RARE DISEASE
Bazex syndrome
Bazex syndrome
Bazex syndrome
Synonyms: Acrokeratosis of Bazex, Acrokeratosis paraneoplastica, Acrokeratosis paraneoplastica of Bazex
Synonyms: Acrokeratosis of Bazex, Acrokeratosis paraneoplastica, Acrokeratosis paraneoplastica of Bazex
Synonyms: Acrokeratosis of Bazex, Acrokeratosis paraneoplastica, Acrokeratosis paraneoplastica of Bazex
Drug discovery
31
papers
On emerging therapies
Overview
Bazex syndrome (acrokeratosis paraneoplastica) is a rare paraneoplastic dermatosis characterized by symmetric, psoriasiform eruptions on acral regions (ears, nose, hands, feet), nail dystrophy, and palmoplantar keratosis. It primarily signals underlying malignancies, particularly squamous cell carcinomas of the upper aerodigestive tract. Cutaneous lesions often precede cancer diagnosis by 6–12 months [1][4][6]. Histopathology shows nonspecific psoriasiform changes, and lesions typically resolve with tumor treatment [5][18].
Burden
Delayed diagnosis common due to psoriasis-like presentation, often leading to advanced cancer stages [1][4].
Persistent pruritus, disfiguring lesions, and nail changes significantly impact quality of life [12][18].
Mortality linked to cancer progression; early dermatologic recognition improves outcomes [12][19].
Categories: rare genetic diseases, rare neoplastic diseases, rare skin diseases
Research Papers
31 drug discovery papers about Bazex syndrome. Recent publications:
31 drug discovery papers about Bazex syndrome. Recent publications:
categories:
Small molecules
small molecules
2024-12-06 | Non-Small Cell Lung Cancer-A Case of the Bazex
Bazex syndrome is a rare form of paraneoplastic syndrome affecting the skin, rarely identified as an underlying cancer cause at presentation. The current case highlights, as well as a literature review of cases, a 76-year-old man with a smoking history and no skin medical history who had a delayed diagnosis of Non-Small Cell Lung Cancer (NSCLC). Initial pre-diagnosis skin plaque treatment failed, with progressing shortness of breath leading to a finding of lung cancer. Plaques were classical in this case and did respond to the chemotherapy as previously reported, but not previously noted with the combination used in this case. Although the skin plaques responded to treatment, the patient did eventually die of advancing lung cancer.
2024-05-28 | Non-Small Cell Lung Cancer – A Case of the Bazex
Bazex syndrome is a rare form of paraneoplastic syndrome, rarely identified as an underlying cancer at presentation. Predominately found in upper aero-digestive cancers and squamous cell lung carcinomas. Plaques on acral surfaces are common, described as psoriatic, often resolve after underlying anti-cancer therapy. This case presents a 76-year-old male with squamous cell non-small cell lung cancer suffering psoriatic lesions which respond chemotherapy and immunotherapy.
