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Year : 2019  |  Volume : 20  |  Issue : 3  |  Page : 285-287

Vohwinkel's syndrome in three siblings – A case report


Department of Dermatology, Venerology and Leprology, SMS Medical College and Hospital, Jaipur, Rajasthan, India

Date of Web Publication28-Jun-2019

Correspondence Address:
Dr. Vijay Paliwal
92/208, Gokhale Marg, Ward 27, Sector 9, Mansarovar, Jaipur - 302 020, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_95_18

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How to cite this article:
Sharda S, Paliwal V, Chaturvedi P, Kuldeep CM. Vohwinkel's syndrome in three siblings – A case report. Indian J Paediatr Dermatol 2019;20:285-7

How to cite this URL:
Sharda S, Paliwal V, Chaturvedi P, Kuldeep CM. Vohwinkel's syndrome in three siblings – A case report. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Sep 19];20:285-7. Available from: http://www.ijpd.in/text.asp?2019/20/3/285/261881



Sir,

Vohwinkel's syndrome or keratoderma hereditaria mutilans is a rare palmoplantar keratosis, and both classic and variant forms have been reported. It is an autosomal dominant disorder with mutation in loricrin and connexion 26 genes; a recessive type has occasionally been reported.[1],[2],[3] It is characterized by diffuse “honeycomb-” like hyperkeratosis of the palms and soles, which progresses to “starfish-shaped” keratotic plaques on dorsa of hands and feet, and may also involve the wrists, forearms, elbows and knees, and pseudoainhum at the interphalangeal joints, which may cause autoamputation.

Here, we report a case of three siblings with classical Vohwinkel's syndrome.

A 15-year-old male presented to us with thickening, scaling, fissuring, and dryness of skin over both palms and soles since early childhood with worsening in winters. He had mild dryness and scaly lesions over the limbs in winters. He also had a complaint of gradually progressive, painless, mutilating constriction of the right fifth toe at the age of 12 years resulting in its autoamputation eventually with similar lesion developing in the left fifth toe a year later. There was no history of trauma or Raynaud's phenomenon or presence of any other systemic complaint.

Family history revealed that his two younger brothers also had similar complaints.

On examination, there was diffuse and marked hyperkeratosis and scaling of both palms and soles having wavy and reticulate appearance extending to both dorsi and Achilles tendon in all three brothers [Figure 1] and [Figure 2]. A few fingers had flexion deformity. There were erythematous, hyperkeratotic, and scaly plaques in antecubital and popliteal fossa. All nails were grossly thickened, curved, and shiny. There was constriction around the interphalangeal joint of the left fifth toe, and the right fifth metatarsophalangeal joint was amputated. Mucous membranes and other appendages were normal. No anomaly was detected in the systemic examination.
Figure 1: Showing diffuse and marked hyperkeratosis and scaling of both palms with wavy and reticulate appearance; flexion deformity of fingers seen

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Figure 2: Showing keratotic plaques extending to Achilles tendon; fibrous, constriction around the left little toe, autoamputated right little toe

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Routine laboratory investigations were normal. Audiometry showed sensorineural hearing loss in our patient. Fundoscopy, retinoscopy, serum lipid profile, and electrocardiogram were within normal limits. X-rays of the feet revealed fibrous constriction of the left fifth proximal phalanx with loss of phalanges in the right little toe.

Hematoxylin–eosin-stained skin biopsy specimen taken from the palm revealed massive orthokeratotic hyperkeratosis, acanthosis, hypergranulosis in the epidermis, whereas dermis was normal except few mononuclear inflammatory cells.

The group of hereditary palmoplantar keratodermas includes a wide spectrum of diseases characterized by diffuse or circumscribed thickening of the palms and soles differentiated on the basis of the mode of inheritance, age of onset, distribution of involvement, associated abnormalities, histopathological features, involvement of more than one ectodermic structure, prognosis, and response to therapy.

