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12 Cards in this Set

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Vohwinkel Syndrome
Synonym
PPK mutilans
Keratoderma hereditaria mutilans
Inheritance
Autosomal dominant: classic form with deafness: GJB2 gene on 13q] 1 12
Loricrin variant: loricrin gene on the epidermal differentiation complex (EDC) on 1q21
Prenatal
DNA analysis if gene defect known
Incidence
Rare, M=F
Age at Presentation
Infancy to early childhood; pseuodainhurn/autoamputation later childhood adulthood
Pathogenesis
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
Clinical
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)
D/Dx
Other forms of PPK
Lab
Hand/foot films
Management
Referral to dermatologist topical therapy, oral retinoids
Referral to hand surgeon surgical release of constriction bands
Hearing testing
Prognosis
Normal life span with potential for loss of digits and persistent keratoderma