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Vohwinkel syndrome, variant form

MedGen UID:
395099
Concept ID:
C1858805
Disease or Syndrome
Synonyms: VOHWINKEL SYNDROME WITH ICHTHYOSIS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Keratoderma hereditarium mutilans with ichthyosis syndrome (717183001); Camisa disease (717183001); Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome (717183001); Vohwinkel ichthyosis syndrome (717183001)
 
Gene (location): LOR (1q21.3)
OMIM®: 604117
Orphanet: ORPHA79395

Definition

Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss.The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.
[from GHR]

Clinical features

Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
Abnormality of the teeth
MedGen UID:
78084
Concept ID:
C0262444
Finding
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
MedGen UID:
427820
Concept ID:
CN000340
The following clinical features are unrelated to Vohwinkel syndrome, variant form

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVohwinkel syndrome, variant form
Follow this link to review classifications for Vohwinkel syndrome, variant form in Orphanet.

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