3,540 results match your criteria: "Keratosis Palmaris et Plantaris"

An uncontrolled activity of neutrophil serine proteases (NSPs) contributes to inflammatory diseases. Cathepsin C (CatC) is known to activate NSPs during neutrophilic differentiation and represents a promising pharmacological target in NSP-mediated diseases. In humans, Papillon-Lefèvre syndrome (PLS) patients have mutations in theirCTSC gene, resulting in the complete absence of CatC activity.

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Celebrating 20 Years of the International Pachyonychia Congenita Consortium.

J Invest Dermatol

October 2024

Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Tel-Aviv University, Tel Aviv, Israel.

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Article Synopsis
  • Biallelic variants in the LSS gene are linked to various syndromes, including alopecia-intellectual disability syndrome and cataracts.
  • A case study of a Chinese girl revealed congenital alopecia universalis, cataract, esotropia, and nystagmus due to specific variants in the LSS gene.
  • The findings suggest a new classification for LSS-related diseases, termed congenital alopecia-cataract syndrome (CACS), enhancing the understanding of this genetic disorder.
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We report a case of a Filipino child who presented with yellowish hyperkeratotic plaques on the palms and soles with palmar transgredient extension to the wrists, a yellowish hyperkeratotic plaque over the coccygeal area, and brownish-black hyperkeratotic perianal plaques. Patient had delayed physical development and short stature, but no intellectual disability. Histopathologic examination showed palmoplantar keratoderma.

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Long-Standing Remission After Tildrakizumab Treatment in a Case of Refractory Type I Pityriasis Rubra Pilaris in a Breast Cancer Patient.

Clin Cosmet Investig Dermatol

October 2024

Dermatology Unit, Azienda Unità Sanitaria Locale- IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory skin disease characterised by follicular keratotic papules and perifollicular erythema coalescing into orange-red scaly plaques, and palmoplantar keratoderma. Characteristic islands of sparing are usually observed. A standardised therapeutic approach is lacking owing to the infrequent occurrence of this disease.

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A young female with rapid progression of erythroderma and palmoplantar keratoderma.

Int J Rheum Dis

October 2024

Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan.

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Article Synopsis
  • * Histological analysis shows these lesions are made up of distinct columns of abnormal keratin on a thin outer skin layer, and sporadic cases may be linked to chronic illnesses or cancers.
  • * A case study describes an elderly man with liver cirrhosis and cancer who experienced a remission of skin lesions two months after a liver transplant, suggesting the condition may relate to his cancer diagnosis.
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Introduction And Importance: Pityriasis rubra pilaris is a rare inflammatory papulosquamous disorder which manifests in six clinical subtypes affecting both pediatric and adult populations.

Presentation Of Case: A 14-year-old female presented with multiple itchy scaly lesions on her hands and legs which began as vesicles 9 days after birth. Histopathological examination confirmed the diagnosis of pityriasis rubra pilaris.

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Article Synopsis
  • - Pityriasis rubra pilaris (PRP) is a rare skin condition characterized by chronic inflammation and scaly patches, affecting mostly the extremities while sparing the trunk.
  • - A 43-year-old woman with a history of atopic dermatitis presented with itchy skin lesions, and after thorough examination and biopsy, she was diagnosed with atypical adult PRP (type II).
  • - The patient was treated with narrowband UVB phototherapy, leading to complete clearance of skin lesions within two months, and she has remained lesion-free for two years during follow-up.
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Cutting Through Complexity: Surgical Management of Severe Palmoplantar Keratoderma.

Cureus

July 2024

Dermatology, I.K. Akhunbaev Kyrgyz State Medical Academy, Bishkek, KGZ.

Article Synopsis
  • Olmsted syndrome is a rare genetic disorder that causes severe thickening of the palms and soles, often resistant to traditional treatments.
  • A case study discusses a patient with the condition, showing extensive treatment and surgeries that ultimately led to successful management after 16 years.
  • The case highlights the challenges of Olmsted syndrome and presents a novel surgical strategy that allowed the patient, now a college student, to return to normal daily activities.
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Symmetrical acral keratoderma associated with new variants in the filaggrin gene.

