What Are the Synonyms of Mutilating Keratoderma?
Following are the other names of mutilating keratoderma:
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Deafness, congenital, with keratin pachydermia and constrictions of fingers and toes.
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Keratoderma hereditarian mutilans.
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Vohwinkel syndrome.
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Palmoplantar keratoderma mutilans.
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Palmoplantar keratoderma mutilans Vohwinkel.
What Is Mutilating Keratoderma?
Mutilating keratoderma or Vohwinkel syndrome is described as honeycomb and papular keratoderma usually associated with constrictions of digits. Other features include autoamputation, specific starfish-like acral keratoses, and intermediate extents of sensorineural deafness. The disease is an autosomal genetic disorder. There are two forms of this condition that differ clinically from each other- classical and variant forms.
What Is the Frequency of Mutilating Keratoderma?
Vohwinkel syndrome is a rare disorder. In the medical literature, about fifty cases have been noted.
What Are the Causes of Mutilating Keratoderma?
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Mutations induce the ideal condition of Vohwinkel syndrome in the GJB2 (gap junction beta-2 protein) gene. This gene is typically known as connexin 26. Connexin 26 is a component of the connexin protein family. These proteins form channels called gap junctions that allow the transport of nutrients, ions, and signaling molecules between neighboring cells in contact with each other. Gap junctions made with connexin 26 mainly transport potassium ions.
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The gap junction beta-2 gene mutations induce Vohwinkel syndrome to transform single protein building blocks (amino acids) in connexin 26. The altered protein demolishes the role of normal connexin 26 in cells and impedes the position of other connexin proteins. This disruption impacts skin growth and tarnishes hearing by aggravating the conversion of sound waves to nerve impulses.
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The variant form of Vohwinkel syndrome, also known as loricrin keratoderma, occurs due to changes in the loricrin gene. This gene helps form a protein called loricrin, which is concerned with the production and maintenance of the epidermis.
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Transformations in the loricrin gene transform the configuration of the loricrin protein, and this altered protein remains enclosed within the cell and cannot surpass the keratinized envelope. While various other proteins partly equalize for the misplaced loricrin and the covering of some corneocytes is thinner than average in affected people, leading to ichthyosis and different skin abnormalities.
What Is the Inheritance of Mutilating Keratoderma?
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Mutilating keratoderma is inherited in an autosomal dominant routine. The disease can be induced by one single copy of the altered gene in each cell. In most cases, an affected person inherits the transformation from one of the concerned parents. While in some cases, genetic mutations with no history of inheritance are seen.
What Are the Clinical Features of Mutilating Keratoderma?
Mutilating keratoderma is a disorder having two forms:
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Classic form.
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Variant form.
Classic Form: In the classic form of Vohwinkel syndrome, the following features are seen:
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Thick, honeycomb-like calluses on the palms and soles of the hands and feet, respectively, are known as palmoplantar keratosis. This condition commences in infancy or early childhood.
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There are distinct starfish-shaped patches of thickened skin on the fingertips and toes or the knees.
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There is a development of tight bands of irregular fibrous tissue around their fingers and toes, known as pseudoainhum with the passing age.
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The bands prevent circulation to the digits and thus lead to an unexpected amputation.
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In the classic form of this disorder, the patients also suffer from hearing loss.
Variant Form: In the variant form of Vohwinkel syndrome, the following features are seen:
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There is generally dry, scaly skin (ichthyosis), particularly on the limbs. The ichthyosis is usually mild.
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There is a mild reddening of the skin, called erythroderma.
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In affected infants, there is the formation of a tight, clear sheath coating their skin called a collodion membrane. This membrane is generally shed off during the early weeks of life.
What Is the Treatment And Management of Mutilating Keratoderma?
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Oral retinoids such as Isotretinoin are used to treat hyperkeratotic callus-like lesions.
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Debridement (surgical removal of dead or necrotic skin tissue to induce wound healing) with a blade pursued by using a keratolytic agent such as urea, lactic acid, and salicylic acid-containing creams and lotions under occlusion is used.
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Surgical release of the digital constriction bands. In historical times, surgery was most commonly done to release these constrictions. Still, nowadays, low-dose oral retinoids are used to prevent and treat pseudoainhum, a condition in which there is a development of an acquired constricting ring around the digits. These oral retinoids are mainly used to evade amputation or surgery.
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Patients suffering from hearing loss are given cochlear implants.
What Is the Differential Diagnosis of Mutilating Keratoderma?
The following are the conditions that need to rule out from mutilating keratoderma:
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Bart-Pumphrey Syndrome: In this condition, there is non-mutilating palmoplantar keratoderma with deafness, knuckle pads, and leukonychia (white nails). There is no starfish-shaped keratosis in Bart-Pumphrey syndrome.
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Olmsted Syndrome: It is a very rare congenital (present from birth) disorder causing irregular enlargement and thickening of the skin.
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Papillon-Lefevre Syndrome: It is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and advanced aggressive periodontitis, leading to loss of deciduous and permanent dentition at a very immature age.
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Loricrin Keratoderma: It is inherited in an autosomal dominant manner and distinguished by a diffuse palmoplantar keratoderma.
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Mal de Meleda: It is a rare skin disorder that begins in early infancy. The affected individuals have a disorder known as palmoplantar keratoderma. It is a rare autosomal recessive palmoplantar keratoderma (PPK).
What Is the Prognosis of Mutilating Keratoderma?
The prognosis of mutilating keratoderma is good, with a normal lifespan.
What Are the Complications of Mutilating Keratoderma?
The following are the potential complications of mutilating keratoderma:
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Autoamputation of Digits: Autoamputation is the spontaneous amputation or detachment of an appendage or organ from the body.
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Persistent Keratoderma: It is characterized by hyperkeratosis of the soles and palms during menopausal age in women.
Conclusion:
Mutilating keratoderma Vohwinkel's syndrome is a distinctive disease characterized by palmar and plantar hyperkeratosis with a typical ′honeycomb′ formation starting prematurely in life, keratotic lesions in a regular ′starfish′-like format on the hands and feet, elbows and knees and constriction bands or rings enveloping the digits.
