RESUMEN
ABSTRACT: Perforating dermatosis is a group of skin conditions in which there is transdermal elimination of collagen, elastic fibers, or other dermal connective tissue. Perforating dermatosis can be genetic or acquired, known as acquired perforating dermatosis (APD). When collagen is the primary extruded material in acquired cases, the disease is designated as acquired reactive perforating collagenosis (RPC). We report a case of acquired RPC occurring in a new tattoo. One week after having a new tattoo placed on the left forearm, a 38-year-old gentleman presented to the emergency room with pruritic, crusted plaques and erosions in the regions of red and green inks of the tattoo. Histopathologic examination of the biopsy revealed an ulceration with transepidermal elimination of collagen bundles accompanied by basophilic debris, scattered dermal tattoo pigment, and a superficial to deep perivascular lymphohistiocytic infiltrate with scattered neutrophils and eosinophils. There have been 2 reported cases of tattoo-associated RPC, both in association with red tattoo ink. This present case is the first reported APD to occur in association with nonred tattoo ink. This case reaffirms the conclusions of others in recognizing APD as a potential tattoo-associated complication.
Asunto(s)
Enfermedades del Colágeno , Enfermedades de la Piel , Tatuaje , Adulto , Colágeno , Enfermedades del Colágeno/etiología , Humanos , Tinta , Masculino , Enfermedades de la Piel/patología , Tatuaje/efectos adversosRESUMEN
The importance of the early diagnosis and treatment of diabetes and its cutaneous complications has become increasingly recognized. When diabetic non-injured skin was stained with Masson's trichrome, its dermal collagen was found to be disordered, its density was variable, and it was dispersed or arranged in vague fascicles. The collagen type I sequencing results of RNA sequencing-based transcriptome analysis of three primary human skin cell types-dermal fibroblasts, dermal microvascular endothelial cells, and epidermal keratinocytes-under high glucose were analyzed. The results showed that both COL1A1 and COL1A2 mRNA expressions were reduced in human dermal fibroblasts (HDFs). The ratio of matrix metalloproteinase (MMP)-2/tissue inhibitors of metalloproteinase (TIMP)-2 and MMP-9/TIMP-1 in HDFs increased when treated with high glucose. By inhibiting MMP-2 and MMP-9 with SB-3CT, collagen deposition disorder of the skin in streptozotocin-induced diabetes mice was alleviated. The imbalance of MMP2/TIMP2 and MMP9/TIMP1 contributes to the non-injured skin disorder of collagen deposition in diabetes, suggesting a possibility for early treatment of diabetes skin complications.
Asunto(s)
Enfermedades del Colágeno/etiología , Colagenasas/genética , Diabetes Mellitus Experimental/complicaciones , Piel/patología , Inhibidores Tisulares de Metaloproteinasas/genética , Animales , Células Cultivadas , Colágeno/efectos de los fármacos , Colágeno/genética , Colágeno/metabolismo , Enfermedades del Colágeno/genética , Enfermedades del Colágeno/metabolismo , Enfermedades del Colágeno/patología , Colagenasas/metabolismo , Diabetes Mellitus Experimental/genética , Diabetes Mellitus Experimental/metabolismo , Diabetes Mellitus Experimental/patología , Fibroblastos/efectos de los fármacos , Fibroblastos/metabolismo , Fibroblastos/patología , Expresión Génica/efectos de los fármacos , Glucosa/farmacología , Humanos , Masculino , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 2 de la Matriz/metabolismo , Metaloproteinasa 9 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/metabolismo , Ratones , Ratones Endogámicos C57BL , Piel/metabolismo , Estreptozocina , Inhibidor Tisular de Metaloproteinasa-1/genética , Inhibidor Tisular de Metaloproteinasa-1/metabolismo , Inhibidor Tisular de Metaloproteinasa-2/genética , Inhibidor Tisular de Metaloproteinasa-2/metabolismo , Inhibidores Tisulares de Metaloproteinasas/metabolismoRESUMEN