2023-06-01 | DP12 Painful oral keratosis and skin lesions: a paraneoplastic diagnostic conundrum
Abstract A 70-year-old man was referred to oral medicine with extensive, painful oral hyperkeratosis affecting the tongue, buccal mucosa and palate. Medical history included a previous diagnosis of prostate cancer. Histology from multiple oral biopsy specimens showed only hyperparakeratosis and acanthosis, with no fungi or dysplasia. Owing to the absence of oral inflammation, the pain was treated as neuropathic. The patient then developed skin lesions and dermatology review was requested. Skin examination revealed marked hyperkeratotic, verrucous plaques affecting the extensor surfaces of the limbs and dorsal hands, as well as the plantar feet bilaterally. The nails were unaffected. There was violaceous discolouration of the pinnae. Given the history of prostate cancer, a paraneoplastic process was suspected. Two incisional biopsies were taken, which showed epidermal acanthosis with necrotic and dyskeratotic keratinocytes throughout the epidermis. There was a dense eosinophilic inflammatory infiltrate. Direct and indirect immunofluorescence was negative. The appearances were suggestive of a paraneoplastic phenomenon, including acrokeratosis paraneoplastica. Haematological investigations identified an IgG monoclonal paraproteinaemia with raised kappa:lambda ratio. Following further investigation, including bone marrow biopsy and positron emission tomography computed tomography, a diagnosis of monoclonal gammopathy of undetermined significance was made by haematology. A repeat bone marrow biopsy 7 months later confirmed evolution to myeloma. As CRAB criteria (hypercalcaemia, renal insufficiency, anaemia and bone lesions) were absent, a period of observation followed. A trial of oral steroids improved the cutaneous eruption, but he developed significant side-effects. Oral mycophenolate, methotrexate and acitretin were used as steroid-sparing agents, with a poor clinical response. The skin lesions progressed to a widespread psoriasiform eruption on the trunk and lower limbs with the formation of bullae. Further biopsies showed an eosinophil-rich infiltrate with negative immunofluorescence, raising the possibility of an eosinophilic dermatosis of haematological malignancy. After 2 years, given the worsening skin symptoms, it was decided to commence bortezomib, cyclophosphamide and dexamethasone (VCD) chemotherapy. Despite four cycles of VCD treatment, the skin lesions worsened and as the paraprotein levels did not reduce, treatment was stopped. Subsequently, further elevations in serum free light chains prompted treatment with lenalidomide. This resulted in a marked improvement in the skin and reduced pain from the oral lesions, as well as a reduction in serum free light chains. Acrokeratosis paraneoplastica (Bazex syndrome) is characterized by digital hyperkeratosis and paronychia, which may progress to involve the limbs and trunk. Eosinophilic dermatosis of haematological malignancy is characterized by a pruritic, papular skin eruption with a vesiculobullous component. This case presents a diagnostic conundrum, with evolving features of two different paraneoplastic conditions.
2022-12-01 | Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
Abstract Background Bazex–Dupré–Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11·4-Mb interval on chromosome Xq25-q27.1. However, the genetic mechanism of BDCS remains an open question. Objectives To investigate the genetic aetiology and molecular mechanisms underlying BDCS. Methods We ascertained multiple individuals from eight unrelated families affected with BDCS (F1–F8). Whole-exome (F1 and F2) and genome sequencing (F3) were performed to identify putative disease-causing variants within the linkage region. Array comparative genomic hybridization and quantitative polymerase chain reaction (PCR) were used to explore copy number variations, followed by long-range gap PCR and Sanger sequencing to amplify the duplication junctions and to define the head–tail junctions. Hi-C was performed on dermal fibroblasts from two affected individuals with BDCS and one control. Public datasets and tools were used to identify regulatory elements and transcription factor binding sites within the minimal duplicated region. Immunofluorescence was performed in hair follicles, BCCs and trichoepitheliomas from patients with BDCS and sporadic BCCs. The ACTRT1 variant c.547dup (p.Met183Asnfs*17), previously proposed to cause BDCS, was evaluated with t allele frequency calculator. Results In eight families with BDCS, we identified overlapping 18–135-kb duplications (six inherited and two de novo) at Xq26.1, flanked by ARHGAP36 and IGSF1. Hi-C showed that the duplications did not affect the topologically associated domain, but may alter the interactions between flanking genes and putative enhancers located in the minimal duplicated region. We detected ARHGAP36 expression near the control hair follicular stem cell compartment, and found increased ARHGAP36 levels in hair follicles in telogen, in BCCs and in trichoepitheliomas from patients with BDCS. ARHGAP36 was also detected in sporadic BCCs from individuals without BDCS. Our modelling showed the predicted maximum tolerated minor allele frequency of ACTRT1 variants in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss of function of ACTRT1 variants to be an unlikely cause for BDCS. Conclusions Noncoding Xq26.1 duplications cause BDCS. The BDCS duplications most likely lead to dysregulation of ARHGAP36. ARHGAP36 is a potential therapeutic target for both inherited and sporadic BCCs. What is already known about this topic? Bazex–Dupré–Christol syndrome (BDCS) is a rare X-linked basal cell carcinoma susceptibility syndrome linked to an 11·4-Mb interval on chromosome Xq25-q27.1.Loss-of-function variants in ACTRT1 and its regulatory elements were suggested to cause BDCS. What does this study add? BDCS is caused by small tandem noncoding intergenic duplications at chromosome Xq26.1.The Xq26.1 BDCS duplications likely dysregulate ARHGAP36, the flanking centromeric gene.ACTRT1 loss-of-function variants are unlikely to cause BDCS. What is the translational message? This study provides the basis for accurate genetic testing for BDCS, which will aid precise diagnosis and appropriate surveillance and clinical management.ARHGAP36 may be a novel therapeutic target for all forms of sporadic basal cell carcinomas.
