3,540 results match your criteria: "Keratosis Palmaris et Plantaris"
[Palmoplantar dermatoses: Diagnostic approach in primary care].
Semergen
November 2024
Servicio de Dermatología/UNACESS, Hospital Clínico San Borja Arriarán, Santiago, Chile; Departamento de Dermatología, Facultad de Medicina, Universidad de Chile, Santiago, Chile. Electronic address:
Article Synopsis
- This article discusses the diagnostic difficulties faced by primary health care providers when dealing with palmoplantar dermatoses (PPD), which are common skin conditions affecting the palms and soles.
- PPD can vary greatly in symptoms and types, being classified as infectious, non-infectious inflammatory, or hereditary, although specific conditions like palmoplantar pustulosis and dyshidrosis are highlighted.
- The article emphasizes the need for primary health care professionals to be knowledgeable about these conditions and suggests a diagnostic algorithm to help in their management and proper referrals.
Calcium Regulation of Connexin Hemichannels.
Int J Mol Sci
June 2024
Veneto Institute of Molecular Medicine (VIMM), Via Orus 2, 35129 Padova, Italy.
Article Synopsis
- Connexin hemichannels (HCs) are crucial for communication between mammalian cells, as they can form gap junctions and exchange various messenger molecules like ATP and glutamate between the cytoplasm and the external environment.
- The opening of these HCs is influenced by the concentration of calcium ions (Ca) inside and outside the cell, which act as triggers and modulators for HC function, indicating the presence of at least two distinct calcium sensors.
- Abnormal regulation of HCs by calcium is linked to several diseases, suggesting that a balanced calcium sensitivity is essential for normal HC function, highlighting the need for further research to understand how changes in calcium levels affect HCs and potential therapeutic targets.
Pseudoainhum and universal alopecia.
J Dtsch Dermatol Ges
September 2024
Department of Dermatology and Phlebology, Vivantes Klinikum im Friedrichshain, Berlin, Germany.
SERPINB7 Deficiency Increases Legumain Activity and Impairs the Epidermal Barrier in Nagashima-Type Palmoplantar Keratoderma.
J Invest Dermatol
June 2024
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for skin diseases, Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, China. Electronic address:
Article Synopsis
- - Nagashima-type palmoplantar keratoderma is a genetic skin condition caused by mutations in the SERPINB7 gene, commonly seen in Asians, with no effective treatment currently available as its underlying mechanisms are not fully understood.
- - Research using Serpinb7 mice revealed a compromised skin barrier and reduced epidermal differentiation, particularly following treatment with acetone-ether-water, highlighting the role of SERPINB7 in maintaining skin integrity.
- - The study found that SERPINB7 functions as an inhibitor of the protease legumain, and its deficiency results in increased legumain activity, which disrupts cytoskeletal proteins and contributes to the skin barrier issues in this condition.
Transgradient Variant of Mal De Meleda Presenting As Palmoplantar Keratoderma: A Case Report.
Cureus
May 2024
Department of Dermatology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Article Synopsis
- Mal De Meleda is a rare genetic disorder marked by thick, yellowish skin on the palms and soles, along with itching and cracking.
- An 18-year-old male was diagnosed with the transgradiens variant of the disorder after clinical and histopathological evaluations.
- Treatment using oral acitretin and topical moisturizers led to significant skin improvement, emphasizing the need for awareness of rare skin conditions and a team-based approach for care.
Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.
J Neurosci
July 2024
Department of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland 21205
Article Synopsis
- SLURP1 and SLURP2 are proteins linked to a skin condition called Mal de Meleda (MdM), which causes painful thickening of skin on the palms and soles due to genetic mutations.
- Mouse models lacking SLURP1 or SLURP2 exhibit similar skin thickening and show increased pain sensitivity to touch and temperature.
- The study found that these mice have changes in skin immune response and nerve activity, suggesting they could help in developing treatments for pain related to this skin condition.
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
Prenat Diagn
June 2024
Department of Obstetrics and Gynecology, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Article Synopsis
- The study explored the effectiveness of prenatal exome sequencing (pES) in detecting genetic issues in fetuses that appeared normal based on physical exams.