INTRODUCTION: Acquired reactive perforating collagenosis (ARPC) is a rare skin disorder, which is associated with various internal diseases and even malignant neoplasms. A comprehensive knowledge of the concomitant diseases in ARPC patients is helpful to decrease the misdiagnosis. Although the treatment of ARPC is challenging, systemic assessment of existing regimens is not available. PATIENT CONCERNS: A 50-year-old woman was admitted to the hospital due to cutaneous pruritus and papules all over the body. DIAGNOSIS: Physical examination showed various sized papules on the lower limbs, buttocks, back, chest, and upper arms with keratotic plugs in the center. Histopathology showed typical collagenous fiber perforation. The diagnosis of ARPC was made according to histopathology, onset age and typical skin lesions. Type 2 diabetes mellitus (T2DM), chronic renal failure (CRF), and hypothyroidism simultaneously presented in this patient. INTERVENTIONS: This patient was initially treated with topical corticosteroids and oral antihistamines for the skin lesion and pruritus. Medications for glucose control and recovery of renal and thyroid functions were also applied. On the second admission, the combined therapy of topical retinoic acid, Chinese medicinal herb-Qingpeng ointment, and Zinc oxide ointment was added. OUTCOMES: Papules and pruritus were improved significantly after the second hospitalization. CONCLUSION: We present a case of ARPC associated with T2DM, CRF, and hypothyroidism, which has rarely been described. There is no standardized treatment for ARPC. Co-administration of two or more agents for dermatologic interventions and treatment for associated diseases may help to improve skin symptoms.
Asunto(s)
Enfermedades del Colágeno/diagnóstico , Enfermedades de la Piel/diagnóstico , Enfermedades del Colágeno/tratamiento farmacológico , Enfermedades del Colágeno/etiología , Enfermedades del Colágeno/patología , Fármacos Dermatológicos/uso terapéutico , Diabetes Mellitus Tipo 2/complicaciones , Femenino , Humanos , Fallo Renal Crónico/complicaciones , Persona de Mediana Edad , Piel/patología , Enfermedades de la Piel/tratamiento farmacológico , Enfermedades de la Piel/etiología , Enfermedades de la Piel/patologíaAsunto(s)
Enfermedades del Colágeno/etiología , Fallo Renal Crónico/complicaciones , Enfermedades de la Piel/etiología , Anciano , Antígenos de Neoplasias/metabolismo , Cetirizina/uso terapéutico , Colágeno/metabolismo , Enfermedades del Colágeno/tratamiento farmacológico , Enfermedades del Colágeno/fisiopatología , Diabetes Mellitus Tipo 2/complicaciones , Fluocinolona Acetonida/uso terapéutico , Humanos , Hipertensión/complicaciones , Hipotiroidismo/complicaciones , Fallo Renal Crónico/terapia , Masculino , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Diálisis Peritoneal , Enfermedades de la Piel/tratamiento farmacológico , Enfermedades de la Piel/fisiopatologíaRESUMEN
Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and collagens are a key component required for BM function. While collagen IV is the major BM collagen, collagens VI, VII, XV, XVII and XVIII are also present. Mutations in these collagens cause rare multi-systemic diseases but these collagens have also been associated with major common diseases including stroke. Developing treatments for these conditions will require a collective effort to increase our fundamental understanding of the biology of these collagens and the mechanisms by which mutations therein cause disease. Novel insights into pathomolecular disease mechanisms and cellular responses to these mutations has been exploited to develop proof-of-concept treatment strategies in animal models. Combined, these studies have also highlighted the complexity of the disease mechanisms and the need to obtain a more complete understanding of these mechanisms. The identification of pathomolecular mechanisms of collagen mutations shared between different disorders represent an attractive prospect for treatments that may be effective across phenotypically distinct disorders.
