"Knuckle pads"

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads. Epidermolytic palmoplantar keratoderma (EPPK) is characterized by diffuse hyperkeratosis affecting palms and soles with suprabasal epidermolysis or vacuolar degeneration histopathologically. The disorder is caused by heterozygous mutations in KRT9 or KRT1. Dominant-negative mutations in KRT1 could also result in epidermolytic ichthyosis with EPPK, a more severe entity affecting the entire body. To investigate the genetic basis and pathogenesis of two unrelated patients with EPPK and knuckle pads, both of whom were born to consanguineous parents of Chinese origin. Next-generation sequencing was applied to the two patients using genomic DNA extracted from peripheral blood. Quantitative

Imaging Features of Knuckle Pads

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads. Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generalized peeling skin , leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, which we propose to be given the acronym PLACK syndrome. In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in CAST, all of which were predicted to encode truncated proteins (p.Ile203Asnfs∗8, p.Lys142∗, and p.Val584Trpfs∗37

Knuckle Pads (Diagnosis) Knuckle Pads: Background, Pathophysiology, Etiology News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from MedscapeRegisterLog In No ResultsNo =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA3NDM3OS1vdmVydmlldw==processing....Drugs & Diseases > Dermatology Knuckle PadsUpdated: Mar 12, 2019 * Author: Cheryl J Barnes, MD; Chief Editor: Dirk M Elston, MD more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Knuckle Pads * * Sections Knuckle Pads * Overview * * * Background * Pathophysiology * Etiology * Epidemiology * Prognosis

Knuckle Pads (Follow-up) Knuckle Pads Treatment & Management: Medical Care, Surgical Care, Complications For YouNews & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA3NDM3OS10cmVhdG1lbnQ=processing....Drugs & Diseases > Dermatology Knuckle Pads Treatment & ManagementUpdated: Mar 12, 2019 * Author: Cheryl J Barnes, MD; Chief Editor: Dirk M Elston, MD more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Knuckle Pads * * Sections Knuckle Pads * Overview * * * Background * Pathophysiology * Etiology

Knuckle Pads (Treatment) Knuckle Pads Treatment & Management: Medical Care, Surgical Care, Complications News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA3NDM3OS10cmVhdG1lbnQ=processing....Drugs & Diseases > Dermatology Knuckle Pads Treatment & ManagementUpdated: Mar 12, 2019 * Author: Cheryl J Barnes, MD; Chief Editor: Dirk M Elston, MD more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Knuckle Pads * * Sections Knuckle Pads * Overview * * * Background * Pathophysiology * Etiology

Knuckle Pads (Overview) Knuckle Pads: Background, Pathophysiology, Etiology News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português * UKNewUnivadisXUnivadis from MedscapeRegisterLog In No ResultsNo =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTA3NDM3OS1vdmVydmlldw==processing....Drugs & Diseases > Dermatology Knuckle PadsUpdated: Mar 12, 2019 * Author: Cheryl J Barnes, MD; Chief Editor: Dirk M Elston, MD more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Knuckle Pads * * Sections Knuckle Pads * Overview * * * Background * Pathophysiology * Etiology * Epidemiology * Prognosis

be affected.A more aggressive form can occur in which there is early age of onset, a strong family history, bilateral hand involvement and associated ectopic disease (see below).Other areas of the body may be affected - eg, the knuckles (thickened knuckle pads over the dorsal surface of the PIP joints), soles of the feet (plantar fibromatosis) and the penis (penile fibromatosis, or Peyronie's disease be measured whilst applying passive extension to the PIP joint.PIP joint contracture is measured while the MCP joint is held in flexion.When there is 30° of flexion deformity at the MCP joint, the patient is unable to place their palm and fingers flat against a hard surface - for example, a table. This is known as Hueston's tabletop test.If there are knuckle pads on the dorsal PIP surfaces, there is more

Erosive Arthritis, Fibromatosis, and Keloids: A Rare Dermatoarthropathy Polyfibromatosis is a rare disease characterized by fibrosis manifesting in different locations. It is commonly characterized by palmar fibromatosis (Dupuytren's contracture) in variable combinations with plantar fibromatosis (Ledderhose's disease), penile fibromatosis (Peyronie's disease), knuckle pads, and keloids

. Here, we present a large Chinese family with Basan syndrome; some patients presented with hyperpigmentation and knuckle pads in addition to previously reported clinical manifestations. We used genome-wide linkage analysis and whole-genome sequencing (WGS) to identify the pathogenic gene in this unique pedigree. Genome-wide linkage analysis successfully mapped the candidate gene to 4p15.31-4p14

