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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 Synd...
Connexin 26
Vohwinkel Syndrome and
KID Syndrome are 2
clinically different
syndromes both originating
with missense mutati...
What is a Connexin
 A protein which is the
building blocks that
forms channels in gap
junctions
 Facilitates small molec...
Connexin & Hearing Loss Connection
Regulates K+
in Cochlea of
inner ear.
Vohnwinkel Syndrome 2 Types
 Both group of palmoplanterkeratodermas
 1 – Classical type with hearing loss
 Missense mut...
Vohwinkel Syndrome
……………………………………………………… Deafness, hearing impaired
…..…Palmoplanter Keratoderma, honeycomb appearance
………...
Treatment - Vohwinkel Syndrome
 Rare Disease – Limited Options
Topical
- Usually inadequate
- Keratolytics (i.esalicylate...
What is KID
 KID syndrome is a rare disorder characterized by
keratitis (with progressive corneal opacification),
ichthyo...
KID
Acanthosis of the
skin with a
heavy-grained
leather appearance.………..……………..
Hyperkeratotic Plaques………………….…
………………..……...
KID
 Three months of age is typical age of cutaneous
presentation
 Can start as general erythema
 Sometimes diffuse sca...
Ichthyosis
 Not a classic ichthyosis
but more a
erythrokeratoderma
 None scaling verrucous
plaques, forehead and
cheeks
...
Key Findings
 Hearing loss
 Always by age 7
 Variable degrees
 Subsequent speech delay
 Occular manifestations
 95%
...
Similarities
Vohwinkels Syndrome KID Syndrome
Connexin 26
Missense Mutation
Connexin 26
Missense Mutation
Hearing Loss Hea...
Differences
KID Syndrome
……………………. Alopecia
………………………………. OccularKeratitis
……………………………………………………...................….……. Sm...
Differences
Vohwinkel Syndrome
Intact hearing in ichthyosis association type……………….……………….
Autoamputation (Pseudoainhum)……...
Differences
Vohwinkels Syndrome KID Syndrome
- Retinoids improve - Retinoids worsen
References
• Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantarkeratoses: an updated review and
classi...
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Vohwinkel Syndrome vs. KID Syndrome

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

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Transcript of "Vohwinkel Syndrome vs. KID Syndrome "

  1. 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. 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. 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. 4. Connexin & Hearing Loss Connection Regulates K+ in Cochlea of inner ear.
  5. 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. 6. Vohwinkel Syndrome ……………………………………………………… Deafness, hearing impaired …..…Palmoplanter Keratoderma, honeycomb appearance ………………………… Starfish shaped hyperkeratotic plaques ……………………………….………… autoamputation (pseudoainhum)
  7. 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. 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. 9. KID Acanthosis of the skin with a heavy-grained leather appearance.………..…………….. Hyperkeratotic Plaques………………….… ………………..…………VascularizingKeratitis …….……..…..Palmar Keratoderma Nail Dystrophy, ………………………………..fungal infections
  10. 10. KID  Three months of age is typical age of cutaneous presentation  Can start as general erythema  Sometimes diffuse scaling  Leathery skin
  11. 11. Ichthyosis  Not a classic ichthyosis but more a erythrokeratoderma  None scaling verrucous plaques, forehead and cheeks  79% alopecia sparse to totalalis
  12. 12. Key Findings  Hearing loss  Always by age 7  Variable degrees  Subsequent speech delay  Occular manifestations  95%  Progressive  Corneal vascularization  Worsened by retinoids
  13. 13. Similarities Vohwinkels Syndrome KID Syndrome Connexin 26 Missense Mutation Connexin 26 Missense Mutation Hearing Loss Hearing LossPalmoplanter Keratoderma Palmoplanter Hyperkeratosis
  14. 14. Differences KID Syndrome ……………………. Alopecia ………………………………. OccularKeratitis ……………………………………………………...................….……. Small Teeth ………………………………..…………. Hyperkeratotic fixed plaques ……………………………………………………….…………. Leathering of skin …………………………………..…………. Increased squamous cell carcinoma …………………………………………………...………..….…. Nail dystrophy
  15. 15. Differences Vohwinkel Syndrome Intact hearing in ichthyosis association type……………….………………. Autoamputation (Pseudoainhum)…………….………………………. Star shaped plaques on dorsum of hands………………………….
  16. 16. Differences Vohwinkels Syndrome KID Syndrome - Retinoids improve - Retinoids worsen
  17. 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.
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