Asunto(s)
Membrana Basal/metabolismo , Enfermedades del Colágeno/etiología , Colágenos no Fibrilares/metabolismo , Animales , Membrana Basal/química , Enfermedades del Colágeno/tratamiento farmacológico , Enfermedades del Colágeno/terapia , Terapia Genética , Humanos , Mutación , Colágenos no Fibrilares/genéticaRESUMEN
The procollagen C-propeptides of the fibrillar collagens play key roles in the intracellular assembly of procollagen molecules from their constituent polypeptides chains, and in the extracellular assembly of collagen molecules into fibrils. Here we review recent advances in understanding the molecular mechanisms controlling C-propeptide trimerization which have revealed the importance of inter-chain disulphide bonding and a small number of charged amino acids in the stability and specificity of different types of chain association. We also show how the crystal structure of the complex between the C-propeptide trimer of procollagen III and the active fragment of procollagen C-proteinase enhancer-1 leads to a detailed model for accelerating release of the C-propeptides from procollagen by bone morphogenetic protein-1 and related proteinases. We then discuss the effects of disease-related missense mutations in the C-propeptides in relation to the sites of these mutations in the three-dimensional structure. While in general there is a good correlation between disease severity and structure-based predictions, there are notable exceptions, suggesting new interactions involving the C-propeptides yet to be characterized. Mutations affecting proteolytic release of the C-propeptides from procollagen are discussed in detail. Finally, the roles of recently discovered interaction partners for the C-propeptides are considered during fibril assembly and cross-linking.
Asunto(s)
Colágenos Fibrilares/metabolismo , Fragmentos de Péptidos/metabolismo , Procolágeno/metabolismo , Enfermedades del Colágeno/etiología , Disulfuros/química , Colágenos Fibrilares/química , Colágenos Fibrilares/genética , Humanos , Mutación , Fragmentos de Péptidos/química , Fragmentos de Péptidos/genética , Procolágeno/química , Procolágeno/genética , Multimerización de Proteína/genética , Estructura Cuaternaria de ProteínaAsunto(s)
Enfermedades del Colágeno/etiología , Neoplasias del Mediastino/complicaciones , Síndromes Paraneoplásicos/etiología , Sarcoma Sinovial/complicaciones , Enfermedades de la Piel/etiología , Resultado Fatal , Humanos , Masculino , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/patología , Persona de Mediana Edad , Sarcoma Sinovial/diagnóstico por imagen , Sarcoma Sinovial/patologíaAsunto(s)
Enfermedades del Colágeno/patología , Complicaciones de la Diabetes/patología , Diabetes Mellitus/diagnóstico , Enfermedades de la Piel/patología , Administración Tópica , Anciano de 80 o más Años , Enfermedades del Colágeno/diagnóstico , Enfermedades del Colágeno/etiología , Enfermedades del Colágeno/terapia , Diabetes Mellitus/epidemiología , Diabetes Mellitus/patología , Diagnóstico Diferencial , Femenino , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Antagonistas de los Receptores Histamínicos/administración & dosificación , Antagonistas de los Receptores Histamínicos/uso terapéutico , Humanos , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/etiología , Enfermedades de la Piel/terapia , Resultado del Tratamiento , Terapia Ultravioleta/métodosRESUMEN
This is a case report of a 68-year-old hypertensive, diabetic woman who was on regular thrice weekly hemodialysis (HD). She presented with gradually worsening left lower limb pain and swelling. Clinical examination revealed significant edema over the left calf and ankle joint with significant calf tenderness. Extensive workup including magnetic resonance imaging of the lower limb and venous Doppler failed to show any significant abnormality. In view of developing papular lesions over the area, skin biopsy was performed, which finally confirmed reactive perforating collagenosis. This diagnosis ensured reassurance to the patient with halting of further extensive and probably expensive testing. Simple conservative management and symptomatic relief improved the pain over the next few days. This case report highlights the importance of keeping a wide differential for calf tenderness in diabetic HD patients and projects reactive perforating collagenosis as one of the important but frequently missed entities in such a scenario.
