HyperkeratosisEpidermolyticAutosomal dominantKeratodermasGenetic heterogeneityKeratosisPlantar keratodermaTransgredientNail dystrophyInfancyPalmsCystsClassificationsOMIMMutationsSyndromeGeneAlopeciaLesionsMolecularSkinIchthyosisNonepidermolyticHyperkeratosis of the palms and solesPlantarHereditaryHyperhidrosisAutosomal recessiveFocalRetinoidsPalmoplantarisPunctateSevereFissuresSclerodactylyKeratolyticsDescriptorPatientsLimbsOralTreatment
Hyperkeratosis4
- KS is characterized by skin fragility acral blister formation beginning at birth or in early infancy, diffuse cutaneous atrophy, poikiloderma, photosensitivity (which is severe during childhood and usually weakens after adolescence), palmoplantar hyperkeratosis and pseudo syndactyly ( 1 ). (spandidos-publications.com)
- Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al. (nih.gov)
- Palmoplantar keratodermas are rare inherited disorders characterized by palmar and plantar hyperkeratosis. (msdmanuals.com)
- Conditions characterized by palmoplantar keratosis (PPK) are the most causes of congenital hyperkeratosis. (faoj.org)
Epidermolytic5
- We identified mutations in AQP5 as the underlying cause of an autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma (NEPPK), a skin disease characterised by thickening of the epidermis on the palms and soles along with an outside-in barrier defect. (qmul.ac.uk)
- 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (nih.gov)
- Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene). (mendelian.co)
- Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection. (mendelian.co)
- Diffuse non-epidermolytic palmoplantar keratoderma.Indian Pediatr. (dermacompass.net)
Autosomal dominant4
- Diffuse nonepidermolytic palmoplantar keratoderma: This autosomal dominant form develops in infancy and causes well-demarcated, symmetric keratoderma involving the entirety of the palms and soles. (msdmanuals.com)
- 7] It is a disease of autosomal dominant origin characterized by severe palmoplantar keratosis. (faoj.org)
- 1] Vohwinkel's syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant condition first described in 1929. (faoj.org)
- Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. (findzebra.com)
Keratodermas3
- Mutations in K6C have been identified as being able to cause diffuse and focal palmoplantar keratodermas. (wikipedia.org)
- INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. (dundee.ac.uk)
- Palmoplantar keratodermas encompass a broad range of inherited disorders. (msdmanuals.com)
Genetic heterogeneity1
- Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma ( NEPPK ) is caused by mutation in the KRT1 gene. (mendelian.co)
Keratosis2
- Extracardiac manifestations include palmoplantar keratosis and curly hair seen in individuals with autosomal-recessive inheritance. (medscape.com)
- Case presentations describing a congenital variation of palmoplantar keratosis are presented. (faoj.org)
Plantar keratoderma1
- Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. (nih.gov)
Transgredient2
- Diffuse transgredient palmoplantar keratoderma, typically developing within the first 3 years of life. (lu.se)
- It is characterized by a diffuse transgredient PPK with onset in early infancy. (cyberleninka.org)
Nail dystrophy1
Infancy1
- This keratoderma associates, as early as infancy, intense gingivitis with alveolar bone lysis and early loss of baby teeth. (lu.se)
Palms3
- The function of AQP5 in epidermal keratinocytes is currently unknown, but the diffuse NEPPK patient phenotype indicates that AQP5 has a role in the establishment and/or maintenance of the epidermal barrier, particularly in the highly specialised epidermis of the palms and soles (palmoplantar) which is exposed to increased levels of mechanical stress. (qmul.ac.uk)
- Compared to the hairy skin covering the majority of the human body, palmoplantar skin found on our palms and soles is highly specialized to withstand increased levels of mechanical stress. (qmul.ac.uk)
- Diffuse abnormal thickening of the skin on the palms and soles. (nih.gov)
Cysts1
- Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. (findzebra.com)
Classifications1
OMIM1
- The diffuse Bothnian form of NEPPK ( PPKB ) is caused by mutation in the AQP5 gene ( OMIM ). (mendelian.co)
Mutations2
- Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs. (dundee.ac.uk)
- Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs.OBJECTIVES: We report seven unrelated pedigrees with dominantly inherited PPK due to mutations in the DSG1 gene, with marked phenotypic variation.METHODS: Genomic DNA from each family was isolated, and individual exons amplified by polymerase chain reaction (PCR). (dundee.ac.uk)
Syndrome1
- Greither syndrome [6] A type of diffuse Palmoplantar Keratoderma (PPK) (transgrediens and progrediens PPK), originally described in 1952. (cyberleninka.org)
Gene1
- KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolyticpalmoplantar keratoderma. (dermacompass.net)
Alopecia1
- Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al. (nih.gov)
Lesions1
