Keratoderma hereditarium mutilans with ichthyosis

General Information (adopted from Orphanet):

Synonyms, Signs: MUTILATING KERATODERMA WITH ICHTHYOSIS
VOHWINKEL SYNDROME WITH ICHTHYOSIS
Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
loricrin keratoderma
Camisa disease
Vohwinkel syndrome - ichthyosis
Number of Symptoms 8
OrphanetNr: 79395
OMIM Id: 604117
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant diffuse mutilating palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease
Inherited ichthyosis nonsyndromic form
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
2
(HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
3
(HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
4
(HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
5
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
6
(HPO:0001036) Parakeratosis 12 / 7739
7
(HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
8
(HPO:0040162) Orthokeratosis 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Maestrini et al. (1996) studied a large kindred with a variant form of Vohwinkel syndrome without hearing loss, associated with ichthyosiform dermatosis. The kindred, which originated in the central Ohio region of the US, had previously been reported ...
Molecular genetics OMIM In an extended pedigree segregating an autosomal dominant variant form of Vohwinkel syndrome mapping to chromosome 1q21, Maestrini et al. (1996) sequenced the candidate gene loricrin and identified a heterozygous 1-bp insertion (730insG; 152445.0001). The authors stated that ...