Asunto(s)
Enfermedades del Colágeno/etiología , Nefropatías Diabéticas/terapia , Diálisis Renal/efectos adversos , Enfermedades de la Piel/etiología , Anciano , Biopsia , Enfermedades del Colágeno/diagnóstico , Enfermedades del Colágeno/terapia , Nefropatías Diabéticas/complicaciones , Nefropatías Diabéticas/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Valor Predictivo de las Pruebas , Factores de Riesgo , Piel/patología , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/terapia , Resultado del TratamientoAsunto(s)
Adenocarcinoma/complicaciones , Enfermedades del Colágeno/etiología , Enfermedades del Colágeno/radioterapia , Neoplasias de la Próstata/complicaciones , Enfermedades Cutáneas Genéticas/etiología , Enfermedades Cutáneas Genéticas/radioterapia , Adenocarcinoma/tratamiento farmacológico , Administración Tópica , Anciano , Antineoplásicos Hormonales/uso terapéutico , Carcinoma , Enfermedades del Colágeno/tratamiento farmacológico , Productos Finales de Glicación Avanzada/sangre , Humanos , Japón , Leuprolida/uso terapéutico , Masculino , Metástasis de la Neoplasia , Neoplasias de la Próstata/tratamiento farmacológico , Enfermedades Cutáneas Genéticas/tratamiento farmacológico , Esteroides/administración & dosificación , Esteroides/uso terapéutico , Resultado del Tratamiento , Terapia UltravioletaRESUMEN
Bullous pemphigoid (BP) is a common autoimmune blistering disorder with unknown etiology. Recently, increasing numbers of BP cases which developed under the medication with dipeptidyl peptidase-4 inhibitors (DPP4i), widely used antihyperglycemic drugs, have been reported in published works. Here, we report a case of DPP4i (teneligliptin)-associated BP that developed in a 70-year-old Japanese man. Interestingly, the patient had acquired reactive perforating collagenosis (ARPC), which is also known to be associated with the onset of BP. In the present case, clinical, histopathological and immunological findings suggested that DPP4i rather than ARPC was associated with the onset of BP.
Asunto(s)
Enfermedades del Colágeno/etiología , Diabetes Mellitus/tratamiento farmacológico , Inhibidores de la Dipeptidil-Peptidasa IV/efectos adversos , Penfigoide Ampolloso/complicaciones , Anciano , Autoantígenos/inmunología , Biopsia , Enfermedades del Colágeno/diagnóstico , Enfermedades del Colágeno/patología , Sustitución de Medicamentos/métodos , Ensayo de Inmunoadsorción Enzimática , Inhibidores de Glicósido Hidrolasas/uso terapéutico , Humanos , Inositol/análogos & derivados , Inositol/uso terapéutico , Masculino , Colágenos no Fibrilares/inmunología , Penfigoide Ampolloso/inducido químicamente , Penfigoide Ampolloso/inmunología , Penfigoide Ampolloso/patología , Pirazoles/efectos adversos , Piel/inmunología , Piel/patología , Tiazolidinas/efectos adversos , Colágeno Tipo XVIIAsunto(s)
Enfermedades del Colágeno/diagnóstico , Enfermedad de Hodgkin/complicaciones , Enfermedades de la Piel/diagnóstico , Trastornos de Adaptación/etiología , Adulto , Antineoplásicos/administración & dosificación , Antineoplásicos/uso terapéutico , Enfermedades del Colágeno/etiología , Enfermedades del Colágeno/patología , Femenino , Enfermedad de Hodgkin/tratamiento farmacológico , Enfermedad de Hodgkin/patología , Humanos , Estadificación de Neoplasias , Prurito/diagnóstico , Prurito/etiología , Enfermedades de la Piel/patología , Resultado del TratamientoAsunto(s)
Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Enfermedades del Colágeno/etiología , Colágenos Fibrilares/metabolismo , Lupus Eritematoso Sistémico/complicaciones , Enfermedades de la Piel/etiología , Adulto , Antirreumáticos/administración & dosificación , Dorso , Enfermedades del Colágeno/tratamiento farmacológico , Enfermedades del Colágeno/patología , Epidermis/metabolismo , Epidermis/patología , Etanercept/administración & dosificación , Etanercept/uso terapéutico , Cara , Femenino , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Humanos , Metotrexato/administración & dosificación , Metotrexato/uso terapéutico , Prednisolona/administración & dosificación , Prednisolona/uso terapéutico , Enfermedades de la Piel/tratamiento farmacológico , Enfermedades de la Piel/patologíaRESUMEN
Dermatomyositis is a systemic, autoimmune diseasewith a variety of clinical features that often includemyositis and characteristic cutaneous findings. Asubset of patients with dermatomyositis developcutaneous ulcers, often in the setting of vasculitis orvasculopathy. We present a case of dermatomyositiswith cutaneous ulcers that show perforatingcollagenosis on histopathologic examination.Acquired reactive perforating collagenosistypically occurs in the setting of diabetes mellitus,chronic renal failure, and other pruritic conditions,and this case represents a rare association withdermatomyositis, which may ultimately be helpful inelucidating the pathophysiology of this perforatingdisorder.