2022-02-17 | Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
Abstract Background Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11.4 Mb interval on chromosome Xq25-27.1. However, the genetic mechanism of BDCS remains an open question. Methods To investigate the genetic etiology of BDCS, we ascertained eight families with individuals affected with BDCS (F1-F8). Whole exome (F1 and F2) and genome sequencing (F3) were performed to identify putative disease-causing variants within the linkage region. Array-comparative genomic hybridization and quantitative PCR were used to explore copy number variations (CNV) in BDCS families, followed by long-range gap-PCR and Sanger sequencing to amplify duplication junction and define the precise head-tail junctions, respectively. Immunofluorescence was performed in hair follicles, BCCs and trichoepitheliomas from BDCS patients and sporadic BCCs to detect the expression of corresponding genes. The ACTRT1 variant (p.Met183Asnfs*17), previously proposed to cause BDCS, was evaluated with allele frequency calculator. Results In eight BDCS families, we identified overlapping 18-135kb duplications (six inherited and two de novo ) at Xq26.1, flanked by ARHGAP36 and IGSF1 . We detected ARHGAP36 expression near the control hair follicular stem cells compartment, and found increased ARHGAP36 levels in hair follicles in telogen, BCCs and trichoepitheliomas from patients with BDCS. ARHGAP36 was also detected in sporadic BCCs from individuals without BDCS. Our modelling showed the predicted ACTRT1 variants maximum tolerated minor allele frequency in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss-of-function of ACTRT1 is unlikely to cause BDCS. Conclusions Our data support the pathogenicity of intergenic duplications at Xq26.1, most likely leading to dysregulation of ARHGAP36 , establish BDCS as a genomic disorder, and provide a potential therapeutic target for both inherited and sporadic BCCs.
antibodies
2025-10-09 | Acquired skin-pulmonary syndromes
Lesions of the skin and its appendages against the background of respiratory diseases are fairly common in routine clinical practice. Abnormal changes in the skin and its appendages can manifest as signs of a multisystem genetic disease, chronic lung diseases, or acquired syndromes with combined lesions of the skin, its appendages, and respiratory organs. Abnormal changes in the skin and its appendages against the background of respiratory diseases can be linked to a severe systemic condition (Bazex syndrome, granulomatosis with polyangiitis, Löfgren’s syndrome), but at the same time can be the only clinical sign of the disease (yellow nail syndrome). The aim of this work is to describe the clinical features of acquired skin-pulmonary syndromes, including Bazex syndrome, granulomatosis with polyangiitis, Löfgren’s syndrome, yellow nail syndrome, eosinophilic granulomatosis with polyangiitis, and Sjogren syndrome, with an emphasis on the known clinical manifestations in the skin, its appendages and respiratory organs. Conclusion. Identification of distinct symptoms and syndromic nature of a specific disease is a very complex task, requiring deep academic and clinical knowledge of the physician. The variety of clinical lesions of the skin, its appendages, and respiratory organs associated with skin-pulmonary syndromes may create challenges during a routine appointment. In this article, the authors attempted to describe the main acquired skin-pulmonary syndromes encountered in the routine practice of both a pulmonologist and a dermatologist, with an emphasis on the clinical manifestations of these syndromes in the skin, its appendages, and respiratory organs.
