Acquired reactive perforating collagenosis, a rare entity at uncommon site.

Acquired reactive perforating collagenosis (ARPC), rare disorder characterized by transepidermal elimination (TEE) of collagen fibers, is seen in adult diabetics. Genetic predisposition, familial aggregation, trauma, bites and scratching are implicated. Diabetics develop microvascular diseases leading to intense pruritus causing repeated micro trauma leading to necrosis of connective tissue of dermis, causing TEE. Isolated papules, plaques and nodules with central keratotic plugs, are mostly seen on extensor surfaces of limbs but trunk and face may be involved. Histopathology shows extrusion of abnormal collagen fibers through epidermis. Multiple treatment modalities show variable response. A 52 year old diabetic female had multiple, itchy, well defined, erythematous papules and plaques with central adherent crusting on lower back since 1 month. Histopathology showed cup shaped epidermal depression filled with plug of altered collagen, acanthotic epidermis with hyperkeratosis and parakeratosis. Underlying epidermis was thin with fine slits through which vertically oriented basophilic collagen fibers were extruded.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

The Imbalance of MMP-2/TIMP-2 and MMP-9/TIMP-1 Contributes to Collagen Deposition Disorder in Diabetic Non-Injured Skin.

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.

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.

Successful treatment of acquired reactive perforating collagenosis with itraconazole.

BACKGROUND: Acquired reactive perforating collagenosis (ARPC) is a rare form of transepithelial elimination in which altered collagen is extruded through the epidermis. CASE PRESENTATION: A 23-year-old male presented with cup-like ulcerated lesions on his limbs since 3 months. A series of serological and immunological tests showed no abnormalities. A diagnosis of ARPC was based on skin biopsy findings. The patient was cured using treatment with itraconazole for 8 weeks, in the absence of a fungal infection. CONCLUSIONS: The anti-inflammatory and anti-angiogenic effects of itraconazole can have good therapeutic benefits for ARPC.

Circumscribed storiform collagenoma, an unusual tumor.

Circumscribed storiform collagenoma is a rare benign tumor. It appears as an isolated skin lesion or as part of the clinical spectrum of Cowden syndrome. The pathogenesis is still controversial. Although its clinical expression is heterogeneous, it has a characteristic histological pattern. We describe a case of a solitary circumscribed storiform collagenoma not associated with Cowden syndrome.

Acquired reactive perforating collagenosis: A case report and review of the literature.

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.

Acquired reactive perforating collagenosis in association with prostate adenocarcinoma, chronic lymphocytic leukemia, and Graves disease

Abstract Acquired reactive perforating collagenosis is a rare skin disorder characterized by the presence of umbilicated pruritic papules and nodules. Transepidermal elimination of altered and perforating bundles of basophilic collagen from the epidermis is a characteristic histologic feature of acquired reactive perforating collagenosis. Along with its well-known association with systemic diseases such as diabetes mellitus, chronic renal failure, and dermatomyositis, there are reports of acquired reactive perforating collagenosis being associated with malignancies. Herein, we present a case of acquired reactive perforating collagenosis associated with chronic lymphocytic leukemia, prostate adenocarcinoma, and Graves's disease. Clinicians are required to be more vigilant in evaluating patients with acquired reactive perforating collagenosis due to its unique association with malignancies and other systemic diseases.

Acquired reactive perforating collagenosis in association with prostate adenocarcinoma, chronic lymphocytic leukemia, and Graves' disease.

Acquired reactive perforating collagenosis is a rare skin disorder characterized by the presence of umbilicated pruritic papules and nodules. Transepidermal elimination of altered and perforating bundles of basophilic collagen from the epidermis is a characteristic histologic feature of acquired reactive perforating collagenosis. Along with its well-known association with systemic diseases such as diabetes mellitus, chronic renal failure, and dermatomyositis, there are reports of acquired reactive perforating collagenosis being associated with malignancies. Herein, we present a case of acquired reactive perforating collagenosis associated with chronic lymphocytic leukemia, prostate adenocarcinoma, and Graves's disease. Clinicians are required to be more vigilant in evaluating patients with acquired reactive perforating collagenosis due to its unique association with malignancies and other systemic diseases.

Collagen type III nephropathy as a systemic disease? - A case report / Glomerulopatía por colágeno tipo III como enfermedad sistémica: caso clínico

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A case of verrucous perforating collagenoma in a toddler.

Verrucous perforating collagenoma is an extremely rare variant of acquired perforating dermatosis that has been seldom described in literature. We present the case of an 18-month-old boy who presented with an erythematous plaque with a central keratotic plug on the leg. Histopathology revealed transepidermal elimination of collagen, consistent with a diagnosis of verrucous perforating collagenoma.