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Year : 2014  |  Volume : 3  |  Issue : 2  |  Page : 114-117

Focal palmoplantar keratoderma with mutilating arthropathy: An interesting case report

Bendapudi Venkata Ramachandra, Krishna PV Rao, V Hithyshi, Lakshmi S Jhansi, India

Date of Web Publication20-Jun-2014

Correspondence Address:
V Hithyshi
303, Chandrapriya Residency, Adimurthy Nagar, Anantapur - 515 001, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-8632.134860

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Vohwinkel syndrome, characterized classically by a triad of diffuse honeycomb hyperkeratosis of palms and soles; star-shaped hyperkeratosis on the dorsa of hands, feet, knees, and elbows; and pseudoainhum is a rare type of hereditary form of palmoplantar keratoderma (PPK) which can present as two classical variants: Deafness associated variant and ichthyosis associated variant. Here we report a rare variant of hereditary PPK in a 22-year-old male patient presenting as focal PPK with striate hyperkeratosis on elbows and knees and mutilating arthropathy in addition to deafness and prognathism, the diagnosis being supported by histopathology, X-rays, and genetic mapping showing connexin defect. There are umpteen numbers of genetically inherited PPK syndromes associated with closely mimicking cutaneous features, autoamputation, and a wide range of systemic manifestations, where the differentiation of specific entities is always a difficult task. The present case is probably the first of its kind being reported from India.

Keywords: Connexin gene, PPK, pseudoainhum, Vohwinkel syndrome

How to cite this article:
Ramachandra BV, Rao KP, Hithyshi V, Jhansi LS. Focal palmoplantar keratoderma with mutilating arthropathy: An interesting case report. J NTR Univ Health Sci 2014;3:114-7

How to cite this URL:
Ramachandra BV, Rao KP, Hithyshi V, Jhansi LS. Focal palmoplantar keratoderma with mutilating arthropathy: An interesting case report. J NTR Univ Health Sci [serial online] 2014 [cited 2023 Feb 4];3:114-7. Available from: https://www.jdrntruhs.org/text.asp?2014/3/2/114/134860

  Introduction Top

Hereditary palmoplantar keratodermas (PPKs) are a group of heterogeneous skin disorders classified based upon their mode of inheritance, age of onset, morphology and distribution of palmoplantar thickening, presence of skin lesions elsewhere, histopathology, and prognosis. [1],[2]

Vohwinkel syndrome, first described in 1929 is a syndromic type of diffuse PPK with autosomal dominant inheritance characterized classically by a triad of diffuse hyperkeratosis of the palms and soles with honeycombing during infancy and becoming transgradient during childhood; star-shaped hyperkeratosis on the dorsa of hands, feet, knees, and elbows; and the pseudoainhum. Associated features like alopecia, deafness, spastic paraplegia, myopathy, ichthyosiform dermatoses, and nail abnormalities may be noted. [2],[3],[4],[5],[6] Based on molecular studies, two variants of Vohwinkel syndrome have been described: Deafness associated variant with a missense mutation of connexin 26 gene and ichthyosis associated variant with an insertional mutation of loricrin gene. [4]

Here we report a case of 22-year-old male with an extremely rare variant of Vohwinkel syndrome probably reported for the first time in India presenting as focal PPK and mutilating arthropathy associated with certain extracutaneous features and genetic abnormalities.

  Case report Top

A 22-year-old male patient presented to our outpatient department with palmoplantar thickening and loss of tips of digits from the ages of 3 and 21 years, respectively [Figure 1], [Figure 2], and [Figure 3]. Skin thickening started initially as small, nonpruritic lesions over palms and gradually progressed to involve the pressure bearing areas of palms and soles causing moderate hindrance to work, difficulty in walking, severe pain, and discoloration [Figure 1] and [Figure 2]. Loss of nails, prognathism, and hoarseness of voice were also noted. He complained of mild hearing loss. There was no history of sweating and teeth abnormalities, angular cheilitis, dysphagia, muscle weakness, photosensitivity, and photophobia. He had a history of recurrent infections both cutaneous and systemic for the past 16 years. He suffered from tuberculosis at the age of 3 years. Rest of the systemic history was normal.
Figure 1: Focal yellowish palmer thickening of right hand with honeycomb-like appearance encroaching onto the dorsum

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Figure 2: Focal plantar thickening with mutilation of great toe of right foot

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Born out of a first degree consanguineous marriage, though he did not suffer from any mental abnormality he suffered from developmental delay in speaking, walking, and dentition till 3 years of age. He had two brothers and one sister, out of whom only the elder male sibling survived [Figure 4].