2019-07-09 | Synchronous Occurrence of Bazex Syndrome and Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Patient with Lung Cancer
A 69-year-old man developed bilateral polyarthritis, edematous extremities, and skin desquamation on the fingers and ears. He did not meet the criteria for any connective tissue disease, including rheumatoid arthritis. An examination revealed advanced lung cancer. His systemic manifestations were attributed to paraneoplastic Bazex syndrome and remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Treatment with pembrolizumab (an anti-programmed death-1 antibody) for lung cancer relieved his symptoms and shrank the lung tumor. Bazex and RS3PE syndromes are rare paraneoplastic diseases. We herein report this unique case of synchronous development of these two paraneoplastic syndromes in the presence of advanced lung cancer.
proteins
2026-01-20 | Acrokeratosis paraneoplastica (Bazex syndrome): clinical features, pathogenesis and management — a systematic review
Background. Bazex syndrome (acrokeratosis paraneoplastica) is a rare, obligate paraneoplastic dermatosis, most strongly associated with squamous cell carcinomas of the upper aerodigestive tract and respiratory system. In many cases, cutaneous manifestations precede the diagnosis of malignancy, conferring significant predictive and diagnostic value. The aim of this study was to provide a critical and integrative analysis of current data regarding the epidemiology, pathogenesis, clinical presentation, differential diagnosis, and therapeutic strategies of Bazex syndrome. Methods. A systematic review of the literature on Bazex syndrome was conducted in PubMed, Scopus, and Google Scholar, including review articles, original studies, case series, and case reports available in full text, with data extracted on clinical features, associated malignancies, diagnostic findings, histopathology, and treatment outcomes. Results. Bazex syndrome is characterized by symmetric erythematous, scaling, and hyperkeratotic skin lesions with an acral distribution, frequently accompanied by early and pronounced nail apparatus involvement. The pathogenesis is multifactorial, involving immune dysregulation, humoral mechanisms, and potential metabolic factors induced by the neoplastic process. Cutaneous lesions are typically resistant to dermatological treatment and regress primarily following successful treatment of the underlying malignancy. Conclusions. Bazex syndrome represents an important marker of malignancy, and its early recognition may facilitate earlier oncological diagnosis and improve prognosis. The nonspecific histopathological features and limited efficacy of symptomatic treatment underscore the need for an interdisciplinary diagnostic and therapeutic approach, as well as further research into the pathomechanisms of this dermatosis.
small molecules
2024-12-06 | Non-Small Cell Lung Cancer-A Case of the Bazex
Bazex syndrome is a rare form of paraneoplastic syndrome affecting the skin, rarely identified as an underlying cancer cause at presentation. The current case highlights, as well as a literature review of cases, a 76-year-old man with a smoking history and no skin medical history who had a delayed diagnosis of Non-Small Cell Lung Cancer (NSCLC). Initial pre-diagnosis skin plaque treatment failed, with progressing shortness of breath leading to a finding of lung cancer. Plaques were classical in this case and did respond to the chemotherapy as previously reported, but not previously noted with the combination used in this case. Although the skin plaques responded to treatment, the patient did eventually die of advancing lung cancer.
2024-05-28 | Non-Small Cell Lung Cancer – A Case of the Bazex
Bazex syndrome is a rare form of paraneoplastic syndrome, rarely identified as an underlying cancer at presentation. Predominately found in upper aero-digestive cancers and squamous cell lung carcinomas. Plaques on acral surfaces are common, described as psoriatic, often resolve after underlying anti-cancer therapy. This case presents a 76-year-old male with squamous cell non-small cell lung cancer suffering psoriatic lesions which respond chemotherapy and immunotherapy.
