumrine, Yoshikazu Uchida, Jean-Pierre Hachem, Martin Behne, David G Moskowitz, Angela M Christiano, Kenneth R Feingold, Peter M Elias
Although loricrin is the predominant protein of the cornified envelope (CE) in keratinocytes, loss or gain of loricrin function in mouse models produces only modest skin phenotypes. In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man. To ascertain the basis for the loricrin keratoderma phenotype, we assessed epidermal structure and stratum corneum (SC) function in a previously genotyped human loricrin keratoderma kindred...
April 2004: Journal of Investigative Dermatology
Fumihide Ogawa, Masako Udono, Hiroyuki Murota, Kazuhiro Shimizu, Hidetoshi Takahashi, Akemi Ishida-Yamamoto, Hajime Iizuka, Ichiro Katayama
Olmsted syndrome is an uncommon disorder of keratinization that presents mutilating palmoplantar keratoderma, periorificial hyperkeratosis, leukokeratosis and alopecia. We report a new case of this rare syndrome diagnosed in 48-year-old woman who developed several squamous cell carcinomas of limbs and adenocarcinoma of the lung. She has been followed up for about 40 years and osteolytic changes of the fingers and toes accompanied the keratinizing disorder and squamous cell carcinoma. Loricrin gene mutation that is occasionally observed in loricrin keratoderma such as Vohwinkel's syndrome was not detected in the present case...
November 2003: European Journal of Dermatology: EJD
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