keyword
MENU ▼
Read by QxMD icon Read
search

Palmoplantar keratoderma

keyword
https://www.readbyqxmd.com/read/28418591/a-hypomorphic-egfr-allele-does-not-ameliorate-the-palmoplantar-keratoderma-caused-by-slurp1-deficiency
#1
Christopher M Allan, Deanna Tran, Yiping Tu, Patrick J Heizer, Lorraine C Young, Loren G Fong, Anne P Beigneux, Stephen G Young
Mutations in SLURP1, a secreted protein of keratinocytes, cause a palmoplantar keratoderma (PPK) known as mal de Meleda. Slurp1 deficiency in mice faithfully recapitulates the human disease, with increased keratinocyte proliferation and thickening of the epidermis on the volar surface of the paws. There has long been speculation that SLURP1 serves as a ligand for a receptor that regulates keratinocyte growth and differentiation. We were intrigued that mutations leading to increased signaling through the epidermal growth factor receptor (EGFR) cause PPK...
April 18, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28398428/paraneoplastic-palmoplantar-keratoderma-secondary-to-metastatic-uterine-adenocarcinoma
#2
Joseph R Kallini, Khosro Sadeghani, Amor Khachemoune
Palmoplantar keratoderma (PPK) is a dermatosis that presents as hyperkeratosis of the palms and soles. It may be acquired or heritable. Acquired PPK often occurs as a paraneoplastic response as well as a stigma of other dermatoses. We report a rare case of a 72-year-old woman with acquired PPK secondary to metastatic uterine adenocarcinoma. We also review other rare cases of cutaneous paraneoplasia secondary to uterine cancer and describe the salient features of acquired PPK. Acquired PPK most commonly presents as a paraneoplastic response to visceral malignancies that include localized esophageal, pulmonary, urinary/bladder, and gastric carcinomas, as well as myeloma...
March 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28391651/identification-of-a-heterozygous-p-gly568val-missense-mutation-in-the-trpv3-gene-in-a-japanese-patient-with-olmsted-syndrome-in-silico-analysis-of-trpv3
#3
Hiroshi Nagai, Yutaka Takaoka, Aki Sugano, Yuji Nakamachi, Seiji Kawano, Chikako Nishigori
Olmsted syndrome is a very rare congenital disorder, characterized by palmoplantar keratoderma and periorificial keratotic lesions. Recently, TRPV3 was reported to be a causative gene of Olmsted syndrome. We identified a heterozygous missense mutation of TRPV3, c.1703G>T, p.Gly568Val, in a Japanese patient with Olmsted syndrome. To the best of our knowledge, this is the first report of a Japanese patient with Olmsted syndrome harboring a missense mutation in TRPV3. We conducted in silico analysis of TRPV3 to evaluate whether the p...
April 9, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28377424/the-ca2-permeable-cation-trpv3-channel-an-emerging-pivotal-target-for-itch-and-skin-diseases
#4
Gongxin Wang, Kewei Wang
Temperature-sensitive transient receptor potential (thermo-TRP) channels such as TRPA1 and TRPV1 have been indicated as downstream ion channel targets in transduction of itch. As a member of thermos-TRPs, Ca2+-permeable nonselective cation TRPV3 channels are expressed abundantly in the skin keratinocytes. Recent identification of gain-of-function mutations of human TRPV3 from patients with Olmsted Syndrome characterized by severe itching and palmoplantar and periorificial keratoderma unveils its crucial role in chronic itch and skin diseases...
April 4, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28329610/generalized-woolly-hair-with-diventricular-arrythmogenic-cardiomyopathy-a-rare-variant-of-naxos-disease
#5
Abhijit Dutta, Sudip Kumar Ghosh, Biswajit Majumder, Rahul Majumdar
Woolly hair may occur as an isolated problem of cosmetic concern or can be a part of a systemic disease (woolly hair syndrome) with underlying fatal cardiomyopathy. Two characteristic associations of woolly hair syndrome are Naxos disease and Carvajal syndrome. Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329514/disseminated-punctate-keratoderma-a-rare-case-report-and-review-of-the-literature
#6
Eseosa Asemota, Alina Markova, Jonathan Ho, Michael K Lichtman
We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia. There was no parakeratosis, cornoidlamella, or dyskeratosis. Based on the clinical findingsand histopathological features, a diagnosis ofdisseminated punctate keratoderma was made. Thisis a rare subtype of palmoplantar keratoderma, whichhas a putative increased risk of malignancy...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329484/gabapentin-induced-aquagenic-wrinkling-of-the-palms
#7
Nazan Emiroglu, Fatma P Cengiz, Ozlem Su, Nahide Onsun
Aquagenic keratoderma (AK) or aquagenic wrinklingis a rare palmoplantar skin disease. It is sporadic orhereditary condition. It appears in childhood or youngadulthood and it is seen as multiple asymptomaticsmall shiny papules on the peripheral margin ofpalms and/or soles after submersion in water. Thepathogenesis and etiology of ASA remains unclear.Drugs sometimes trigger AK. Herein, we present thecase of a 29-year-old man who had begun treatmentwith gabapentin three weeks before the onset of hiscutaneous symptoms...
January 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28301045/beneficial-effect-of-ustekinumab-in-familial-pityriasis-rubra-pilaris-with-a-new-missense-mutation-in-card14
#8
S M Lwin, C-K Hsu, L Liu, H-Y Huang, N J Levell, J A McGrath
Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance. In such cases, there may be gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing protein 14 (CARD14) that activates the non-canonical nuclear factor-kappa B (NF-κB) pathway, thereby promoting cutaneous inflammation. Here, we report a mother and son with PRP due to a new missense mutation in CARD14 and describe the beneficial clinical effects of ustekinumab, a monoclonal antibody against interleukins-12 and -23, in both subjects...