On examination, the patient exhibited focal yellowish thickening of palms and soles with honeycomb like appearance encroaching onto the dorsa of hands and feet, mutilation of the thumb and middle finger of left hand and great toe of right foot, and starfish-shaped keratoses on the dorsa of fingers and knees [Figure 1], [Figure 2], [Figure 3], and [Figure 5]. Associated findings like sclerodactyly and flexion contractures of fingers were observed [Figure 3]. There were no hyperkeratotic periorifacial plaques. Hair, mucosa, and teeth were normal.
Figure 3: Mutilating arthropathy with pseudoainhum formation of thumb and middle finger of left hand

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Figure 4: The patient born out of consanguinity suffered from developmental delay and had only one surviving sibling among the total three

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Figure 5: Star-shaped hyperkeratosis on the knees

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Hemogram, serum biochemistry, and urine analysis were found to be normal. Audiometry showed conductive deafness of mild degree in contrast to common sensorineural deafness. X-rays of the extremities showed resorption and complete loss of terminal phalanges with periarticular osteopenia [Figure 6]. X-rays of skull showed forward protrusion of the mandible [Figure 7]. Doppler and nerve conduction studies were normal. On histopathological examination with hematoxylin and eosin stain hyperkeratosis with parakeratosis, hypergranulosis, and papillamatous acanthosis were noted [Figure 8]. Genetic mapping with gel electrophoresis showed connexin gene consisting of one intron and two exons, of which only the second exon was transcribed as polymerase chain reaction (PCR) product. Sequential analysis showed two variations that included 38 T > G and 61 G > C [Figure 9].
Figure 6: X-rays of right foot showing complete resorption of terminal phalanges with periarticular osteopenia

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Figure 7: X-rays of skull showing prognathism, forward protrusion of the mandible

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Figure 8: Hyperkeratosis with parakeratosis, hypergranulosis, and papillamatous acanthosis were noted on hematoxylin and eosin (H and E) stain and light microscopy under high power

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Figure 9: Genetic mapping with polymerase chain reaction (PCR) showed connexin gene with 38 T>G and 61 G>C variations on sequential analysis

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  Discussion Top

The diagnosis of Vohwinkel syndrome has been considered in the present case with focal PPK based on myriad of features like childhood onset, mutilation of digits, striate hyperkeratosis on elbows and knees, deafness, and prognathism, even though diffuse hyperkeratosis of palms and soles with honeycombing was absent [Figure 1], [Figure 2], [Figure 3], and [Figure 5]. This was supported by evidence from histopathology, X-rays, and Doppler study [Figure 6], [Figure 7], and [Figure 8]. The diagnosis was confirmed by genetic mapping of the connexin defect [Figure 9]. [1],[3],[7]

Differential diagnoses included various hereditary PPKs with digital constriction like Olmsted's syndrome, striate PPK, Mal de Meleda syndrome, pachyonychia congenita, acral keratoderma, PPK of Sybert, and PPK of Gamborg Nielsen.

Olmsted's syndrome, though similar in presentation with initial patchy PPK becoming diffuse and transgredient later on, spontaneous autoamputation of digits and flexion deformity, it differs by presence of additional features like periorificial, perineal, and perianal plaques and deformities of teeth, nails, and joints whose absence in the present case rules out its possibility [Figure 1] and [Figure 3]. [1] Striate PPK characterized by linear PPK with skin fragility and cardiac anomalies without associated pseudoainhum formation can be ruled out due to the presence of autoamputation of digits in the present case [Figure 3]. Mal de Meleda syndrome, characterized by progressive PPK with eczema, hyperhidrosis, perioral erythema, nail thickening, and koilonychias has been ruled out due to their absence in the present case. [1],[2] Pachyonychia congenita, a focal PPK with digital constriction associated additionally with grossly thickened curved nails and leukokeratosis of oral mucosa has been ruled out due to their absence in the present case. [1],[2] Acral keratoderma having a strong semblance to Vohwinkel syndrome has been ruled out by the presence of star-shaped keratoses in present case [Figure 5]. [1],[2],[8] PPK of Sybert clinically similar to the Vohwinkel differs by showing consistent involvement of the groins and gluteal cleft. [2],[9] PPK of Gamborg Nielsen differs from the present case by ultrastructural findings only. [2],[10]

  Conclusion Top

Various genetically inherited PPK syndromes characterized by autoamputation have been described with a fine margin of differences. The present case was diagnosed as Vohwinkel syndrome due to the presence of focal PPK of transgredient form, star-shaped hyperkeratoses on extensors, mutilating arthropathy, and deafness further confounded by connexin defect on genetic mapping.

  References Top

1.Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: An updated review and classification. Br J Dermatol 1994;131:1-14.  Back to cited text no. 1
2.Rani Z, Ahmad TJ, Hussain I. Vohwinkel's syndrome: Case report and review of literature. J Pak Assoc Dermatol 2003;13:92-6.  Back to cited text no. 2
3.Vohwinkel KH. Keratoma hereditaria mutilans. Arch Dermatol Syphilol 1929;158:354-64.   Back to cited text no. 3
4.ul Bari A. Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. Dermatol Online J 2006;12:10.  Back to cited text no. 4
5.Ali MM, Upadya GM. Variant of Vohwinkel's syndrome. Indian J Dermatol Venereol Leprol 2006;72:449-51.  Back to cited text no. 5
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6.Peris K, Salvati EF, Torlone G, Chimenti S. Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. Br J Dermatol 1995;132:617-20.   Back to cited text no. 6
7.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.   Back to cited text no. 7
8.Nesbitt LT Jr, Rothschild H, Ichinose H, Stein W 3 rd , Levy L. Acral keratoderma. Arch Dermatol 1975;111:763-8.   Back to cited text no. 8
9.Sybert VP, Dale BA, Holbrook KA. Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study. J Am Acad Dermatol 1988;18:75-86.   Back to cited text no. 9
10.Gamborg Nielsen P. Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. Clin Genet 1985;28:361-6.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]


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