{"Name":"Aquagenic palmoplantar keratoderma","DiseaseID__c":"GARD:0012991","id":12991,"encodedName":"aquagenic-palmoplantar-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Aquagenic palmoplantar keratoderma","Xref_IDs__c":"1169365006; C4087301; MEDGEN:1789947; MONDO:0044663; ORPHA:498359","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0044663","Disease_Description__c":"Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.","GARD_Name__c":"Aquagenic palmoplantar keratoderma","GARD_Synonym__c":"aquagenic keratoderma; aquagenic syringeal acrokeratoderma; aquagenic wrinkling of palms; aquagenic wrinkling of the palms; transient reactive papulotranslucent acrokeratoderma","Curated_Disease_Description_Source__c":"GARD:0012991","Curated_Disease_Description__c":"Aquagenic palmoplantar keratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the 'hand in the bucket sign,' that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic palmoplantar keratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by genetic changes in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:498359","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044663","ORPHANET_ID__c":"ORPHA:498359","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar acuagénica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratodermia palmoplantar acuagénica","Spanish_GARD_Synonym__c":"acroqueratodermia papulo-translúcida reactiva transitoria; acroqueratodermia siríngea acuagénica; arrugas acuagénicas de las palmas; queratodermia acuagénica","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Aquagenic palmoplantar keratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the 'hand in the bucket sign,' that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic palmoplantar keratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by genetic changes in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib.","Curated_Disease_Description_Source__c":"GARD:0012991","GARD_Synonym__c":"aquagenic keratoderma; aquagenic syringeal acrokeratoderma; aquagenic wrinkling of palms; aquagenic wrinkling of the palms; transient reactive papulotranslucent acrokeratoderma","Name":"Aquagenic palmoplantar keratoderma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:498359"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:498359"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:498359"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:498359"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012991","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/498359","Source__c":"MONDO:0044663","Xref__c":"ORPHA:498359"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4087301","Source__c":"C4087301","Xref__c":"C4087301"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1789947","Source__c":"C4087301","Xref__c":"MEDGEN:1789947"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044663","Source__c":"GARD:0012991","Xref__c":"MONDO:0044663"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1169365006","Source__c":"C4087301","Xref__c":"1169365006"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006261","HPO_Synonym__c":"Abnormality of phalangeal joints of the hand; Abnormality of the small joints of the hand","HPO_Name__c":"Abnormal phalangeal joint morphology of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007407","HPO_Synonym__c":"Excessive skin wrinkling on back of hands and fingers","HPO_Name__c":"Excessive skin wrinkling on dorsum of hands and fingers","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased perspiration on palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007410","HPO_Synonym__c":"Excessive sweating of palms and soles; Hyperhidrosis of palms and soles","HPO_Name__c":"Palmoplantar hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031248","HPO_Synonym__c":"Itchy palm","HPO_Name__c":"Palmar pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005425","HPO_Synonym__c":"Chronic sinopulmonary infection; Recurrent sinus and lung infections","HPO_Name__c":"Recurrent sinopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025080","HPO_Name__c":"Orthokeratotic hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A papule with white color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031289","HPO_Name__c":"White papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:498359","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["aquagenic keratoderma"," aquagenic syringeal acrokeratoderma"," aquagenic wrinkling of palms"," aquagenic wrinkling of the palms"," transient reactive papulotranslucent acrokeratoderma"]}