- These lesions can be divided into diffuse and punctuate. (faoj.org)
Molecular1
- We hypothesise that a greater appreciation of the molecular mechanisms employed by the palmoplantar epidermis will improve our understanding of hyperproliferative skin conditions in general. (qmul.ac.uk)
Skin1
- However, palmoplantar skin remains largely under-studied and the mechanisms involved in maintaining barrier function in the presence of a 'stress' phenotype are not fully understood. (qmul.ac.uk)
Ichthyosis3
- Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). (orpha.net)
- Differential diagnosis includes other forms of keratinopathic ichthyosis such as epidermolytic ichthyosis, as well as epidermolytic palmoplantar keratoderma, erythrokeratodermia variabilis, and KID syndrome (see these terms). (orpha.net)
- They have been associated with autosomal dominant palmoplantar keratoderma with and without ichthyosis vulgaris. (medscape.com)
Nonepidermolytic3
- These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C. (nih.gov)
- Other diffuse hereditary PPKs include Greither syndrome, Bart-Pumphrey syndrome (PPK with knuckle pads, leukonychia, and deafness), Huriez syndrome (PPK with scleroatrophy), Clouston syndrome ( hidrotic ectodermal dysplasia ), diffuse nonepidermolytic PPK with sensorineural deafness, and Naxos disease (diffuse nonepidermolytic PPK with woolly hair and cardiomyopathy). (logicalimages.com)
- Diffuse nonepidermolytic palmoplantar keratoderma: This autosomal dominant form develops in infancy and causes well-demarcated, symmetric keratoderma involving the entirety of the palms and soles. (msdmanuals.com)
Hyperkeratosis of the palms and soles1
- Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. (beds.ac.uk)
Plantar4
- Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. (nih.gov)
- Patients manage plantar keratoderma and thickened nails by various methods of exfoliation (e.g., filing or grinding). (acom-healthcare.dev)
- Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. (findzebra.com)
- Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. (nih.gov)
Hereditary3
- Hereditary PPKs are approached and classified by the pattern of hyperkeratosis: diffuse, focal (often occurring over weight-bearing areas), or punctate. (logicalimages.com)
- Mal de Meleda is a rare diffuse hereditary PPK associated with SLURP1 mutations and features stocking-glove distribution of hyperkeratosis with malodor and nail changes. (logicalimages.com)
- The most clear defined hereditary predisposition associated with ESCC is palmoplantar keratoderma (PPK). (biomedcentral.com)
Hyperhidrosis2
- Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma ( KERATODERMA, PALMOPLANTAR ), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present. (nih.gov)
- 13 Additional symptoms of PC include oral leukokeratosis (mouth plaques/erosions), cysts, follicular hyperkeratosis, palmoplantar hyperhidrosis, and occasionally natal teeth. (acom-healthcare.dev)
Autosomal recessive1
- Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. (medscape.com)
Focal3
- We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis. (nih.gov)
- The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles. (nih.gov)
- Accumulation of tyrosine leads to focal (or diffuse) hyperkeratotic plaques on the hands, feet, elbows, and knees, corneal inflammation / ulceration, and intellectual disability in some cases. (logicalimages.com)
Retinoids1
- De-scaling of the skin with topical keratolytics or oral retinoids often removes too much scale (epidermis), resulting in raw exposed dermis.8 Bathing with salt or sodium bicarbonate is less effective than keratolytics but may help reduce palmoplantar keratoderma. (acom-healthcare.dev)
Palmoplantaris2
- Don't fight Keratoderma palmoplantaris transgrediens alone. (rareguru.com)
- Connect with other caregivers and patients with Keratoderma palmoplantaris transgrediens and get the support you need. (rareguru.com)
Punctate1
- How to cite this article: Jose S, Kamath K N, Pai G S, Pinto J. Punctate palmoplantar keratoderma. (symptoma.com)
Severe1
- Scaling and thickening of the skin on the hands and feet (palmoplantar keratoderma) can become severe, limiting mobility and hand dexterity. (acom-healthcare.dev)
Fissures1
- Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. (nih.gov)
Sclerodactyly1
- 4) Palmoplantar Keratoderma with sclerodactyly (hardening and thickening of the connective tissues of the fingers and toes). (symptoma.com)
Keratolytics1
- emollients and keratolytics to relieve palmoplantar hyperkeratosis. (nih.gov)
Descriptor1
- Keratoderma, Palmoplantar" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
Patients1
- Patients are also affected with striate or diffuse PPK. (orpha.net)
Limbs1
- Hyperkeratosis is often diffuse and more pronounced on extensor areas of the limbs, extremities and the trunk. (orpha.net)
Oral1
- Additionaly, oral leukoplakia and esophageal hyperkeratosis may accompany to palmoplantar keratoderma. (biomedcentral.com)
Treatment1
- Treatment - Keratoderma palmoplantar spastic paralysis Not supplied. (symptoma.com)