- Out of 254 families analyzed, 8 (3.1%) were found to have abnormal findings, with most cases related to specific genetic disorders.
- The results highlight the importance of genetic counseling throughout the pES process, ensuring families receive clear information about potential findings and implications for future pregnancies.
Role of IL-23 inhibitors including risankizumab and guselkumab in the treatment of pityriasis rubra pilaris.
Arch Dermatol Res
June 2024
Dermatology Partners, Macungie, PA, USA.
Article Synopsis
- Pityriasis rubra pilaris (PRP) is a rare skin condition featuring salmon-colored plaques and hard skin on palms and soles, with traditional treatments often ineffective and risky.
- Recent interest has shifted towards the off-label use of IL-23 inhibitors, specifically risankizumab and guselkumab, which are approved for psoriasis and show promise in treating PRP.
- A review of 10 studies revealed that risankizumab improved symptoms in 10 out of 11 patients, while guselkumab led to complete clearance in 3 out of 5, but results varied, indicating the need for larger studies to confirm effectiveness and safety.
Pachyonychia congenita: pathogenesis of pain and approaches to treatment.
Clin Exp Dermatol
November 2024
Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
Article Synopsis
- Pachyonychia congenita is a genetic skin disorder that is autosomal dominant, leading to severe foot pain, thickened skin on palms and soles, and nail problems.
- The chronic pain from this condition can greatly reduce a person's quality of life, and current treatment options mainly involve lifestyle changes and some mechanical methods, with only a few patients finding relief from oral medications like retinoids.
- This review explores the causes of pain associated with pachyonychia congenita and discusses existing and potential future treatments.
Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma.
Clin Cosmet Investig Dermatol
May 2024
Department of Dermatology, The First Affiliated Hospital of Huzhou University, Huzhou, Zhejiang, People's Republic of China.
Article Synopsis
- Pachyonychia congenita (PC) is a rare genetic disorder marked by thickened nails and skin problems on the feet, caused by mutations in specific keratin genes.
- A study focused on a Chinese family with PC who had severe palmoplantar keratoderma and a new case of acral melanoma, involved genetic testing to find the underlying mutation.
- Researchers discovered a new mutation in the KRT16 gene (p.Arg127Pro) in the affected patient, which has previously been seen in Dutch patients with PC, but this is the first report in a Chinese individual.
Article Synopsis
- Keratosis palmoplantaris striata type I (SPPK-I) is a rare genetic skin condition marked by painful, thickened areas on palms and soles, often due to mutations in the desmoglein-1 gene.
- Patients experience hyperkeratotic plaques and painful fissures, but existing treatments like salicylic vaseline and corticosteroids do not provide effective relief.
- A case study highlights a specific genetic variant linked to SPPK-I, yet the search for effective treatments continues due to the limited options available for this disorder.*
Case report of crusted scabies, brief review of its pathophysiology and latest data.
AME Case Rep
February 2024
Department of Internal Medicine, General Hospital-Health Center of Karystos "Diokleio", Karystos, Greece.
Background: Crusted scabies is a rare form of parasitic infection provoked by a massive infestation of the ectoparasite varietas hominis on human skin. It is an extremely contagious type of disease and can even lead to a social stigma. In European countries like Greece, many cases remain undiagnosed for long periods, causing extreme distress in the patient's everyday life and social environment.
View Article and Find Full Text PDFGenetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Mol Med Rep
July 2024
Department of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China.
Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation.
View Article and Find Full Text PDFNASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.
Int J Cardiovasc Imaging
June 2024
The Russel H. Morgan Department of Radiology and Radiological Sciences, The Johns Hopkins University School of Medicine, Halstead B180, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Article Synopsis
- - A young patient experienced chest pain, and tests indicated possible acute myocarditis.
- - Genetic testing ultimately diagnosed the patient with desmoplakin cardiomyopathy, a specific type of heart disease.
- - It's important to consider desmoplakin cardiomyopathy in cases of recurring myocarditis or if there's a family history of heart issues to prevent misdiagnosis.
