Vohwinkel syndrome Flashcards
(17 cards)
What type of inheritance is associated with Vohwinkel syndrome?
Autosomal dominant
What gene is associated with the classic form of Vohwinkel syndrome that includes deafness?
GJB2 gene on 13q11-12
What gene is associated with the ichthyosiform variant of Vohwinkel syndrome?
LOR (loricrin) gene within the epidermal differentiation complex (EDC) on chromosome 1q21
How can prenatal diagnosis of Vohwinkel syndrome be conducted?
DNA analysis if gene defect known
What is the incidence rate of Vohwinkel syndrome?
Rare; M = F
What is the typical age at presentation for Vohwinkel syndrome?
Infancy to early childhood with later onset reported
What mutation causes the classic variant of Vohwinkel syndrome with deafness?
GJB2 gene mutation encoding connexin 26
What is the pathogenesis of the ichthyosiform variant of Vohwinkel syndrome?
Mutation in LOR encoding loricrin, important in cornified cell envelope formation
What are the key skin features of Vohwinkel syndrome?
- Confluent (diffuse) honeycombed PPK
- Digital constriction bands with autoamputation (pseudoainhum)
- “Starfish”-shaped keratotic plaques on knuckles, feet, elbows, and knees
- Linear keratoses of elbows and knees
- Mild, generalized ichthyosis with flexural accentuation in loricrin variant
What hair feature may be present in some patients with Vohwinkel syndrome?
Scarring alopecia
What is the ear-nose-throat finding in the classic variant of Vohwinkel syndrome?
High frequency, nonprogressive hearing loss
What should be included in the differential diagnosis of Vohwinkel syndrome?
Other forms of PPK
What laboratory data may be used in the assessment of Vohwinkel syndrome?
Hand/foot films
What type of care is recommended for managing Vohwinkel syndrome?
Multispecialty care
What referral is suggested for topical therapy and oral retinoids in Vohwinkel syndrome?
Referral to dermatologist
topical therapy, oral retinoids
What surgical intervention may be necessary for patients with constriction bands?
Surgical release of constriction bands
What is the prognosis for individuals with Vohwinkel syndrome?
Normal life span with potential for loss of digits and persistent keratoderma