2023-06-01 | DP12 Painful oral keratosis and skin lesions: a paraneoplastic diagnostic conundrum
Abstract A 70-year-old man was referred to oral medicine with extensive, painful oral hyperkeratosis affecting the tongue, buccal mucosa and palate. Medical history included a previous diagnosis of prostate cancer. Histology from multiple oral biopsy specimens showed only hyperparakeratosis and acanthosis, with no fungi or dysplasia. Owing to the absence of oral inflammation, the pain was treated as neuropathic. The patient then developed skin lesions and dermatology review was requested. Skin examination revealed marked hyperkeratotic, verrucous plaques affecting the extensor surfaces of the limbs and dorsal hands, as well as the plantar feet bilaterally. The nails were unaffected. There was violaceous discolouration of the pinnae. Given the history of prostate cancer, a paraneoplastic process was suspected. Two incisional biopsies were taken, which showed epidermal acanthosis with necrotic and dyskeratotic keratinocytes throughout the epidermis. There was a dense eosinophilic inflammatory infiltrate. Direct and indirect immunofluorescence was negative. The appearances were suggestive of a paraneoplastic phenomenon, including acrokeratosis paraneoplastica. Haematological investigations identified an IgG monoclonal paraproteinaemia with raised kappa:lambda ratio. Following further investigation, including bone marrow biopsy and positron emission tomography computed tomography, a diagnosis of monoclonal gammopathy of undetermined significance was made by haematology. A repeat bone marrow biopsy 7 months later confirmed evolution to myeloma. As CRAB criteria (hypercalcaemia, renal insufficiency, anaemia and bone lesions) were absent, a period of observation followed. A trial of oral steroids improved the cutaneous eruption, but he developed significant side-effects. Oral mycophenolate, methotrexate and acitretin were used as steroid-sparing agents, with a poor clinical response. The skin lesions progressed to a widespread psoriasiform eruption on the trunk and lower limbs with the formation of bullae. Further biopsies showed an eosinophil-rich infiltrate with negative immunofluorescence, raising the possibility of an eosinophilic dermatosis of haematological malignancy. After 2 years, given the worsening skin symptoms, it was decided to commence bortezomib, cyclophosphamide and dexamethasone (VCD) chemotherapy. Despite four cycles of VCD treatment, the skin lesions worsened and as the paraprotein levels did not reduce, treatment was stopped. Subsequently, further elevations in serum free light chains prompted treatment with lenalidomide. This resulted in a marked improvement in the skin and reduced pain from the oral lesions, as well as a reduction in serum free light chains. Acrokeratosis paraneoplastica (Bazex syndrome) is characterized by digital hyperkeratosis and paronychia, which may progress to involve the limbs and trunk. Eosinophilic dermatosis of haematological malignancy is characterized by a pruritic, papular skin eruption with a vesiculobullous component. This case presents a diagnostic conundrum, with evolving features of two different paraneoplastic conditions.