In 1929, Vohwinkel first described it in a 24-year-old woman and coined the term “keratoderma hereditarium mutilans,” to emphasize the mutilation caused by the associated pseudoainhum.[4]

The syndrome is classified into two variants: (1) classical or deafness-associated variant and (2) an ichthyosis-associated variant or Camisa's variant.[5],[6],[7] A variant associated with congenital hypotrichosis has also been reported which needs to be differentiated from Clouston's syndrome.[8] In classical syndrome, there is mutation of GJB2 gene coding connexin-26 and clinically presents as hyperkeratosis of palms and soles, constricting bands of the digits and starfish-shaped hyperkeratosis on the dorsal aspects of hands and feet. Digital constrictions are one of the most important features and usually appear in early childhood; however, its occurrence later in adulthood has been reported.[1],[2],[3] Constricting bands consist of fibrous connective tissue resembling scar tissue.[9]

The variant with ichthyosis has loricrin mutation on the epidermal differentiation complex on 1q21 and is characterized by palmoplantar keratoderma, generalized thin desquamation on extensor surfaces of the finger joints, and pseudoainhum.

Various associated findings such as congenital alopecia universalis, acanthosis nigricans, pseudopelade-type alopecia, deafness, deaf-mutism, high-tone acoustic impairment, ichthyosiform dermatoses, spastic paraplegia myopathy, nail changes, mental retardation, and bullous lesions on the soles have been reported.[3],[8]

Several hereditary disorders have palmoplantar keratoderma associated with digital constrictions such as  Mal de Meleda More Details, keratosis palmaris et plantaris hereditaria, keratosis striata, pachyonychia congenita, palmoplantar keratoderma of Sybert, palmoplantar keratoderma of Gamborg–Nielsen, Olmsted's syndrome, and congenital ectodermal defects. However, these disorders have distinctive features and thus can be easily differentiated from the mutilating keratoderma of Vohwinkel.[1]

The treatment is symptomatic and includes topical keratolytics and topical or systemic retinoids (etretinate and isotretinoin). Retinoid therapy may lead to resolution of keratoderma and digital constrictions improving social and occupational life of these patients. In some cases, reconstructive surgery such as excision of the constricting bands and use of Z-plasty flaps or skin grafting can be done.[1],[2],[3],[6]

Although there was limitation of access to genetic analysis in our setup, the patient's history and clinical findings were suggestive of Vohwinkel's syndrome with autosomal dominant inheritance.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Peris K, Salvati EF, Torlone G, Chimenti ST. Keratoderma hereditarium mutilans (Vohwinkel's syndrome) ass. with congenital deaf-mutism. Br J Dermatol 1995;132:617-20.   Back to cited text no. 1
    
2.
Vinsen O, Dieter M, Heiko T. Inherited disorders of cornification. In: Griffith C, Barker J, Bleiker T, Chalmers R, Creamer D, editors. Rook's Textbook of Dermatology. Part 6. 9th ed., Vol. 2. Ch. 65. Department of dermatology, University Hospital Műnster, Germany: John Wiley & Sons, Ltd.; 2016. p. 56-7.  Back to cited text no. 2
    
3.
Krol LA, Siegel D. Keratodermas. In: Bolognia LJ, Jorizzo LJ, Schaffer JV, editors. Dermatology. 3rd ed. New York: Elsevier; 2012. p. 877-8.   Back to cited text no. 3
    
4.
Vohwinkel K. Keratoma hereditaria mutilans. Arch Dermatol Syphilol 1929;158:354-64.   Back to cited text no. 4
    
5.
O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM, et al. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of vohwinkel syndrome. Clin Exp Dermatol 2002;27:243-6.   Back to cited text no. 5
    
6.
ul Bari A. Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. Dermatol Online J 2006;12:10.   Back to cited text no. 6
    
7.
Corte LD, Silva MV, Oliveira CF, Vetoratto G, Steglich RB, Borges J, et al. Vohwinkel syndrome, ichthyosiform variant – By camisa – Case report. An Bras Dermatol 2013;88:206-8.   Back to cited text no. 7
    
8.
Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F, et al. A new variant of vohwinkel syndrome: A case report. Dermatol Online J 2011;17:3.   Back to cited text no. 8
    
9.
Browne SG. Ainhum. Int J Dermatol 1976;15:348-50.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2]



 

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