March 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28239884/mutations-in-aagab-underlie-autosomal-dominant-punctate-palmoplantar-keratoderma
#9
N Dinani, M Ali, L Liu, J McGrath, J Mellerio
Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.
February 27, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28224164/multiple-primary-acral-lentiginous-melanoma-on-the-feet-developing-in-lesions-of-nagashima-type-palmoplantar-keratoderma
#10
Akimasa Adachi, Mayumi Komine, Takeo Maekawa, Satoru Murata, Aiko Shiohama, Akiharu Kubo, Mamitaro Ohtsuki
is missing (Short communication).
February 22, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28024685/decreases-in-15-lipoxygenase-metabolites-in-olmsted-syndrome-model-rats
#11
Masato Wakabayashi, Takeshi Yoshioka, Kenichi Higashino, Yoshito Numata, Yasuyuki Igarashi, Akio Kihara
BACKGROUND: Olmsted syndrome (OS) is a congenital dermatosis characterized by palmoplantar keratoderma and periorificial keratotic plaque. TRPV3 (transient receptor potential vanilloid subtype 3) encodes a thermosensitive Ca(2+) channel and is the causative gene of OS. However, the molecular mechanism that causes the pathological development of OS is unclear. OBJECTIVE: We aimed to investigate the molecular mechanisms underlying OS pathology from the perspective of lipid metabolism...
March 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28017832/autosomal-recessive-keratoderma-ichthyosis-deafness-arkid-syndrome-is%C3%A2-caused-by-vps33b-mutations-affecting%C3%A2-rab-protein-interaction-and%C3%A2-collagen-modification
#12
Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R Janecke, Paul Gissen
In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen-modifying enzyme LH3. Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome...
April 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28008647/palmoplantar-keratoderma-in-costello-syndrome-responsive-to-acitretin
#13
Nareh V Marukian, Jonathan L Levinsohn, Brittany G Craiglow, Leonard M Milstone, Keith A Choate
Costello syndrome (CS) is a multisystem congenital disorder characterized by coarse facial features, cardiac defects, intellectual disability, and predisposition to malignancies. Dermatologic findings can include cutaneous papillomas, skin redundancy, acanthosis nigricans, and keratosis pilaris. Palmoplantar keratoderma (PPK) is present in approximately 76% of patients with CS, with disabling functional consequences in severe cases. We report a case of CS with severe PPK that improved dramatically with systemic administration of acitretin 0...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27982550/desmosomes-and-corneodesmosomes-and-their-relevance-to-genetic-skin-diseases
#14
Akemi Ishida-Yamamoto, Mari Kishibe, Masaru Honma
Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development. Namely, in the lower stratum corneum, corneodesmosomes are seen all around the cell membrane, but in the upper layers, they are only found at the edges of the flattened cells. Recently, it has been proposed that tight junction-derived structures are involved in this unique distribution of corneodesmosomes by protecting corneodesmosome degradation from proteases...
April 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27938812/acral-manifestations-of-paraneoplastic-and-collagen-vascular-diseases
#15
Ülker Gül
The skin often signals a number of systemic disease, making skin findings of paramount significance. Paraneoplastic diseases and collagen vascular diseases are vitally important illnesses. Paraneoplastic diseases and collagen vascular diseases may also occur with many different acral skin findings. Paraneoplastic skin diseases, associated with some cancers, are by definition nonmalignant skin disorders. These diseases can occur before, simultaneously, or after the diagnosis of cancer. Acral paraneoplastic diseases include acanthosis nigricans maligna, acquired pachydermatoglyphia, acrokeratosis paraneoplastica, palmoplantar keratoderma, and paraneoplastic nail disorders...
January 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#16
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
January 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27864007/six-generations-of-epidermolytic-palmoplantar-keratoderma-associated-with-a-krt9-r163w-mutation
#17
Peng Wang, Xiao-Jing Kang, Xiao-Hui Tang, Jian-Yong Liu, Wen-Zheng Li, Wei-Jia Wang, Sheng-Nan Liang, Yan-Yan Feng, Yuan Ding, Wen-Jing Chen
Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology.WES analysis was undertaken on two individuals from a large Uygur EPPK pedigree whose disease locus mapped to 17q21...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27795791/-late-onset-dermatophytic-disease
#18
Christelle Natacha Ebongo Aboutou, Fouzia Hali, Soumya Chihab
Dermatophytic disease, described for the first time in 1959 by Hadida and Schousboe, is a chronic dermatophyte infection of the skin and viscera. It is a rare disease occurring mainly in Maghreb. Immunological studies have highlighted a deficit of cellular immunity with autosomal recessive transmission responsible for tolerance to dermatophyte. The first signs of this disease usually occur during childhood. Our patient suffered from pachyonychia affecting all his nails and erythematous, circinate, pruritic, scaly lesions occurring in all his seed coat from the age of 50 years...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27795780/-pachyonychia-congenita-associated-with-renal-artery-stenosis-and-bronchiectasis
#19
El Alaoui Ismaili Fatiha, Chemlal Abdeljalil, Karimi Ilham, Benabdellah Nawal, Bentata Yassamine, Zizi Nada, Benajiba Nafissa, Haddiya Intissar
Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. The diagnosis of pachyonychia congenita was retained based on clinical and histological data. However the presence of renal artery stenosis and bronchiectasis suggests a possible association as part of a particular syndromic group...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27786350/striate-palmoplantar-keratoderma-showing-transgrediens-in-a-patient-harbouring-heterozygous-nonsense-mutations-in-both-dsg1-and-serpinb7
#20
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
is missing (Short communication).
March 10, 2017: Acta Dermato-venereologica
keyword
keyword
79941
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"