| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital keratoderma |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic punctate palmoplantar keratoderma disease with characteristics of discrete focal punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Leukokeratosis of skin |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Acquired acanthosis nigricans |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Rough skin of hands |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Ichthyosis |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Follicular keratosis (disorder) |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Porokeratosis of Mibelli |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Congenital ichthyosis of skin |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Acquired ichthyosis |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Harlequin fetus |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Ichthyosis hystrix |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Drug-induced ichthyosiform reaction |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Malignant acanthosis nigricans (disorder) |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
FHIR