{"orpha":2340,"name":"Keratosis follicularis spinulosa decalvans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2340/","orphanet_url":"https://www.orpha.net/en/disease/detail/2340","names":{"fr":{"name":"Kératose folliculaire spinulosa decalvans de Siemens","definition":"La kératose folliculaire spinulosa decalvans de Siemens est une génodermatose rare survenant au cours de la petite enfance ou de l'enfance et affectant surtout les garçons. Elle se caractérise par une hyperkératose folliculaire diffuse associée à une alopécie cicatricielle progressive du cuir chevelu, des sourcils et des cils. Les signes additionnels peuvent inclure une photophobie, une dystrophie cornéenne, un érythème facial et/ou une kératodermie palmoplantaire."},"de":{"name":"Keratosis follicularis spinulosa decalvans","definition":"Die Keratosis follicularis spinulosa decalvans ist eine seltene Genodermatose. Sie beginnt im Säuglings- oder Kindesalter. Betroffen sind überwiegend Knaben. Charakteristisch ist eine diffuse follikuläre Hyperkeratose in Verbindung mit fortschreitender vernarbender Alopezie der Kopfhaut, der Augenbrauen und Wimpern. Mögliche weitere Symptome sind Photophobie, Korneadystrophie, Gesichtserythem und/oder palmo-plantares Keratoderma."},"es":{"name":"Queratosis folicular espinulosa decalvante","definition":"La queratosis folicular espinulosa decalvante es una genodermatosis poco frecuente que se produce durante la infancia o la niñez, afectando predominantemente a varones y caracterizada por hiperqueratosis folicular difusa asociada con alopecia cicatricial progresiva del cuero cabelludo, cejas y pestañas. Entre los hallazgos adicionales puede incluirse fotofobia, distrofia corneal, eritema facial y/o queratodermia palmoplantar."},"it":{"name":"Cheratosi follicolare spinulosa decalvante di Siemens","definition":"La cheratosi follicolare spinulosa decalvante è una genodermatosi rara, ad esordio nel periodo neonatale o durante l'infanzia, che interessa prevalentemente i maschi, ed è caratterizzata da ipercheratosi follicolare diffusa, associata ad alopecia cicatrizionale del cuoio capelluto, delle sopracciglia e delle ciglia. Ulteriori sintomi sono la fotofobia, la distrofia corneale, l'eritema facciale e/o il cheratoderma palmoplantare."},"nl":{"name":"Keratosis follicularis spinulosa decalvans","definition":"Keratosis follicularis spinulosa decalvans is een zeldzame genodermatose die voorkomt tijdens de zuigelingentijd of de kindertijd, voornamelijk mannen treft, en gekarakteriseerd wordt door diffuse folliculaire hyperkeratose geassocieerd met progressieve cicatriciële alopecie van de hoofdhuid, wenkbrauwen en wimpers. Bijkomende bevindingen zijn onder meer fotofobie, hoornvliesdystrofie, gelaatserytheem, en/of palmoplantaire keratodermie."},"pt":{"name":"Queratose folicular espinulosa decalvante"},"pl":{"name":"Kolczyste rogowacenie mieszkowe wyłysiające","definition":"Kolczyste rogowacenie mieszkowe wyłysiające jest rzadką genodermatozą, ujawniającą się w niemowlęctwie lub dzieciństwie, z reguły u chłopców i charakteryzującą się rozsianym rogowaceniem mieszkowym związanym z postępującym bliznowaciejącym łysieniem w obrębie skóry głowy, brwi oraz rzęs. Ponadto może występować fotofobia, dystrofia rogówki, rumień twarzy i(lub) keratodermia dłoni i stóp."},"cs":{"name":"Keratosis follicularis spinulosa decalvans"},"uk":{"name":"Фолікулярний кератоз шипоподібний підривний","definition":"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma."},"zh":{"name":"棘状秃发性毛发角化病"},"tr":{"name":"Keratosis folikülaris spinulosa dekalvans"}},"xrefs":[{"source":"OMIM","code":"308800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604093","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612843","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED56","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"303213910"},{"source":"MONDO","code":"0000136","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343057","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6829","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":498,"name":"Keratosis pilaris atrophicans","classifications":[156,187]}],"children":[],"genes":[{"symbol":"SAT1","name":"spermidine/spermine N1-acetyltransferase 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12215835[PMID]","hgnc":"10540","ensembl":"ENSG00000130066","omim":"313020","loci":["Xp22.11"]},{"symbol":"LRP1","name":"LDL receptor related protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26142438[PMID]","hgnc":"6692","ensembl":"ENSG00000123384","omim":"107770","loci":["12q13.3"]},{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20672378[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-29","source":"26622157[PMID]_27663151[PMID]_33614716[PMID]_38087855[PMID]","terms":[{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025084","label":"Folliculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002287","label":"Progressive alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null}]}}