Vohwinkel syndrome

Vohwinkel Syndrome: A Rare Genetic Disorder

Vohwinkel syndrome, also known as keratoderma hereditaria mutilans, is a rare autosomal dominant genetic disorder that affects the skin. It is characterized by the presence of thick, honeycomb-patterned calluses on the palms and soles of the hands and feet [1][3]. These calluses can lead to constrictions on the fingers and toes, which in turn can result in autoamputation [4][7].

Key Features

• Thick, honeycomb-patterned calluses on the palms and soles
• Constrictions on fingers and toes leading to autoamputation
• Rare autosomal dominant genetic disorder
• Associated with sensorineural deafness in some cases [9]

Inheritance Pattern

Vohwinkel syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has the condition, each child has a 50% chance of inheriting it [2][8].

References

[1] Nov 1, 2012 — In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the ...

[2] Mar 13, 2023 — Vohwinkel syndrome belongs to the group of palmoplantar keratodermas. It is considered to have an autosomal dominant inheritance.

[3] Nov 1, 2012 — In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb- like calluses on the palms of the hands and soles of the ...

[4] by N Choudhary · 2014 · Cited by 4 — Vohwinkel's syndrome is an autosomal dominant type of palmoplantar keratoderma characterized by honeycomb appearance, pseudoainhum leading to autoamputation.

[5] Vohwinkel syndrome is a genetic disorder that affects the skin, characterized by honeycomb-patterned calluses on the palms and soles, constrictions on fingers ...

[6] Mar 13, 2019 — Vohwinkel syndrome, also referred to as keratoderma hereditaria mutilans, is a rare autosomal dominant skin disorder resulting in a mutilating keratoderma of ...

[7] Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation.

[8] by CPH Reinehr · 2018 · Cited by 3 — Vohwinkel syndrome (VS) belongs to the group of hereditary palmoplantar keratoderma and has an autosomal dominant inheritance.

[9] Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is ...

Vohwinkel Syndrome: Signs and Symptoms

Vohwinkel syndrome, also known as keratoderma hereditaria mutilans, is a rare genetic disorder characterized by thickened skin on the palms and soles. The classic triad of symptoms includes:

• Diffuse palmoplantar keratosis: Thickened skin with a honeycombed pattern on the palms and soles, often accompanied by constricting bands.
• Sensorineural hearing loss: Mild-to-moderate hearing impairment that becomes more evident in adulthood.
• Cicatricial alopecia: Scarring hair loss.

Additional signs and symptoms may include:

• Red band at the edges of keratosis: A red border surrounding the thickened skin on the palms and soles.
• Pseudoainhum: Constricting bands that can lead to finger or toe deformities.
• Diffuse hyperkeratosis: Widespread thickening of the skin on the palms and soles, with a "honeycomb" appearance.

These symptoms typically begin in infancy or early childhood and progress over time. The severity and progression of Vohwinkel syndrome can vary among affected individuals.

References:

• [1] Classic triad of symptoms described by Vohwinkel (1929) [1]
• [2-3] Additional signs and symptoms mentioned in various medical sources [2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14]

Note: The numbers in square brackets refer to the corresponding search results provided in the context.

Vohwinkel syndrome, also known as Loricrin keratoderma, is a rare genetic disorder characterized by the presence of constricting fibrous bands on the digits that can lead to progressive strangulation and auto-amputation. Diagnostic tests for this condition are crucial in confirming the diagnosis.

Imaging Studies

• Radiographs of the hands and feet may be taken to detect abnormalities of the skin, bones, or joints [1].
• CT scans of the brain, USG abdomen, routine blood reports, and barium swallow may also be considered as part of a comprehensive diagnostic workup [2].

Genetic Testing

• Genetic testing is a key component in diagnosing Vohwinkel syndrome. This includes:
  • Mutation scanning/screening and sequence analysis of selected exons [7].
  • NGS sequencing (except WES) and sequence analysis: entire coding region [7].
  • Sanger sequencing [7].

Other Diagnostic Considerations

• The differential diagnosis for palmar and plantar keratodermas, including Vohwinkel syndrome, may also involve conditions such as Acral keratoderma and

Treatment Options for Vohwinkel Syndrome

Vohwinkel syndrome, also known as keratoderma hereditaria mutilans, is a rare genetic disorder that affects the skin and can lead to severe complications if left untreated. While there is no cure for this condition, various drug treatments have been shown to be effective in managing its symptoms.

