Vohwinkel Syndrome vs. KID Syndrome, presented by Jennifer Armstrong. UCI Dermatology, Grand Rounds, March 30, 2011

1. U C I D E R M A T O L O G Y
G R A N D R O U N D S
M A R C H 3 0 , 2 0 1 1
J E N N I F E R A R M S T R O N G
Vohwinkel Syndrome vs. KID Syndrome

2. Connexin 26
Vohwinkel Syndrome and
KID Syndrome are 2
clinically different
syndromes both originating
with missense mutation for
Connexin 26 on Chrom 13.

3. What is a Connexin
 A protein which is the
building blocks that
forms channels in gap
junctions
 Facilitates small molecules
between cells
 Important intercellular
connections

4. Connexin & Hearing Loss Connection
Regulates K+
in Cochlea of
inner ear.

5. Vohnwinkel Syndrome 2 Types
 Both group of palmoplanterkeratodermas
 1 – Classical type with hearing loss
 Missense mutation of Connexin 26
 2 – Ichthyosis- associated type
 Insertional mutation of the loricrin gene
 Develop thick ridged envelope

6. Vohwinkel Syndrome
……………………………………………………… Deafness, hearing impaired
…..…Palmoplanter Keratoderma, honeycomb appearance
………………………… Starfish shaped hyperkeratotic plaques
……………………………….………… autoamputation (pseudoainhum)

7. Treatment - Vohwinkel Syndrome
 Rare Disease – Limited Options
Topical
- Usually inadequate
- Keratolytics (i.esalicylates, urea)
- Retinoids
Systemic
- Retinoids
- Relapes after discontinue – almost all pts
- Dose 60mg/Kg/PO
Surgical
- Surgical release of constriction bands to preserve digits

8. What is KID
 KID syndrome is a rare disorder characterized by
keratitis (with progressive corneal opacification),
ichthyosis, and deafness (neurosensory).
 Affects the epidermis but also Ectodermal tissue
 Predisposes patient to Squamous Cell Carcinoma on skin and tongue
 Also susceptible to bacterial, viral, and fungal infections

9. KID
Acanthosis of the
skin with a
heavy-grained
leather appearance.………..……………..
Hyperkeratotic Plaques………………….…
………………..…………VascularizingKeratitis
…….……..…..Palmar Keratoderma
Nail Dystrophy,
………………………………..fungal infections

10. KID
 Three months of age is typical age of cutaneous
presentation
 Can start as general erythema
 Sometimes diffuse scaling
 Leathery skin

11. Ichthyosis
 Not a classic ichthyosis
but more a
erythrokeratoderma
 None scaling verrucous
plaques, forehead and
cheeks
 79% alopecia sparse to
totalalis

12. Key Findings
 Hearing loss
 Always by age 7
 Variable degrees
 Subsequent speech delay
 Occular manifestations
 95%
 Progressive
 Corneal vascularization
 Worsened by retinoids

13. Similarities
Vohwinkels Syndrome KID Syndrome
Connexin 26
Missense Mutation
Connexin 26
Missense Mutation
Hearing Loss Hearing LossPalmoplanter Keratoderma Palmoplanter Hyperkeratosis

14. Differences
KID Syndrome
……………………. Alopecia
………………………………. OccularKeratitis
……………………………………………………...................….……. Small Teeth
………………………………..…………. Hyperkeratotic fixed plaques
……………………………………………………….…………. Leathering of skin
…………………………………..…………. Increased squamous cell carcinoma
…………………………………………………...………..….…. Nail dystrophy

15. Differences
Vohwinkel Syndrome
Intact hearing in ichthyosis association type……………….……………….
Autoamputation (Pseudoainhum)…………….……………………….
Star shaped plaques on dorsum of hands………………………….

16. Differences
Vohwinkels Syndrome KID Syndrome
- Retinoids improve - Retinoids worsen

17. References
• Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantarkeratoses: an updated review and
classification. Br J Dermatol. Jul 1994;131(1):1-14.
• Camisa C, Rossana C. Variant of keratodermahereditariamutilans (Vohwinkel's syndrome). Treatment with orally
administered isotretinoin. Arch Dermatol. Oct 1984;120(10):1323-8.
• Solis RR, Diven DG, Trizna Z. Vohwinkel's syndrome in three generations. J Am AcadDermatol. Feb 2001;44(2
Suppl):376-8.
• Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-
syndromicsensorineural deafness ?see comments?. Nature 1997; 387(6628): 80-3.
• Richard G: Connexins: A connection with the skin. Exp Dermatol 9:77, 2000.
• Jan AY et al: Genetic heterogeneity of KID syndrome: Identification of a Cx30 gene (GJB6) mutation in a patient with
KID syndrome and congenital atrichia. J Invest Dermatol 122:1108.
• Philip Fleckman, John J. DiGiovanna. Dermatology Part 2. Disorders Presenting in Skin and Mucous Membranes >
Section 7. Disorders of Epidermal Differentiation and Keratinization>Chapter 47. The Ichthyoses.
• Images from: Geneva Foundation for Medical Education and Research including images published in Journal of
Investigative Dermatolog, The American Journal of Human Genetics, Pediatric DermatologyVolume 15, Issue 3,
Article first published online: 16 MAR 2009.