{"orpha":90368,"name":"Hypotrichosis simplex of the scalp","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary hypotrichosis simplex of the scalp"],"definition":"A rare alopecia characterized by scalp-limited progressive hair loss. Most of the patients present with normal hair at birth, progressive hair loss starts during the first decade of life and leads to almost complete loss (sparse, fine and short hairs may remain in some patients) of scalp hair by the third decade. Body, axillary and facial hair (including eyebrows, eye lashes and beard) are not affected. Teeth and nails develop normally.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90368/","orphanet_url":"https://www.orpha.net/en/disease/detail/90368","names":{"fr":{"name":"Hypotrichose simple du cuir chevelu","synonyms":["Hypotrichose héréditaire simple du cuir chevelu"],"definition":"L'hypotrichose simple du cuir chevelu (HSCC) est caractérisée par une perte diffuse et progressive des cheveux restreinte au cuir chevelu."},"de":{"name":"Hypotrichosis simplex des Skalps","definition":"Die Hypotrichosis simplex des Skalps (HSS) ist gekennzeichnet durch diffusen, fortschreitenden, auf die Kopfhaut beschränkten Haarverlust."},"es":{"name":"Hipotricosis simple del cuero cabelludo","synonyms":["Hipotricosis simple del cuero cabelludo hereditaria"],"definition":"Es una alopecia poco común caracterizada por una pérdida de cabello progresiva y limitada al cuero cabelludo. La mayoría de los pacientes presenta cabello normal al nacer; la pérdida progresiva comienza durante la primera década de vida y conduce a una pérdida casi total del cabello (en algunos pacientes puede quedar cabello escaso, fino y corto) hacia la tercera década. El vello corporal, axilar y facial (incluyendo cejas, pestañas y barba) no se ve afectado. Los dientes y las uñas se desarrollan con normalidad."},"it":{"name":"Ipotricosi semplice del cuoio capelluto","synonyms":["Ipotricosi semplice del cuoio capelluto, forma ereditaria"]},"nl":{"name":"Hypotrichosis simplex van scalp","synonyms":["Erfelijke hypotrichosis simplex van scalp"],"definition":"Een zeldzame alopecie, gekenmerkt door progressief haarverlies beperkt tot de scalp. De meeste patiënten vertonen normaal haar bij de geboorte. Progressief haarverlies start in het eerste levensdecennium en resulteert in nagenoeg volledig verlies (bij sommige patiënten kunnen schaarse, fijne en korte haren overblijven) van haar van de scalp tegen het derde levensdecennium. Lichaams-, oksel- en gezichtsbeharing (inclusief wenkbrauwen, wimpers en baard) zijn niet aangetast. Tanden en nagels ontwikkelen normaal."},"pt":{"name":"Hipotricose simples do couro cabeludo","definition":"A hipotricose simples do couro cabeludo (HSS) é caracterizada por perda difusa progressiva de pêlos que está confinada ao couro cabeludo."},"pl":{"name":"Hipotrichoza prosta skóry głowy","synonyms":["Dziedziczna hipotrichoza skóry głowy"]},"cs":{"name":"Hypotrichosis simplex vlasaté části hlavy","synonyms":["Dědičná hypotrichosis simplex skalpu"]},"uk":{"name":"Простий гіпотрихоз волосистої частини голови","synonyms":["Спадковий простий гіпотрихоз волосистої частини голови"],"definition":"Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp."},"zh":{"name":"先天性头皮单纯少毛症","synonyms":["遗传性头皮单纯少毛症"]},"tr":{"name":"Kafa derisinin hipotrikoz simpleksi","synonyms":["Kafa derisinin kalıtsal hipotrikoz simpleksi"]}},"xrefs":[{"source":"OMIM","code":"146520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613981","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L65.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"524511476"},{"source":"MONDO","code":"0019575","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840299","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]}],"children":[],"genes":[{"symbol":"CDSN","name":"corneodesmosin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12754508[PMID]","hgnc":"1802","ensembl":"ENSG00000204539","omim":"602593","loci":["6p21.33"]},{"symbol":"KRT74","name":"keratin 74","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21188418[PMID]","hgnc":"28929","ensembl":"ENSG00000170484","omim":"608248","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-12","source":"23746069[PMID]_28873114[PMID]_ 31663161[PMID]","terms":[{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100038","label":"Slow-growing scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003193","label":"Allergic rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100134","label":"Abnormality of the axillary hair","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100133","label":"Abnormality of the pubic hair","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002550","label":"Absent facial hair","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004528","label":"Generalized hypotrichosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0007550","label":"Hypohidrosis or hyperhidrosis","frequency":"Excluded (0%)","criteria":null}]}}