BM evaluation for cytopenia (s). Twenty-one of 25 cases (84%) had MA, while MA without hyperpigmentation occurred only in 12 of remainder 173 cases (P<0.001). Knuckle pad hyperpigmentation (KP) was noted in 16 (64%) cases; whereas 9 (36%) had diffuse brownish black discoloration (DP) of the palms and/or soles. Eighteen of 25 (72%) cases had pancytopenia (13 with KP) and 7 of 25 (28%) had with pyrexia, fever subsided after 24 to 72 hours following administration of parenteral cobalamin therapy. Cutaneous hyperpigmentation and cytopenia (s) are strongly associated with megaloblastic anemia. Knuckle pad hyperpigmentation is much more frequent than diffuse pigmentation of the palms and/or soles in such patents. A nonsignificant trend towards a greater degree of MA was found in cases

contracture, knuckle pads, or induratio penis plastica (ie, Peyronie disease, first reported in 1743 by François de la Peyronie, physician of Louis XV of France). In fact, literature has shown that concurrence of Ledderhose disease and Peyronie disease to Dupuytren contracture ranges from 9% to 25% and 4%, respectively. [2] This indicates that heredity is a likely factor for the development in patients

Diutinum What to Read Next on Medscape Related Conditions and Diseases * Erythema Elevatum Diutinum * Hypersensitivity Vasculitis * Leukocytoclastic Vasculitis * Granuloma Annulare * Neutrophilic Eccrine Hidradenitis * Granuloma Faciale * Knuckle Pads Medscape Consult News & Perspective * Type I Interferon Response and Vascular Alteration in Chilblain-like Lesions During the COVID-19

* Hypersensitivity Vasculitis * Leukocytoclastic Vasculitis * Granuloma Annulare * Neutrophilic Eccrine Hidradenitis * Granuloma Faciale * Knuckle Pads Medscape Consult News & Perspective * Type I Interferon Response and Vascular Alteration in Chilblain-like Lesions During the COVID-19 Outbreak * Erosive Pustular Dermatosis of the Scalp * Classification of the Cutaneous Manifestations of COVID-19

, Scott CA, Plagnol V, Smith FJ, et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015 Mar 5. 96 (3):440-7. [QxMD MEDLINE Link]. Media Gallery * * * White, transverse, horizontal lines are observed on 4 fingers of a 49-year-old man with adenocarcinoma in his rectosigmoid and adenoma in his

Diutinum What to Read Next on Medscape Related Conditions and Diseases * Erythema Elevatum Diutinum * Hypersensitivity Vasculitis * Leukocytoclastic Vasculitis * Granuloma Annulare * Neutrophilic Eccrine Hidradenitis * Granuloma Faciale * Knuckle Pads Medscape Consult News & Perspective * Type I Interferon Response and Vascular Alteration in Chilblain-like Lesions During the COVID-19

contracture, knuckle pads, or induratio penis plastica (ie, Peyronie disease, first reported in 1743 by François de la Peyronie, physician of Louis XV of France). In fact, literature has shown that concurrence of Ledderhose disease and Peyronie disease to Dupuytren contracture ranges from 9% to 25% and 4%, respectively. [2] This indicates that heredity is a likely factor for the development in patients

, Scott CA, Plagnol V, Smith FJ, et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015 Mar 5. 96 (3):440-7. [QxMD MEDLINE Link]. Media Gallery * * * White, transverse, horizontal lines are observed on 4 fingers of a 49-year-old man with adenocarcinoma in his rectosigmoid and adenoma in his

* Hypersensitivity Vasculitis * Leukocytoclastic Vasculitis * Granuloma Annulare * Neutrophilic Eccrine Hidradenitis * Granuloma Faciale * Knuckle Pads Medscape Consult News & Perspective * Type I Interferon Response and Vascular Alteration in Chilblain-like Lesions During the COVID-19 Outbreak * Erosive Pustular Dermatosis of the Scalp * Classification of the Cutaneous Manifestations of COVID-19

Manifestations of Smoking * Cutis Laxa (Elastolysis) * Elastosis Perforans Serpiginosum * Knuckle Pads * Kyrle Disease * Lichen Myxedematosus * Pachydermoperiostosis * Pseudocyst of the Auricle * Pseudoxanthoma Elasticum * Reactive Perforating Collagenosis * Striae Distensae (Stretch Marks)Diseases of the Oral Mucosa * Angina Bullosa Hemorrhagica * Aphthous Stomatitis * Cancers of the Oral Mucosa * Cheilitis Pilaris * Kimura Disease * Kindler Syndrome * Klippel-Trenaunay-Weber Syndrome * Knuckle Pads * Kyrle Disease * LEOPARD Syndrome * Lamellar Ichthyosis * Langerhans Cell Histiocytosis * Laser Treatment of Acquired and Congenital Vascular Lesions * Laser Treatment of Benign Pigmented Lesions * Laser Treatment of Leg Veins * Laugier-Hunziker Syndrome * Leiomyoma * Lentigo * Lentigo Maligna Melanoma