Details of Disease

General Information of Disease (ID: DIS2MNKW)

Disease Name Keratosis follicularis spinulosa decalvans
Synonyms keratosis pilaris decalvans
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.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DISF0NF1: Keratosis
DISD96XN: Keratosis pilaris atrophicans
DISNFJES: Disorder of polyamine metabolism
DIS2MNKW: Keratosis follicularis spinulosa decalvans
Disease Identifiers
MONDO ID
MONDO_0000136
UMLS CUI
C0343057
MedGen ID
83355
Orphanet ID
2340
SNOMED CT ID
238626006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LRP1 TT9JAGO Supportive Autosomal dominant [1]
LRP1 TTF2V7I Strong GermlineCausalMutation [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
SAT1 DEMWO83 Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRP1 OTHTEH4G Supportive Autosomal dominant [1]
MBTPS2 OT67CC7W Supportive Autosomal dominant [3]
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References

1 Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet. 2015 Sep;52(9):599-606. doi: 10.1136/jmedgenet-2014-102931. Epub 2015 Jul 3.
2 Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.Clin Exp Dermatol. 2014 Mar;39(2):158-61. doi: 10.1111/ced.12248. Epub 2013 Dec 7.
3 Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335.