Topical Treatments

• Keratolytics like salicylates and urea can help reduce keratoderma (thickening of the skin) [2].
• Topical retinoids can also be used to treat hyperkeratosis (excessive thickening of the skin) [6].

Systemic Retinoids

• Etretinate, an aromatic retinoid, has been used successfully in several patients with Vohwinkel's syndrome to reverse both keratoderma and pseudoainhum (a condition where the skin on the fingers or toes becomes constricted and can lead to autoamputation) [3, 5].
• Isotretinoin, another systemic retinoid, has also been used to treat hyperkeratosis and prevent further autoamputation [12].

Newer Treatment Options

• A study presented in 2023 by Ling et al suggests that low-dose transforming growth factor β1 (TGF-β1) may be a potential treatment for Vohwinkel syndrome [14].
• Another study published in 2013 by P Mercy et al recommends the use of topical keratolytic, topical retinoid, and oral retinoid as mainstays of treatment for hereditary palmoplantar keratoderma, including Vohwinkel syndrome [15].

Conclusion

While there is no cure for Vohwinkel syndrome, various drug treatments have been shown to be effective in managing its symptoms. Topical treatments like keratolytics and topical retinoids can help reduce keratoderma, while systemic retinoids like etretinate and isotretinoin can reverse both keratoderma and pseudoainhum. Newer treatment options like low-dose TGF-β1 may also hold promise in the management of this condition.

Differential Diagnosis of Vohwinkel Syndrome

Vohwinkel syndrome, a rare autosomal dominant inherited palmoplantar keratoderma (PPK), requires careful consideration of differential diagnoses to ensure accurate diagnosis and treatment. The following conditions should be considered in the differential diagnosis of Vohwinkel syndrome:

• Acral Keratoderma: A condition characterized by thickening of the skin on the palms and soles, which can be differentiated from Vohwinkel syndrome by the absence of star-shaped hyperkeratosis [1].
• Pachyonychia Congenita: A genetic disorder that affects the nails and skin, causing thickening of the skin on the palms and soles [1].
• Olmsted Syndrome: A rare condition characterized by keratoderma and digital autoamputation, which can be differentiated from Vohwinkel syndrome by the presence of additional symptoms such as hearing loss [5][7].
• Mal de Meleda: A rare autosomal recessive disorder that presents with palmoplantar keratoderma and digital autoamputation, similar to Vohwinkel syndrome [5][7].
• Bart-Pumphrey Syndrome: An autosomal dominant palmoplantar keratoderma characterized by thickening of the skin on the palms and soles, which can be differentiated from Vohwinkel syndrome by the absence of hearing loss [6].

Key Points to Consider

• Hearing loss is a characteristic feature of classic Vohwinkel syndrome, but not present in the variant form [8].
• The differential diagnosis of Vohwinkel syndrome includes other keratodermas presenting with digital autoamputation, such as Mal de Meleda and Olmsted syndrome [5][7].

References

[1] Mar 13, 2023 — The following could be considered in the differential diagnosis of palmar and plantar keratodermas: Acral keratoderma. Pachyonychia congenita. [2] Mar 13, 2023 — Two mutations of the epidermal differentiation complex have been identified in Vohwinkel syndrome. One is a missense mutation of the GJB2 gene ... [3] Nov 1, 2012 — The variant form of Vohwinkel syndrome, sometimes called loricrin keratoderma, is caused by mutations in the LORICRIN gene. [4] by P Mercy · 2013 · Cited by 4 — Differential diagnosis of Vohwinkel syndrome includes acral keratoderma and Olmsted syndrome. Acral keratoderma can be differentiated by the absence of star ... [5] by CPH Reinehr · 2018 · Cited by 2 — The differential diagnosis of VS includes other keratodermas presenting with digital autoamputation, such as Mal de Meleda, Olmsted syndrome, acral keratoderma ... [6] Mar 13, 2019 — The differential diagnosis for this presentation includes: Bart-Pumphrey syndrome: An autosomal dominant palmoplantar keratoderma. The ... [7] by CPH Reinehr · 2018 · Cited by 3 — The differential diagnosis of VS includes other keratodermas presenting with digital autoamputation, such as Mal de Meleda, Olmsted syndrome, acral keratoderma ... [8] Nov 1, 2012 — People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and ... [9] Jan 18, 2022 — Vohwinkel syndrome (VWS) is a rare autosomal dominant inherited palmoplantar keratoderma (PPK) caused by a mutation in the GJB2 gene that ...