A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.
Int J Dermatol
September 2024
Department of Dermatovenerology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
A Case of Palmoplantar Keratoderma in the Constellation of Connective Tissue Diseases.
Cureus
March 2024
Radiodiagnosis, All India Institute of Medical Sciences, Nagpur, Nagpur, IND.
Overlap syndrome is a clinical challenge and brings together a wide range of treatment options for the treating physician. Addressing each and every complaint of the patient is crucial. A 50-year-old female patient presented with skin thickening, blackening, and hyperkeratosis; dysphagia; joint pain; features of myopathy; Raynaud's phenomenon; and dry mouth.
View Article and Find Full Text PDFA mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Eur J Hum Genet
June 2024
Shanghai Skin Disease Hospital, School of Medicine, Tongji Medical University, Shanghai, China.
Article Synopsis
- * Researchers analyzed a Chinese family with AKE symptoms using genome-wide linkage analysis and whole-exome sequencing, leading to the identification of a mutation in the CCDC91 gene which affects elastin transport.
- * Functional tests showed that a lack of CCDC91 leads to abnormal accumulation of proteins in skin cells, providing new insights into how this gene contributes to the disease's progression and advancing the understanding of AKE mechanisms.
Palmoplantar psoriasis or palmoplantar keratoderma? Successful treatment with brodalumab.
Int J Dermatol
September 2024
Dermatology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
J Eur Acad Dermatol Venereol
September 2024
Department of Clinical Genetics, Pellegrin University Hospital of Bordeaux, Bordeaux, France.
Article Synopsis
- The study aimed to clarify the dermatological features of Costello syndrome (CS) and distinguish them from other similar syndromes like cardiofaciocutaneous syndrome (CFCS) and types of Noonan syndrome (NS).
- A ten-year multi-center study involving 31 patients found common skin and hair anomalies in CS, such as excessive eyebrows and various types of skin growths, which can help differentiate CS from CFCS and NS.
- The findings propose multiple melanocytic naevi as a potential marker for a milder form of CS and suggest that acitretin could be beneficial for treating certain skin conditions, although no clear genotype-phenotype link was identified.
Paraneoplastic Eczematous Dermatitis With Palmoplantar Keratoderma as an Initial Manifestation of Acute Myeloid Leukemia.
Am J Med
September 2024
Department of Internal Medicine, University of California, Davis, Sacramento. Electronic address:
Spiny Keratoderma: Clinical and Histopathological Findings in a Series of 3 Cases.
Am J Dermatopathol
July 2024
Department of Dermatology, Yale School of Medicine, New Haven, CT.
Article Synopsis
- - Spiny keratoderma is a rare skin condition characterized by small, spiny growths on the palms and soles, which can be inherited or acquired.
- - The acquired form may be linked to other health issues but not necessarily to cancer, and it can be confused with similar skin conditions like arsenical keratosis.
- - This article discusses three cases of acquired spiny keratoderma in patients with different systemic diseases, highlighting that none had underlying malignancies.
Nagashima-type palmoplantar keratosis associated with Tc17 cells in a patient with rheumatoid arthritis.
Eur J Dermatol
February 2024
Department of Dermatology.
Unusual Presentation of Aquagenic Palmoplantar Keratoderma with Overlapping Clinical Features with Hereditary Papulotranslucent Acrokeratoderma in a Young Male.
Indian Dermatol Online J
November 2023
Department of Dermatology and STD, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Hyalohyphomycosis (Fusariosis): Atypical Presentation in an Immunocompetent Individual Responding to Itraconazole.
Indian Dermatol Online J
August 2023
Department of Dermatology, Jawaharlal Institute of Post-Graduation Medical Education and Research JIPMER, Puducherry, India.
Article Synopsis
- * Fusariosis typically leads to severe skin issues, like papulo-nodules and ulcers, and is often treated successfully with antifungals like amphotericin B, voriconazole, or posaconazole.
- * The report highlights a rare case of cutaneous fusariosis in an immune-healthy person, characterized by large cystic swellings and skin plaques, which notably improved with itraconazole treatment.