{"Name":"Bathing suit ichthyosis","DiseaseID__c":"GARD:0016938","id":16938,"encodedName":"bathing-suit-ichthyosis","IsDeleted":false,"Disease_Name_Full__c":"Bathing suit ichthyosis","Xref_IDs__c":"725588002; C4511230; MEDGEN:1386460; MONDO:0015085; ORPHA:100976","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015085","Disease_Description__c":"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.","GARD_Name__c":"Bathing suit ichthyosis","GARD_Synonym__c":"bsi","Curated_Disease_Description_Source__c":"ORPHA:100976","Curated_Disease_Description__c":"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:100976","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015085","ORPHANET_ID__c":"ORPHA:100976","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis del área del traje de baño","Spanish_Description_Source__c":"ORPHA:100976","Spanish_Description__c":"La ictiosis del área del traje de baño (BSI; por sus siglas en inglés) es una variante poco frecuente de la ictiosis congénita autosómica recesiva (ICAR; consulte este término) caracterizada por la presencia de grandes escamas oscuras en áreas específicas del cuerpo.","Spanish_Disease_Name__c":"ictiosis del área del traje de baño","Spanish_GARD_Synonym__c":"bsi","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":"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.","Curated_Disease_Description_Source__c":"ORPHA:100976","GARD_Synonym__c":"bsi","Name":"Bathing suit ichthyosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:100976"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:100976"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1386460","Source__c":"C4511230","Xref__c":"MEDGEN:1386460"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725588002","Source__c":"C4511230; MONDO:0015085","Xref__c":"725588002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511230","Source__c":"C4511230","Xref__c":"C4511230"},{"URL__c":"https://www.orpha.net/en/disease/detail/100976","Source__c":"C4511230; MONDO:0015085; ORPHA:100976","Xref__c":"ORPHA:100976"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015085","Source__c":"GARD:0016938","Xref__c":"MONDO:0015085"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002828","HPO_Name__c":"Multiple joint contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007479","HPO_Synonym__c":"Collodion baby; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; Nonbullous congenital ichthyosiform erythroderma; Nonbullous congenital ichthyosis","HPO_Name__c":"Congenital nonbullous ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An outward turning (eversion) or rotation of the eyelid margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000656","HPO_Synonym__c":"Eyelid turned out","HPO_Name__c":"Ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007460","HPO_Name__c":"Autoamputation of digits","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A turning outward of the lip or lips, that is, eversion of the lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012472","HPO_Synonym__c":"Eclabium; Everted lips; Outward turned lips","HPO_Name__c":"Eclabion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001019","HPO_Synonym__c":"Exfoliative dermititis; Generalized erythroderma; Generalized erythrodermia","HPO_Name__c":"Erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100976","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025524","HPO_Name__c":"Palmoplantar scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["bsi"]}