|Year : 2015 | Volume
| Issue : 2 | Page : 108-109
Keratoderma hereditarium mutilans (Vohwinkel's syndrome)
Sweta Hasmukh Rambhia, Niranjana Raj, Madhu Suguna Madan, Bhanu Prakash
Department of Dermatology, Vydehi Institute of Medical College and Research Centre, Bengaluru, Karnataka, India
|Date of Web Publication||9-Apr-2015|
Sweta Hasmukh Rambhia
Umarshi Building, 109, SV Road, Malad West, Mumbai 400 064, Maharashtra
Source of Support: None, Conflict of Interest: None
Vohwinkel's syndrome is an autosomal dominant type of palmoplantar keratoderma characterized by honeycomb appearance, pseudoainhum leading to autoamputation, stellate keratosis on knuckles, and associated with sensorineural deafness.An Ichthyotic variant is recently described .We report a rare case of Vohwinkels syndrome with ichthyosis.
Keywords: Palmoplantar keratoderma, pseudoainhum, vohwinkles syndrome
|How to cite this article:|
Rambhia SH, Raj N, Madan MS, Prakash B. Keratoderma hereditarium mutilans (Vohwinkel's syndrome). Indian J Paediatr Dermatol 2015;16:108-9
|How to cite this URL:|
Rambhia SH, Raj N, Madan MS, Prakash B. Keratoderma hereditarium mutilans (Vohwinkel's syndrome). Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Dec 4];16:108-9. Available from: https://www.ijpd.in/text.asp?2015/16/2/108/152137
| Introduction|| |
Keratoderma hereditarium mutilans (Vohwinkels syndrome). Vohwinkel's syndrome is an autosomal dominant type of palmoplantar keratoderma characterized by honeycomb appearance, pseudoainhum leading to auto-amputation, stellate keratosis on knuckles, and associated with mild sensorineural deafness.
It has been reported sparingly from all over the world.
| Case report|| |
A 17-year-old female deaf-mute since birth born of nonconsanguinous marriage presented with persistent, painful palmoplantar keratoderma since childhood started at age of 4. No family members had these features. There was h/o significant weight loss since 8 months.
Palmoplanter keratoderma progressed steadily, and there was the development of fibrotic bands around fingers and toes since the age of around 12 years. These bands subsequently lead to auto-amputation of the fingers of both hands and toes of both legs. There were starfish-like keratoses over the knuckles and hyperkeratotic papules over the dorsum of both feet. A constriction band around little finger. Well-defined transgradient margins [Figure 1]a-c].
|Figure 1: (a) Plantar keratoderma with autoamputed toes. (b) Pseudoaihnum. (c) Transgradient margins|
Click here to view
Warty and linear plaques over the dorsal aspects of the hands feet.
Ichthyosis of the lower limb and multiple discharging sinuses at the hip were seen in this patient. Hair and nails were normal.
The histopathological findings consisted of marked hyperkeratosis, acanthosis, and focal hypergranulosis.
Though the patient did not have any complaints of sensory deficit, we asked for an audiogram which revealed mild-to-moderate sensory neural deficits in both ears.
Her chest radiograph showed right mid and lower zone consolidation.
Our patient was put on category I antitubercular therapy and topical keratolytic agents
- Radiograph of the pelvis showed left sacroiliac joint-osteomyelitis.
| Discussion|| |
In 1929, Vohwinkel first described this syndrome in a 24-year-old woman who had a diffuse honeycombed palmar and plantar keratosis, in addition to distal interphalangeal constrictions since 2 years of age. The constrictions ultimately led to auto-amputation. The patient also had mild-to-moderate sensorineural deafness.
Vohwinkel syndrome also known as "keratoderma hereditaria mutilans" and "mutilating palmoplantar keratoderma" is a rare autosomal dominant disorder although few sporadic cases have also been described. No racial and sex predominance is reported. The lesions start appearing in infancy or early childhood and gradually progress with age.
Two types of mutations of epidermal differentiation have been identified in Vohwinkel syndrome.
One is a novel missense mutation of the gap junction protein beta 2 (GJB2 gene) coding connexin-26, a gap junction protein. , This mutation is associated with the classic, sensorineural hearing loss-associated Vohwinkel syndrome.
Another mutation is an insertional mutation of the loricrin gene on the epidermal differentiation complex on 1q21. A phenotype associated with ichthyosis and not deafness is observed. 
An ichthyotic variant with a 730insG mutation  has recently been described.
A case report described a new variant of Vohwinkel syndrome with congenital hypotrichosis  in two siblings.
A novel missense mutation in GJB2, p.Tyr65His is found to be associated with severe Vohwinkel syndrome. 
Because of the rare occurrence of this syndrome, many treatment modalities are not described. Topical treatment is usually not sufficient. Keratolytics like salicylates and urea and topical retinoids can reduce keratoderma. Etretinate was first used for Vohwinkel's syndrome in 1981. Systemic retinoids can reverse keratoderma and pseudoainhum; however, relapse can occur on discontinuation of the drug. ,
Surgical release of the constriction bands in the form of z-plasty or cross finger flap have been described to preserve the digits. 
We here report a case of uncommon association of (Vohwinkel syndrome) keratoderma hereditarium mutilans with sensorineural deafness and ichthyosis.
While working up the case, we faced the limitation of access to genetic analysis in a resource-poor set-up. For that reason, we could not identify the mutation. We also presume that our case is a sporadic case as there was no clinical evidence of vertical transmission; neither there was any history of consanguinity. However, we understand that in the absence of genetic analysis of the case and her parents, it is difficult to conclusively establish the mode of transmission.
| Acknowledgement|| |
The Authors want to thank Priyadarshini Gaddagimath for her help and guidance.
| References|| |
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000;8:469-72.
Solis RR, Diven DG, Trizna Z. Vohwinkel's syndrome in three generations. J Am Acad Dermatol 2001;44 2 Suppl: 376-8.
Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, et al.
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol 2004;122:909-22.
Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet 2008;73:85-8.
Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F. A new variant of Vohwinkel syndrome: A case report. Dermatol Online J 2011;17:3.
De Zwart-Storm EA, van Geel M, Veysey E, Burge S, Cooper S, Steijlen PM, et al.
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. Br J Dermatol 2011;164:197-9.
Camisa C, Rossana C. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. Arch Dermatol 1984;120:1323-8.
Wereide K. Mutilating palmoplantar keratoderma successfully treated with etretinate. Acta Derm Venereol 1984;64:566-9.
Bassetto F, Tiengo C, Sferrazza R, Belloni-Fortina A, Alaibac M. Vohwinkel syndrome: Treatment of pseudo-ainhum. Int J Dermatol 2010;49:79-82.