2022-12-01 | Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
Abstract Background Bazex–Dupré–Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11·4-Mb interval on chromosome Xq25-q27.1. However, the genetic mechanism of BDCS remains an open question. Objectives To investigate the genetic aetiology and molecular mechanisms underlying BDCS. Methods We ascertained multiple individuals from eight unrelated families affected with BDCS (F1–F8). Whole-exome (F1 and F2) and genome sequencing (F3) were performed to identify putative disease-causing variants within the linkage region. Array comparative genomic hybridization and quantitative polymerase chain reaction (PCR) were used to explore copy number variations, followed by long-range gap PCR and Sanger sequencing to amplify the duplication junctions and to define the head–tail junctions. Hi-C was performed on dermal fibroblasts from two affected individuals with BDCS and one control. Public datasets and tools were used to identify regulatory elements and transcription factor binding sites within the minimal duplicated region. Immunofluorescence was performed in hair follicles, BCCs and trichoepitheliomas from patients with BDCS and sporadic BCCs. The ACTRT1 variant c.547dup (p.Met183Asnfs*17), previously proposed to cause BDCS, was evaluated with t allele frequency calculator. Results In eight families with BDCS, we identified overlapping 18–135-kb duplications (six inherited and two de novo) at Xq26.1, flanked by ARHGAP36 and IGSF1. Hi-C showed that the duplications did not affect the topologically associated domain, but may alter the interactions between flanking genes and putative enhancers located in the minimal duplicated region. We detected ARHGAP36 expression near the control hair follicular stem cell compartment, and found increased ARHGAP36 levels in hair follicles in telogen, in BCCs and in trichoepitheliomas from patients with BDCS. ARHGAP36 was also detected in sporadic BCCs from individuals without BDCS. Our modelling showed the predicted maximum tolerated minor allele frequency of ACTRT1 variants in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss of function of ACTRT1 variants to be an unlikely cause for BDCS. Conclusions Noncoding Xq26.1 duplications cause BDCS. The BDCS duplications most likely lead to dysregulation of ARHGAP36. ARHGAP36 is a potential therapeutic target for both inherited and sporadic BCCs. What is already known about this topic? Bazex–Dupré–Christol syndrome (BDCS) is a rare X-linked basal cell carcinoma susceptibility syndrome linked to an 11·4-Mb interval on chromosome Xq25-q27.1.Loss-of-function variants in ACTRT1 and its regulatory elements were suggested to cause BDCS. What does this study add? BDCS is caused by small tandem noncoding intergenic duplications at chromosome Xq26.1.The Xq26.1 BDCS duplications likely dysregulate ARHGAP36, the flanking centromeric gene.ACTRT1 loss-of-function variants are unlikely to cause BDCS. What is the translational message? This study provides the basis for accurate genetic testing for BDCS, which will aid precise diagnosis and appropriate surveillance and clinical management.ARHGAP36 may be a novel therapeutic target for all forms of sporadic basal cell carcinomas.
2022-02-17 | Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
Abstract Background Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11.4 Mb interval on chromosome Xq25-27.1. However, the genetic mechanism of BDCS remains an open question. Methods To investigate the genetic etiology of BDCS, we ascertained eight families with individuals affected with BDCS (F1-F8). Whole exome (F1 and F2) and genome sequencing (F3) were performed to identify putative disease-causing variants within the linkage region. Array-comparative genomic hybridization and quantitative PCR were used to explore copy number variations (CNV) in BDCS families, followed by long-range gap-PCR and Sanger sequencing to amplify duplication junction and define the precise head-tail junctions, respectively. Immunofluorescence was performed in hair follicles, BCCs and trichoepitheliomas from BDCS patients and sporadic BCCs to detect the expression of corresponding genes. The ACTRT1 variant (p.Met183Asnfs*17), previously proposed to cause BDCS, was evaluated with allele frequency calculator. Results In eight BDCS families, we identified overlapping 18-135kb duplications (six inherited and two de novo ) at Xq26.1, flanked by ARHGAP36 and IGSF1 . We detected ARHGAP36 expression near the control hair follicular stem cells compartment, and found increased ARHGAP36 levels in hair follicles in telogen, BCCs and trichoepitheliomas from patients with BDCS. ARHGAP36 was also detected in sporadic BCCs from individuals without BDCS. Our modelling showed the predicted ACTRT1 variants maximum tolerated minor allele frequency in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss-of-function of ACTRT1 is unlikely to cause BDCS. Conclusions Our data support the pathogenicity of intergenic duplications at Xq26.1, most likely leading to dysregulation of ARHGAP36 , establish BDCS as a genomic disorder, and provide a potential therapeutic target for both inherited and sporadic BCCs.
