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Keratosis follicularis spinulosa decalvans
2 OMIM references -
2 associated genes
21 connected diseases
22 signs/symptoms
Disease Type of connection
BRESEK syndrome
Ichthyosis follicularis - alopecia - photophobia
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Congenital muscular dystrophy with hyperlaxity
Anaplastic ependymoma
Cone rod dystrophy
Congenital fibrosis of extraocular muscles
Hereditary combined deficiency of vitamin K-dependent clotting factors
Idiopathic CD4 lymphocytopenia
Leigh syndrome with cardiomyopathy
Monomelic amyotrophy
Polymicrogyria due to TUBB2B mutation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536159
Gene symbol UniProt reference OMIM reference
MBTPS2 O43462300294
SAT1 P21673313020
Very frequent
- Absent / decreased / thin eyebrows
- Alopecia
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Thick skin / pachydermia / orange skin
- X-linked recessive inheritance

Frequent
- Abnormal fingernails
- Anomalies of eyelids, eyelashes and lacrimal system
- Blepharitis / eyelid inflammation
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal clouding / opacity / vascularisation
- Ectropion / entropion / eyelid eversion
- Myopia
- Retinal detachment

Occasional
- Dental staining anomaly / spotted teeth / erythrodontia
- Eczema
- Enamel anomaly
- Multiple caries