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Palmoplantar keratoderma

Akm Monwarul Islam, Md Toufiqur Rahman, Abu Hana Chowdhury
Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation. The diagnosis and management of ARVC are at present in evolution; the recently published modified Task Force Criteria for diagnosis and International Task Force consensus statement for treatment of ARVC will hopefully bring about uniformity in recognition and management of Naxos disease as well...
October 2016: Cardiovascular Diagnosis and Therapy
A Paganelli, S Ciardo, G Odorici, G Pellacani, A Conti
Pityriasis rubra pilaris (PRP) is a rare, chronic inflammatory skin disorder characterized by the presence of small follicular hyperkeratotic papules that coalesce into yellow-pink (salmon-colored) patches, usually beginning at the head and neck and often resulting in generalized erythroderma(1) . Other main clinical features are "islands" of sparing within the affected skin, palmoplantar keratoderma, nail dystrophy, oral involvement and eventually ectropion. The age of onset has a peak between 50 and 70 years but a juvenile presentation is not uncommon...
October 14, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep
Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association.
September 2016: Indian Dermatology Online Journal
Nan Chen, Jingying Sun, Yali Song, Xinjing Wei, Yan Shi, Li Zhang
BACKGROUND: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK). AIMS: To identify the genes caused the EPPK of a Chinese family. PATIENTS/METHODS: Three cases of lesions were collected for pathological examination. Genomic DNA was extracted from peripheral blood samples of six patients and five healthy individuals and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 of KRT9 gene...
October 10, 2016: Journal of Cosmetic Dermatology
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...
September 21, 2016: Molecular Medicine Reports
S Gagliardi, I Ricca, A Ferrarini, M Valente, G S Grieco, G Piccolo, E Alfonsi, M Delledonne, C Cereda
IMPORTANCE: In the eighties a clinical and familiar condition in which two different diseases Charcot-Marie-Tooth Disease type 2 (CMT2), and Palmoplantar Keratoderma (PPK) seemed to define an interesting complex phenotype (OMIM 148360) has been described. The regular association of this phenotype and the autosomal dominant trait has suggested that this clinical condition was expression of the same mutant gene. Exome analysis has been performed in an Italian family which members were affected by CMT2, PPK and CMT/PPK...
September 17, 2016: British Journal of Dermatology
S Dănescu, J Leppert, R Cosgarea, S Zurac, S Pop, A Baican, C Has
SAM syndrome (OMIM 615508), comprising severe dermatitis, multiple allergies and metabolic wasting, was first described by Samuelov et al in 2013(1) . Cutaneous findings consisted of congenital erythroderma, superficial skin erosions, fine scales and palmoplantar keratoderma and were accompanied by extracutaneous findings including perinatal hyponatremia, food allergies, elevated IgE levels, recurrent infections, metabolic wasting, malabsorbtion, esophageal reflux and eosinophilic esophagitis, cardiac defects, microcephaly and development delay (2,3) ...
September 15, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
2016: Dermatology Online Journal
A Sravanthi, P Srivalli, K V T Gopal, T Narayana Rao
Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails...
July 2016: Indian Dermatology Online Journal
M-L Lovgren, M A McAleer, A D Irvine, N J Wilson, S Tavadia, M E Schwartz, C Cole, A Sandilands, F J D Smith, M Zamiri
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis: striate, focal, diffuse, and punctate. Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs...
August 18, 2016: British Journal of Dermatology
M Kono, K Fukai, N Shimizu, J Nagao, T Takeichi, D Tsuruta, K Sugiura, M Akiyama
Punctate palmoplantar keratoderma type 1A (PPKP1A, OMIM#148600) is a rare form of palmoplantar keratoderma with autosomal dominant inheritance. PPKP1A clinically shows multiple punctate hyperkeratotic papules affecting the palmar and plantar skin(1) . In 2012, heterozygous AAGAB mutations were identified as a cause of PPKP1A(1, 2) . Here we report Japanese familial cases with PPKP1A carrying a novel AAGAB mutation. This article is protected by copyright. All rights reserved.
August 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
F Morice-Picard, N Jonca, M Pichery, Diane Mermin, C Leauté-Labreze, A Taïeb, J Mazereeuw-Hautier, F Boralevi
We described a young patient born from related parents, originary from the southwest of France. Family history was uneventful. The patient was presenting at birth with palmar keratoderma. He developed during the first year of life a diffuse palmoplantar keratoderma associated with progressive sclerosing deformity of the fingers (Fig. 1). At his first examination at the age of 4, he also had a mild ichthyosis with slight white skin scaling and hyperkeratosis predominant on flexural areas (knees, axillary, elbows and neck) (Fig...
August 9, 2016: 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
Carmen Esmer, Julio C Salas-Alanis, Oscar R Fajardo-Ramirez, Brenda Ramírez, Rong Hua, Keith Choate
Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases...
May 2016: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
Divya Angra, Kunal Angra, Ife J Rodney
No abstract text is available yet for this article.
May 2016: JAAD Case Reports
Nareh V Marukian, Keith A Choate
The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance...
2016: F1000Research
C Charfeddine, C Ktaifi, N Laroussi, H Hammami, H Jmel, Z Landoulsi, T Badri, R Benmously, M Bchetnia, M S Boubaker, S Fenniche, S Abdelhak, M Mokni
BACKGROUND: Punctate palmoplantar keratoderma type I (PPPK-BFB), also called Buschke-Fischer-Brauer disease (MIM 148600) is a rare autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles. Recently, PPPK-BFB has been shown to be associated with mutations in the AAGAB gene in several families of European, African, Canadian and Asian origins. OBJECTIVE: To characterize the clinical and genetic features of PPPK-BFB in a broad group of Tunisian patients...
July 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
M Castori, S Morlino, M E Sana, M Paradisi, G Tadini, A Angioni, M Malacarne, P Grammatico, M Iascone, F Forzano
Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case...
August 2016: Clinical and Experimental Dermatology
A Bousfiha, A Bakhchane, S Elrharchi, H Dehbi, M Kabine, S Nadifi, H Charoute, A Barakat
Mutations in the GJB2 gene encoding connexin 26 are the main cause of hereditary hearing impairment. These mutations generate mainly autosomal recessive and rarely autosomal dominant deafness. Dominant mutations in GJB2 can be responsible for isolated deafness as well as syndromic hearing loss associated with various skin abnormalities. Until now few papers discuss dominant mutations in the GJB2 gene. In this work we report a rare case about a Moroccan family with a compound heterozygous mutation (the dominant p...
April 2016: Current Research in Translational Medicine
Atishay Bukharia, Sweta Komal, V Madhu Sudhanan, Shyam Sundar Chaudhary
Olmsted syndrome is a very rare and severe cicatrizing keratoderma associated with periorificial lesion. Most cases are sporadic but familial occurrence has been also seen. Till now around 73 cases have been reported and none of the reported cases have 4 siblings affected from this disease. We are reporting cases of 4 siblings of age 30 year female, 26 year female, 20 year male and 10 year male who were born to a third degree consangueinous marriage and presented with palmoplantar keratoderma, periorificial hyperkeratosis, flexion deformity, pseudoainhum and contracture of digits...
May 2016: Indian Journal of Dermatology
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