67 results match your criteria: "Vohwinkel Syndrome"

Case: Vohwinkel syndrome is a rare, inherited condition marked by defective keratinization. The disorder may feature digital constriction bands (pseudoainhum) which can lead to autoamputation. Surgical excision is the only treatment of pseudoainhum; however, it is fraught with recurrence.

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Article Synopsis
  • Hereditary palmoplantar keratoderma is a rare genetic skin condition marked by thickening of the skin on the palms and soles, influenced by various genetic mutations affecting keratin-related proteins.
  • A case involving a 29-year-old HIV-positive African woman showcases the complexity of this condition, with her symptoms including painful constriction bands and skin thickening, which led to complications like toe amputation.
  • Genetic testing revealed uncertain findings related to specific genes, highlighting the challenges in diagnosis and emphasizing the need for early detection and proper treatment to improve patient quality of life.
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  • * This study reports on two variants found in affected families, including a novel pathogenic variant (c.639_642dup) and a rare variant (c.10C > T) of uncertain significance.
  • * Transcriptome analysis reveals that genes related to skin development are upregulated in LK lesions, while those involved in various essential functions are downregulated, providing insights into the disease's pathogenesis and potential implications for treatment and genetic counseling.
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As a novel nuclear factor E2-related factor 2 (NRF2) activator, the itaconate has shown significant therapeutic potential for oxidative stress diseases. However, its role in Vohwinkel syndrome in relation to the gap junction protein beta 2 (GJB2) mutation is still unclear. This study aimed at investigating the effect of 4-octyl itaconate (OI) on HaCaT and D66H cells and clarify its potential mechanism in vitro.

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Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.

Exp Dermatol

May 2023

Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital), Suzhou, China.

Article Synopsis
  • * A study focused on a 38-year-old Chinese male patient revealed biallelic variants in the LSS gene associated with his condition, specifically mutations c.683C>T (Thr228Ile) and c.779G>A (Arg260His).
  • * The research demonstrated that the Arg260His mutant had significantly reduced expression and no enzymatic activity, while the Thr228Ile mutant had partial activity, highlighting the connection between LSS mutations and mutilating PPK.
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  • * Research shows that lower levels of TGF-β1, a key cytokine in cell regulation, in VS keratinocytes may contribute to inhibited cell growth and development compared to normal cells.
  • * The study suggests that low doses of TGF-β1 can enhance keratinocyte proliferation and increase Cyclin D1 expression, offering new insights for potential treatments of VS.
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Article Synopsis
  • Palmoplantar keratodermas (PPK) are a group of skin disorders that worsen from childhood, making diagnosis and gene identification difficult.
  • A dermoscopic technique called the "furrow ink test" can help differentiate skin features in PPK, particularly in a specific type known as autosomal dominant loricrin keratoderma (LK), which shows a distinct pattern.
  • In a study of a Japanese family with LK, researchers noted that severe lesions presented an "irregular cobblestone appearance" rather than the typical honeycomb pattern, also highlighting a reduction in sweat glands linked to reduced sweating (hypohidrosis).
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  • Loricrin keratoderma is a rare skin disorder characterized by its early onset and genetic basis, but little is known about its progression and late-onset symptoms.
  • This study identified a specific genetic mutation (c.323 G>C) linked to late-onset loricrin keratoderma in a Chinese family through advanced DNA sequencing and skin biopsy analysis.
  • The research found that the mutation alters the location of loricrin in skin cells, causing abnormal accumulation in the cytoplasm, which may disrupt skin cell functions and contribute to the disorder's progression.
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  • - Vohwinkel Syndrome, or Keratoderma Hereditarium Mutilans, is a rare genetic skin condition characterized by "starfish" keratoses on fingers, thick skin on palms and soles, hearing loss, and constricting bands that can lead to autoamputation.
  • - Treatment options for the associated constricting bands (pseudoainhum) have been inconsistent, making management challenging for affected individuals.
  • - This study focuses on a case of a woman with Vohwinkel syndrome who underwent surgery for constriction bands on her pinky finger, and it includes a review of existing literature on managing the condition.
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  • Mutations in the GJB2 gene, which encodes Connexin 26, lead to various degrees of hearing loss and skin disorders, exemplified by a case of a 6-year-old girl with a specific mutation causing both issues.
  • Research using HeLa and HaCaT cells revealed that the mutations impacted cellular behavior, specifically leading to changes in protein localization, cell viability, and interactions with other connexins like Cx43.
  • The study found that the F142L mutation exhibited restricted channel permeability and was more deleterious to cell viability than another mutation (D66H), while also suggesting significant interactions between Cx43 and the mutant connexin proteins could be crucial to understanding the resulting clinical symptoms. *
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Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma.

