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Palmoplantar keratoderma

Paola Arcidiacono, Catherine M Webb, Matthew A Brooke, Huiqing Zhou, Paul J Delaney, Keat-Eng Ng, Diana C Blaydon, Andrew Tinker, David P Kelsell, Anissa Chikh
Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis. Inherited gain-of-function mutations in RHBDF2 (encoding iRHOM2) are associated with a hyperproliferative palmoplantar keratoderma and squamous oesophageal cancer syndrome (termed TOC). In contrast, genetic ablation of rhbdf2 in mice leads to a thinning of the mammalian footpad, and reduces keratinocyte hyperproliferation and migration. Here, we report that iRHOM2 is a novel target gene of p63 and that both p63 and iRHOM2 differentially regulate cellular stress-associated signalling pathways in normal and hyperproliferative keratinocytes...
March 9, 2018: Nature Communications
Jeong Won Jo, Do Seon Jeong, Chi Yeon Kim
Palmoplantar keratodermas (PPK) are heterogeneous disorders characterized by abnormal keratinization. Especially, punctate PPK (PPPK), one of the subtypes of hereditary PPK, is a rare punctate keratoderma characterized by tiny "raindrop" keratoses having a tendency to coalesce on the edge of soles, which are exposed to sustained pressure. If typical punctate lesions are confined to the palms and soles and the patient has a family history and late onset, it can be considered as PPPK type I (PPKP1), also called Buschke-Fisher-Brauer disease...
March 3, 2018: Journal of Dermatology
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles, and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into: i. non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; ii...
February 28, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Debora Rapaport, Boris Fichtman, Hilla Weidberg, Eli Sprecher, Mia Horowitz
Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions...
February 15, 2018: Biochemical and Biophysical Research Communications
Ji Young Choi, Song Ee Kim, Sang Eun Lee, Soo Chan Kim
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear...
March 2018: Yonsei Medical Journal
Abigail Zieman, Pierre A Coulombe
The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly-acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16-/- mice develop oral lesions early after birth and PC-like PPK lesions as young adults...
February 6, 2018: Experimental Dermatology
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development...
February 3, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Olivier Duverger, Jenna C Carlson, Chelsea M Karacz, Mary E Schwartz, Michael A Cross, Mary L Marazita, John R Shaffer, Maria I Morasso
Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. We further demonstrated that these keratins are produced by ameloblasts and are incorporated into mature human enamel...
January 22, 2018: PLoS Genetics
J C Prezzano, S C Reddy, F A Tausk
No abstract text is available yet for this article.
December 2017: British Journal of Dermatology
Dingyuan Wang, Vanessa Cui-Lian Chong, Wei-Sheng Chong, Hazel H Oon
Pityriasis rubra pilaris (PRP) is an idiopathic, papulosquamous inflammatory dermatosis. It is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. PRP can be subdivided into six clinical subtypes according to Griffiths' classification, based on age of onset, disease extent, prognosis, and other associated features. The sixth subtype of PRP occurs in individuals affected by HIV infection, and retroviral screening in all de novo cases of PRP is advised...
January 4, 2018: American Journal of Clinical Dermatology
S Quenan, E Laffitte
Pityriasis rubra pilaris is a rare heterogeneous dermatosis associating three clinical signs to different degrees: follicular corneal papules, reddish-orange palmoplantar keratoderma and erythematosquamous lesions that may in some cases be very extensive, interspersed with patches of healthy skin. The aetiology is unclear, and in most cases, the trigger factors consist of trauma or infection, probably in subjects with an existing predisposition. In other cases, the condition is associated with immunological disorders or, in familial cases, genetic keratinisation abnormalities similar to ichthyosis...
January 2018: Annales de Dermatologie et de Vénéréologie
Yassine Naasse, Amina Bakhchane, Hicham Charoute, Farida Jennane, Joelle Bignon-Topalovic, Abderrahim Malki, Anu Bashamboo, Abdelhamid Barakat, Hassan Rouba, Ken McElreavey
R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Both have PPK and hearing impairment and carried a novel homozygous mutation c.332G>A (p.Cys111Tyr) located in the highly conserved furin-like cysteine-rich domain-2 (FU-CRD2)...
December 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Christina Bergqvist, Humam Kadara, Lamiaa Hamie, Georges Nemer, Remi Safi, Mirna Karouni, Nadine Marrouche, Ossama Abbas, Divina J Hasbani, Abdul G Kibbi, Dany Nassar, Yutaka Shimomura, Mazen Kurban
BACKGROUND: Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients. OBJECTIVE: To study a Middle Eastern family with MDM with both PPK and skin tumors. METHODS: We studied a Middle Eastern (Palestinian) family with clinical features of MDM and cutaneous tumors...
February 2018: International Journal of Dermatology
Gunjan Verma, Kabir Sardana, R K Gautam
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome. We focus on this uncommon entity (XLO) to highlight the differentials of alopecia with palmoplantar keratoderma.
November 2017: Indian Dermatology Online Journal
Sarah Sanches, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, Giovana Liz Marioto de Campos
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings...
May 2017: Anais Brasileiros de Dermatologia
Gaia Moretta, Erika V De Luca, Alessandro Di Stefani
Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory papulosquamous skin disease. Its clinical presentation and evolution is very variable. The most frequent clinical features are follicular papules, progressing to yellow-orange erythroderma with round small areas of normal skin and the well-demarcated palmoplantar keratoderma. Actually, six different types of PRP have been described based on clinical characteristics, age of onset, and prognosis. The pathogenesis is still unknown, and treatment can be challenging...
2017: Clinical, Cosmetic and Investigational Dermatology
Megumi Mizawa, Teruhiko Makino, Masao Hayashi, Fumina Furukawa, Tadamichi Shimizu
No abstract text is available yet for this article.
November 21, 2017: European Journal of Dermatology: EJD
Sanjay Singh, Prateek Sondhi, Gomathy Sethuraman
No abstract text is available yet for this article.
November 2017: Pediatric Dermatology
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
Thiviyani Maruthappu, Lisa A McGinty, Diana C Blaydon, Benjamin Fell, Arto Määttä, Rebecca Duit, Tim Hawkins, Kristin M Braun, Michael A Simpson, Edel A O'Toole, David P Kelsell
No abstract text is available yet for this article.
November 11, 2017: Journal of Investigative Dermatology
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