Asunto(s)
Enfermedades del Colágeno/diagnóstico , Dermatomiositis/diagnóstico , Dermatosis Facial/diagnóstico , Dermatosis de la Mano/diagnóstico , Dermatosis del Cuero Cabelludo/diagnóstico , Úlcera Cutánea/diagnóstico , Enfermedades del Colágeno/etiología , Enfermedades del Colágeno/patología , Dermatomiositis/complicaciones , Dermatomiositis/patología , Extremidades , Dermatosis Facial/etiología , Dermatosis Facial/patología , Femenino , Dermatosis de la Mano/etiología , Dermatosis de la Mano/patología , Humanos , Persona de Mediana Edad , Dermatosis del Cuero Cabelludo/etiología , Dermatosis del Cuero Cabelludo/patología , Úlcera Cutánea/etiología , Úlcera Cutánea/patología , TorsoRESUMEN
Acquired perforating dermatosis (APD) represents a heterogenous group of skin disorders characterized histopathologically by transepithelial elimination (TEE) of dermal structures. APD is manifested clinically as multi-localized, papulo-nodular skin lesions accompanied by a refractory pruritus. APD typically coexists with long-term disorders, most often diabetic kidney disease (DKD). The paper presents a case of a 56-year-old male patient with chronic kidney disease (CKD) and concomitant acquired reactive perforating collagenosis (ARPC), which is a subtype of APD. Etiological theories of ARPC as well as current diagnostic and treatment principles in dermatosis were described. On the basis of the presented case report and the literature review attention was paid to diagnostic difficulties associated with APD. The assumption was made that APD can be an underdiagnosed disease and thus it is not treated correctly. According to the authors' opinion, this is an important circumstance to popularize the knowledge about APD.
Asunto(s)
Enfermedades del Colágeno/etiología , Insuficiencia Renal Crónica/complicaciones , Enfermedades de la Piel/etiología , Enfermedades del Colágeno/diagnóstico , Enfermedades del Colágeno/patología , Humanos , Masculino , Persona de Mediana Edad , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/patologíaRESUMEN
BACKGROUND: The aims of this study were to determine whether arterial hypertension could affect the venous system of brain and to find out the consequent pathologic changes of cerebral veins. METHODS: Thirty male Sprague-Dawley rats were divided into 2 groups: a sham-clipped group and a stroke-prone renovascular hypertensive rat group. A 2-kidney 2-clip rat model was used to induce renovascular hypertension in the hypertensive group. Systolic blood pressure was measured by tail cuff once each week. Susceptibility-weighted imaging (SWI) was performed at 12, 16, and 20 weeks after surgery. All the rats were sacrificed after the SWI examination at 20 weeks after surgery. The brains were extracted and embedded in paraffin for histologic examination. Masson trichrome staining was performed to identify venous collagenosis. RESULTS: The sham group demonstrated less prominence of cerebral veins compared with hypertensive groups (P < .01); the hypertensive group showed significant venous collagenosis in cerebral venous walls compared with the sham group (P < .01). CONCLUSIONS: The increased visibility of cerebral veins on SWI as a sign of venous hypertension and the thickened cerebral venous walls (venous collagenosis), which may play a role in cerebral ischemia and/or infarction, are both consequences of long-term hypertension in hypertensive rats.