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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 …

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

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  • 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.