Vohwinkel Syndrome

Front 1

Vohwinkel Syndrome

Back 1

Front 2

Synonym

Back 2

PPK mutilans
Keratoderma hereditaria mutilans

Front 3

Inheritance

Back 3

Autosomal dominant: classic form with deafness: GJB2 gene on 13q] 1 12
Loricrin variant: loricrin gene on the epidermal differentiation complex (EDC) on 1q21

Front 4

Prenatal

Back 4

DNA analysis if gene defect known

Front 5

Incidence

Back 5

Rare, M=F

Front 6

Age at Presentation

Back 6

Infancy to early childhood; pseuodainhurn/autoamputation later childhood adulthood

Front 7

Pathogenesis

Back 7

Classic variant with deafness caused by a GJB2 gene mutation encoding connexin 26. a gap junction protein A mutation in the loricrin gene, a protein important in the formation of the cornified cell envelope produces the phenotype associated with ichthyosis and not deafness

Front 8

Clinical

Back 8

Skin
Diffuse honeycombed PPK
Digital constriction bands with autoarnputation (pseudo ainhum) increased on the fifth digit
Starfish shaped keratotic plaques on dorsum of hands, feet, elbows, and knees; linear keratoses of elbows and knees; mild, generalized ichthyosis with flexural accentuation in loricrin variant

Hair
Scarring alopecia

Ear Nose Throat
High frequency, nonprogressive hearing loss (classic variant)

Front 9

D/Dx

Back 9

Other forms of PPK

Front 10

Lab

Back 10

Hand/foot films

Front 11

Management

Back 11

Referral to dermatologist topical therapy, oral retinoids
Referral to hand surgeon surgical release of constriction bands
Hearing testing

Front 12

Prognosis

Back 12

Normal life span with potential for loss of digits and persistent keratoderma