Download - Vohwinkel Syndrome vs. KID Syndrome
UCI DERMATOLOGYGRAND ROUNDSMARCH 30 , 2011
JENNIFER ARMSTRONG
Vohwinkel Syndrome vs. KID Syndrome
Connexin 26
Vohwinkel Syndrome and KID Syndrome are 2 clinically different syndromes both originating with missense mutation for Connexin 26 on Chrom 13.
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
Connexin & Hearing Loss Connection
Regulates K+ in Cochlea of inner ear.
Vohnwinkel Syndrome 2 Types
Both group of palmoplanter keratodermas
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
Vohwinkel Syndrome
……………………………………………………… Deafness, hearing impaired
…..…Palmoplanter Keratoderma, honeycomb appearance
………………………… Starfish shaped hyperkeratotic plaques
……………………………….………… autoamputation (pseudoainhum)
Treatment - Vohwinkel Syndrome
Rare Disease – Limited Options
Topical- Usually inadequate- Keratolytics (i.e salicylates, urea) - Retinoids
Systemic- Retinoids- Relapes after discontinue – almost all pts- Dose 60mg/Kg/PO
Surgical- Surgical release of constriction bands to
preserve digits
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
KID
Acanthosis of the skin with a heavy-grained leather appearance.………..……………..
Hyperkeratotic Plaques………………….…
………………..…………Vascularizing Keratitis
…….……..…..Palmar Keratoderma
Nail Dystrophy, ………………………………..fungal infections
KID
Three months of age is typical age of cutaneous presentation Can start as general erythema Sometimes diffuse scaling Leathery skin
Ichthyosis
Not a classic ichthyosis but more a erythrokeratoderma
None scaling verrucous plaques, forehead and
cheeks
79% alopecia sparse to totalalis
Key Findings
Hearing loss Always by age 7 Variable degrees Subsequent speech delay
Occular manifestations 95% Progressive Corneal vascularization Worsened by retinoids
Similarities
Vohwinkels Syndrome KID Syndrome
Connexin 26 Missense Mutation
Connexin 26 Missense Mutation
Hearing Loss Hearing LossPalmoplanter Keratoderma Palmoplanter Hyperkeratosis
Differences
KID Syndrome……………………. Alopecia………………………………. Occular Keratitis
……………………………………………………...................….……. Small Teeth………………………………..…………. Hyperkeratotic fixed plaques
……………………………………………………….…………. Leathering of skin
…………………………………..…………. Increased squamous cell carcinoma
…………………………………………………...………..….…. Nail dystrophy
Differences
Vohwinkel Syndrome
Intact hearing in ichthyosis association type……………….……………….
Autoamputation (Pseudoainhum)…………….……………………….
Star shaped plaques on dorsum of hands………………………….
Differences
Vohwinkels Syndrome KID Syndrome
- Retinoids improve - Retinoids worsen
References
• Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol. Jul 1994;131(1):1-14.
• Camisa C, Rossana C. Variant of keratoderma hereditaria mutilans (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 Acad Dermatol. 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-syndromic sensorineural 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.