antibodies
2025-10-09 | Acquired skin-pulmonary syndromes
Lesions of the skin and its appendages against the background of respiratory diseases are fairly common in routine clinical practice. Abnormal changes in the skin and its appendages can manifest as signs of a multisystem genetic disease, chronic lung diseases, or acquired syndromes with combined lesions of the skin, its appendages, and respiratory organs. Abnormal changes in the skin and its appendages against the background of respiratory diseases can be linked to a severe systemic condition (Bazex syndrome, granulomatosis with polyangiitis, Löfgren’s syndrome), but at the same time can be the only clinical sign of the disease (yellow nail syndrome). The aim of this work is to describe the clinical features of acquired skin-pulmonary syndromes, including Bazex syndrome, granulomatosis with polyangiitis, Löfgren’s syndrome, yellow nail syndrome, eosinophilic granulomatosis with polyangiitis, and Sjogren syndrome, with an emphasis on the known clinical manifestations in the skin, its appendages and respiratory organs. Conclusion. Identification of distinct symptoms and syndromic nature of a specific disease is a very complex task, requiring deep academic and clinical knowledge of the physician. The variety of clinical lesions of the skin, its appendages, and respiratory organs associated with skin-pulmonary syndromes may create challenges during a routine appointment. In this article, the authors attempted to describe the main acquired skin-pulmonary syndromes encountered in the routine practice of both a pulmonologist and a dermatologist, with an emphasis on the clinical manifestations of these syndromes in the skin, its appendages, and respiratory organs.
2019-07-09 | Synchronous Occurrence of Bazex Syndrome and Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Patient with Lung Cancer
A 69-year-old man developed bilateral polyarthritis, edematous extremities, and skin desquamation on the fingers and ears. He did not meet the criteria for any connective tissue disease, including rheumatoid arthritis. An examination revealed advanced lung cancer. His systemic manifestations were attributed to paraneoplastic Bazex syndrome and remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Treatment with pembrolizumab (an anti-programmed death-1 antibody) for lung cancer relieved his symptoms and shrank the lung tumor. Bazex and RS3PE syndromes are rare paraneoplastic diseases. We herein report this unique case of synchronous development of these two paraneoplastic syndromes in the presence of advanced lung cancer.
proteins
2026-01-20 | Acrokeratosis paraneoplastica (Bazex syndrome): clinical features, pathogenesis and management — a systematic review
Background. Bazex syndrome (acrokeratosis paraneoplastica) is a rare, obligate paraneoplastic dermatosis, most strongly associated with squamous cell carcinomas of the upper aerodigestive tract and respiratory system. In many cases, cutaneous manifestations precede the diagnosis of malignancy, conferring significant predictive and diagnostic value. The aim of this study was to provide a critical and integrative analysis of current data regarding the epidemiology, pathogenesis, clinical presentation, differential diagnosis, and therapeutic strategies of Bazex syndrome. Methods. A systematic review of the literature on Bazex syndrome was conducted in PubMed, Scopus, and Google Scholar, including review articles, original studies, case series, and case reports available in full text, with data extracted on clinical features, associated malignancies, diagnostic findings, histopathology, and treatment outcomes. Results. Bazex syndrome is characterized by symmetric erythematous, scaling, and hyperkeratotic skin lesions with an acral distribution, frequently accompanied by early and pronounced nail apparatus involvement. The pathogenesis is multifactorial, involving immune dysregulation, humoral mechanisms, and potential metabolic factors induced by the neoplastic process. Cutaneous lesions are typically resistant to dermatological treatment and regress primarily following successful treatment of the underlying malignancy. Conclusions. Bazex syndrome represents an important marker of malignancy, and its early recognition may facilitate earlier oncological diagnosis and improve prognosis. The nonspecific histopathological features and limited efficacy of symptomatic treatment underscore the need for an interdisciplinary diagnostic and therapeutic approach, as well as further research into the pathomechanisms of this dermatosis.
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