Keratosis follicularis spinulosa decalvans
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 37 |
| OrphanetNr: | 2340 |
| OMIM Id: |
308800
612843 |
| ICD-10: |
Q82.8 |
| UMLs: |
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| MeSH: |
C536159 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Keratosis pilaris atrophicans
-Rare genetic disease -Rare skin disease Secondary ectropion -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0004552) | Scarring alopecia of scalp | 3 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0000656) | Ectropion | 25 / 7739 | ||||
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(HPO:0000492) | Abnormality of the eyelid | Frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0000670) | Carious teeth | Occasional [Orphanet] | 145 / 7739 | |||
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(HPO:0000498) | Blepharitis | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0000682) | Abnormality of dental enamel | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0011073) | Abnormality of dental color | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0000509) | Conjunctivitis | 47 / 7739 | ||||
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(HPO:0001131) | Corneal dystrophy | 56 / 7739 | ||||
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(HPO:0000541) | Retinal detachment | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000491) | Keratitis | 21 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0000481) | Abnormality of the cornea | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0001041) | Facial erythema | 8 / 7739 | ||||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0008391) | Dystrophic fingernails | 6 / 7739 | ||||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000964) | Eczema | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0000982) | Palmoplantar keratoderma | 40 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0007502) | Follicular hyperkeratosis | 12 / 7739 | ||||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0030054) | Perifollicular fibrosis | 2 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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