Eur J Dermatol

August 2024

Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Candidate Branch of National Clinical Research Center for Skin Diseases, Shenzhen, China.

Article Synopsis
  • - Symmetrical acral keratoderma (SAK) is a rare skin condition characterized by symmetrical thick patches of skin on the hands and feet, linked to variations in the filaggrin gene (FLG).
  • - A study investigated the clinical and genetic backgrounds of six SAK patients using whole-exome sequencing and other techniques.
  • - Researchers discovered two new genetic variants and confirmed seven previously known variants related to FLG, reinforcing the connection between these variants and SAK.
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Cathepsin C in health and disease: from structural insights to therapeutic prospects.

J Transl Med

August 2024

Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.

Article Synopsis
  • * The review covers the structure, function, and genetic variants of CTSC, linking them to several syndromes like Papillon-Lefevre syndrome, Haim-Munk Syndrome, and aggressive periodontitis, which involve skin and dental issues.
  • * CTSC's role in diseases like chronic obstructive pulmonary disease, COVID-19, and various cancers highlights its potential as a target for new therapies in autoimmune and inflammatory conditions.
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Article Synopsis
  • Palmoplantar keratoderma is characterized by thickened skin on the hands and feet, with treatments usually focused on softening and managing symptoms, often leading to recurrence after stopping medication.
  • A case study in a dermatology department treated a 27-year-old female with personalized homeopathic medicine, Petroleum 30C, over five months to assess its effectiveness.
  • The results showed complete resolution of symptoms like skin cracking and thickening, suggesting that individualized homeopathic treatment can be a viable alternative to conventional pharmaceuticals.
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Article Synopsis
  • Pityriasis rubra pilaris (PRP) is a rare skin disease that looks a lot like psoriasis and affects the skin on the palms and soles.
  • Some recent treatments using special medicines called monoclonal antibodies have shown good results for people with PRP.
  • One case of an adult diagnosed with an unusual type of PRP showed major improvement after receiving a specific treatment and emphasized the importance of genetic testing in figuring out tricky skin diseases.
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  • Plantar keratomas are painful lesions on weight-bearing areas of the foot that often require ongoing treatment, impacting patients' quality of life.
  • A study reviewed 9 patients with intractable plantar keratomata who received microwave therapy, showing a significant reduction in pain levels as treatments progressed.
  • Results indicated a 90.4% mean decrease in pain over four treatments, with 71.4% of patients experiencing no pain by their final visit.
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Article Synopsis
  • Palmoplantar keratoderma (PPK) is a skin condition that causes thick skin and abrasions on the hands and feet, linked to genetic factors, including mutations in a specific gene.
  • A new harmful variant (c.794G>C, p.Arg265Pro) in this gene was found in a 60-year-old female PPK patient, who had various symptoms such as skin changes, brittle nails, and thin hair.
  • This study suggests that the identified gene variant affects the stability of a protein crucial for WNT signaling, which is important for skin health, indicating that disrupted signaling may contribute to the development of PPK in the patient.
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Article Synopsis
  • A case study on a three-year-old girl identified a specific mutation in the PIK3CA gene, linked to unilateral focal PPK, showing abnormal skin cell behavior and signaling pathways.
  • This study highlights the role of the PI3K/AKT/mTOR pathway in skin health and introduces a new association between PIK3CA and PPK, expanding the understanding of genetic skin disorders.
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CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

Pediatr Dermatol

November 2024

Department of Internal Medicine, Division of Dermatology, Dell Medical School, University of Texas, Austin, Texas, USA.

Article Synopsis
  • PLACK syndrome is a rare genetic skin condition associated with symptoms like peeling skin, white nails, and knuckle pads, caused by mutations in the CAST gene that affects a specific protease.
  • This case report discusses a patient with PLACK syndrome who showed unusual palm hyperkeratosis and developed serious heart issues, specifically cardiomyopathy.
  • The report emphasizes the need to understand how CAST mutations can affect heart health and highlights the possible links between PLACK syndrome and cardiac problems.
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