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
Vohwinkel Syndrome and
KID Syndrome are 2
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
Facilitates small molecules
Connexin & Hearing Loss Connection
in Cochlea of
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
Treatment - Vohwinkel Syndrome
Rare Disease – Limited Options
- Usually inadequate
- Keratolytics (i.esalicylates, urea)
- Relapes after discontinue – almost all pts
- Dose 60mg/Kg/PO
- 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
Acanthosis of the
skin with a
Three months of age is typical age of cutaneous
Can start as general erythema
Sometimes diffuse scaling
Not a classic ichthyosis
but more a
None scaling verrucous
plaques, forehead and
79% alopecia sparse to
Always by age 7
Subsequent speech delay
Worsened by retinoids
• 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
• 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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