{"Name":"Linear and whorled nevoid hypermelanosis","DiseaseID__c":"GARD:0011004","id":11004,"encodedName":"linear-and-whorled-nevoid-hypermelanosis","IsDeleted":false,"Disease_Name_Full__c":"Linear and whorled nevoid hypermelanosis","Xref_IDs__c":"403803002; C1304501; C3924; MEDGEN:473394; MONDO:0013688; OMIM:614323; ORPHA:79150","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013688","Disease_Description__c":"Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.","GARD_Name__c":"Linear and whorled nevoid hypermelanosis","GARD_Synonym__c":"becker nevus; becker's nevus; linear papular ectodermal-mesodermal hamartoma; lwnh; melanosis neviformis; pigmented hairy epidermal nevus; pigmented hairy nevus of becker; progressive cribriform and zosteriform hyperpigmentation","Curated_Disease_Description_Source__c":"GARD:0011004","Curated_Disease_Description__c":"Linear and whorled nevoid hypermelanosis (LWNH) is a rare benign condition affecting skin pigment occurring in newborns or early infancy. The primary symptom is swirling streaks of darkened (hyperpigmented) skin, mainly on the trunk and limbs. The dark streaks appear along the lines of normal skin development (lines of Blaschko). The dark streaks sometimes fade with age. Most of the time, only the skin is affected, but other conditions, such as growth, developmental, or heart problems may be present. The cause for LWNH is unknown. Genetic factors, especially chromosomal mosaicism, may be involved. LWNH is not thought to be inherited. It is diagnosed based on the symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79150","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013688","ORPHANET_ID__c":"ORPHA:79150","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipermelanosis nevoide lineal y en espiral","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipermelanosis nevoide lineal y en espiral","Spanish_GARD_Synonym__c":"lwnh","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":"Linear and whorled nevoid hypermelanosis (LWNH) is a rare benign condition affecting skin pigment occurring in newborns or early infancy. The primary symptom is swirling streaks of darkened (hyperpigmented) skin, mainly on the trunk and limbs. The dark streaks appear along the lines of normal skin development (lines of Blaschko). The dark streaks sometimes fade with age. Most of the time, only the skin is affected, but other conditions, such as growth, developmental, or heart problems may be present. The cause for LWNH is unknown. Genetic factors, especially chromosomal mosaicism, may be involved. LWNH is not thought to be inherited. It is diagnosed based on the symptoms.","Curated_Disease_Description_Source__c":"GARD:0011004","GARD_Synonym__c":"becker nevus; becker's nevus; linear papular ectodermal-mesodermal hamartoma; lwnh; melanosis neviformis; pigmented hairy epidermal nevus; pigmented hairy nevus of becker; progressive cribriform and zosteriform hyperpigmentation","Name":"Linear and whorled nevoid hypermelanosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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:79150"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79150"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/79150","Source__c":"C1304501; MONDO:0013688; ORPHA:79150","Xref__c":"ORPHA:79150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403803002","Source__c":"C1304501; MONDO:0013688","Xref__c":"403803002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1304501","Source__c":"C1304501","Xref__c":"C1304501"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=473394","Source__c":"C1304501","Xref__c":"MEDGEN:473394"},{"URL__c":"https://www.omim.org/entry/614323","Source__c":"C1304501; MONDO:0013688; ORPHA:79150","Xref__c":"OMIM:614323"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3924","Source__c":"MONDO:0013688","Xref__c":"C3924"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013688","Source__c":"GARD:0011004","Xref__c":"MONDO:0013688"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614323","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007572","HPO_Name__c":"Hyperpigmented streaks","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614323","Feature__r":{"HPO_Description__c":"Increased count of eosinophils in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001880","HPO_Synonym__c":"Eosinophilia; High blood eosinophil count; Increased eosinophil count","HPO_Name__c":"Increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["becker nevus"," becker's nevus"," linear papular ectodermal-mesodermal hamartoma"," lwnh"," melanosis neviformis"," pigmented hairy epidermal nevus"," pigmented hairy nevus of becker"," progressive cribriform and zosteriform hyperpigmentation"]}