J Dermatol Sci

February 2020

Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address:

Article Synopsis
  • Revertant mosaicism is when harmful genetic mutations in germline cells are spontaneously corrected in somatic cells, leading to a mix of different cell types from one fertilized egg, which can result in healthier tissue in conditions like genetic skin diseases.
  • This phenomenon can lead to milder symptoms in patients, with examples including small patches of healthy skin in diseases like ichthyosis with confetti (IWC) and loricrin keratoderma (LK), both of which show these revertant patches.
  • The mechanism behind this reversion is primarily through homologous recombination, suggesting that understanding how this works could lead to new therapeutic strategies for IWC, LK, and other genetic disorders.
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Revertant mosaicism is a phenomenon in which pathogenic mutations are rescued by somatic events, representing a form of natural gene therapy. Here, we report on the first evidence for revertant mosaicism in loricrin keratoderma (LK), an autosomal dominant form of ichthyosis caused by mutations in on 1q21.3.

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Article Synopsis
  • * A case study of a 31-year-old Chinese woman showed classic VS symptoms along with a specific mutation (c.175G>A) in the GJB2 gene, resulting in an amino acid change (G59S).
  • * This same mutation (G59S) has been linked to other conditions like Bart-Pumphrey syndrome, suggesting it may have diverse effects across different syndromes.
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Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum.

Clin Exp Dermatol

June 2019

Department of Plastic Surgery, Canniesburn Unit, Glasgow Royal Infirmary, Glasgow, UK.

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Vohwinkel syndrome: ichthyosiform variant in a family.

An Bras Dermatol

October 2018

Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre (RS), Brazil.

Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected.

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Ainhum - A Rare Case Report.

J Clin Diagn Res

April 2016

Assistant Professor, Department of General Surgery, Mahatma Gandhi Medical College & Research Institute, Sri Balaji Vidyapeeth , Pondicherry, India .

Article Synopsis
  • Ainhum is a medical condition characterized by constricting rings on the soft tissue of digits, primarily affecting the fifth toes, and is derived from an African term meaning 'to saw or cut'.
  • True ainhum, or dactylolysis spontanea, is distinct from pseudo-ainhum, which results from various hereditary and nonhereditary conditions.
  • The report discusses a rare case of true ainhum affecting only the left fourth toe, highlighting its prevalence in South Africa and South America, while noting its rarity in India and the importance of early diagnosis and treatment to prevent severe deformities.
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Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome.

Medicine (Baltimore)

February 2016

From the Department of Plastic Surgery, Peking Union Medical College Hospital, Beijing (MZ, KS, YW); Department of Neurosurgery, Qingdao Huangdao District Hospital of Traditional Chinese Medicine, Qingdao, Shandong (ND); and Department of Dermatology, Peking Union Medical College Hospital, Beijing, China (CS).

Article Synopsis
  • * A case was presented where constriction bands on the 5th digit were treated using a distant abdominal skin flap to reconstruct the affected area.
  • * The reconstructive surgery showed positive results, with satisfactory outcomes observed at the 18-month follow-up, despite the challenges of other treatment methods like topical keratolytics and systemic retinoids.
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Article Synopsis
  • - Vohwinkel syndrome (VS) is a rare genetic disorder with symptoms including thickened skin on palms and soles, skeletal abnormalities, and hearing loss, caused by mutations in the loricrin and connexin 26 (GJB2) genes.
  • - The disorder is inherited in an autosomal-dominant manner and typically becomes more noticeable in adulthood after appearing in infancy.
  • - A reported case includes a 23-year-old woman with hearing loss and specific mutations in the GJB2 gene, reinforcing the need to consider VS in patients presenting with similar symptoms.
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[Ainhum and "African acral keratoderma": three cases].

Ann Dermatol Venereol

March 2015

Service de dermatologie, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75010 Paris, France. Electronic address:

Article Synopsis
  • - Ainhum is a condition that leads to the gradual constriction of the fifth toe's fold, causing painful symptoms and potentially resulting in the autoamputation of the digit, especially notable in individuals of African descent.
  • - Three female patients from Mali, Guinea, and Senegal experienced severe pain in their fifth toes, which led to a diagnosis of ainhum, and they received effective relief through surgical intervention (Z-plasty) to address the constriction.
  • - These patients also exhibited various forms of hyperkeratosis affecting their hands and feet, indicating a higher prevalence of palmoplantar keratoderma among individuals of African origin.
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Reversal of pseudo-ainhum with acitretin in Camisa's syndrome.

Indian J Dermatol Venereol Leprol

May 2016

Department of Dermatology, Venereology and Leprosy, Grant Government Medical College, Mumbai, Maharashtra, India.

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