Pseudoxanthoma-like papillary dermal elastolysis: A case report (Preprint)

2020 ◽  
Author(s):  
Jason Ho Seung Kim ◽  
Donald Jenkins Jr
Keyword(s):  
Skin Biopsy ◽  
Clinical Evidence ◽  
Differential Diagnoses ◽  
Papillary Dermis ◽  
Elastic Fibres ◽  
Normal Range ◽  
Collagen Fibres ◽  
Reticular Dermis ◽  
Histopathological Evidence ◽  
Dermal Elastolysis

UNSTRUCTURED An 88-year old female presented with axillary lesions on both sides that have developed over a year. She has been asymptomatic, but it was causing cosmetic concerns. There was no significant medical history and she was not taking any medications. Physical exam showed 1-6mm firm yellow dermal papules scattered over the axillae. Initial differential diagnoses included Fox-Fordyce disease and sebaceous cysts. First skin biopsy showed perivascular lymphocytes, extravasated red cells, and skin atrophy thought to be within the normal range expected of an elderly patient. There was some loss of elastic fibres within papillary dermis on Verhoeff-Van Gieson stain, but no clear diagnosis could be made. A second skin biopsy was performed which showed diminution of collagen fibres in reticular dermis and areas in papillary dermis lacking elastic fibres. Differential diagnoses were revised to include pseudoxanthoma-like papillary dermal elastolysis, but histopathology results were not definitive for the diagnosis. The diagnosis of pseudoxanthoma-like papillary dermal elastolysis was made based on the morphology and location of the lesions, epidemiological factors, and histopathological findings. No treatment was initiated, but the patient was content with knowing the diagnosis and agreed to vigilant monitoring of the lesions. This case discourages the sole reliance on histopathological evidence and reminds the importance of gathering clinical evidence to support the diagnosis of pseudoxanthoma-like papillary dermal elastolysis.

Pseudoxanthoma Elasticum–Like Papillary Dermal Elastolysis: A Single Case Report

2017 ◽  
Vol 21 (4) ◽  
pp. 345-347 ◽  
Author(s):  
Venus Valbuena ◽  
Dalal Assaad ◽  
Jensen Yeung
Keyword(s):  
Elderly Women ◽  
Single Case ◽  
Pseudoxanthoma Elasticum ◽  
Papillary Dermis ◽  
Caucasian Woman ◽  
Elastic Fibres ◽  
Systemic Involvement ◽  
Clinicopathologic Correlation ◽  
Single Case Report ◽  
Dermal Elastolysis

Background: Pseudoxanthoma elasticum–like papillary dermal elastolysis (PXE-PDE), a rare acquired elastolytic disorder, occurs in postmenopausal, elderly women and is characterized by soft, white-yellow papules that localize on the neck and supraclavicular regions and often coalesce into cobblestone plaques. It has no systemic involvement and is histologically distinct from the clinically similar inherited pseudoxanthoma elasticum. Case Summary: A 64-year-old Caucasian woman presented with a 2-year history of multiple, asymptomatic soft yellow 1- to 2-mm papules on her neck, which were increasing in number. On histopathology, haemotoxylin and eosin stain showed a normal-appearing papillary dermis; however, Verhoeff–van Gieson elastic stain showed absent elastic fibres in the papillary dermis. Papular elastorrhexis was suggested, but given its clinical picture, PXE-PDE was also considered. There was no resolution after 2 courses of intralesional triamcinolone acetonide (0.1 mL of 5 mg/mL). Conclusion: PXE-PDE, which is characterized by complete loss or significant reduction of elastic fibres in the papillary dermis, was consistent with our patient’s presentation and histologic findings. Papular elastorrhexis, a paediatric cutaneous disorder, was initially considered, but clinicopathologic correlation led to a diagnosis of PXE-PDE. Intralesional corticosteroids was tried as a treatment but was ineffective at improving the condition. This report documents the importance of histopathology and clinicopathologic correlation when differentiating the overlapping variants of fibroelastolytic disease.

scholarly journals Cutaneous mucinosis of infancy: a rare case of joint involvement

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Cristina Morreale ◽  
Dario Bleidl ◽  
Angela Rita Sementa ◽  
Clara Malattia
Keyword(s):  
Rare Case ◽  
Steroid Injection ◽  
Left Knee ◽  
Joint Involvement ◽  
Normal Range ◽  
Reticular Dermis ◽  
Case Presentation ◽  
Left Elbow ◽  
Inflammatory Drugs ◽  
One Year

Abstract Background Primary cutaneous mucinosis are a heterogeneous group of diseases characterized by the deposition of glycosaminoglycans in the dermis and the follicles. These diseases are rare in children therefore their diagnosis and management are still challenging. Joint involvement has been reported in patients with secondary cutaneous mucinosis and, rarely, in primary mucinosis. We describe a case of Cutaneous Mucinosis of Infancy with joint involvement. Case presentation An healthy 5-year-old boy showed acute arthritis of the left knee and left elbow confirmed by ultrasound. Laboratory tests were within normal range. Symptoms disappeared after a course of nonsteroid anti-inflammatory drugs. One year later, the knee swelling reappeared; juvenile idiopathic arthritis was diagnosed and intra-articular steroid injection was performed. Due to persistence of arthritis of the knee he was admitted to our hospital. On physical examination variable skin-colored lesions were observed, which had been in existence for over 2 years. We performed a skin biopsy that showed an interstitial mucine deposition in the reticular dermis. Cutaneous Mucinosis of Infancy was diagnosed. Discussion and conclusions Cutaneous Mucinosis of Infancy is a persistent dermatosis with benign prognosis and no treatment is generally required. Our case report is particularly interesting because it is the first in which joint involvement has been reported in CMI, a disorder that has so far been described as limited to skin involvement. Further studies will be necessary in order to clarify the pathogenesis of joint involvement in primary mucinosis.

FAMILIAL THYROXINE-BINDING GLOBULIN DEFICIENCY IN ASSOCIATION WITH NON-TOXIC GOITRE

1979 ◽  
Vol 91 (1) ◽  
pp. 70-76 ◽  
Author(s):  
Paul Bratusch-Marrain ◽  
Hannes Haydl ◽  
Werner Waldhäusl ◽  
Robert Dudczak ◽  
Wolfgang Graninger
Keyword(s):  
Clinical Evidence ◽  
Autosomal Dominant ◽  
Serum Concentrations ◽  
Dominant Inheritance ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
The Family ◽  
High Incidence ◽  
Total Thyroxine ◽  
Mode Of Transmission

ABSTRACT A kindred is presented in which 4 members in 3 generations showed absent or reduced serum concentrations of thyroxine-binding globulin (TBG). TBG was undetectable by radioimmunoassay in one male and decreased to varying extent in 3 female patients (4.0, 4.2 and 8.6 μg/ml; normal range 12.5–26.0 μg/ml). Total thyroxine serum concentrations in the affected subjects were well in the hypothyroid range without clinical evidence of hypothyroidism. The mode of transmission of the trait was consistent with X-chromosome linkage. A high incidence of non-toxic goitre was also present in most of the family members examined irrespective of TBG levels. The transmission of the goitre trait was compatible with autosomal dominant inheritance. Thus its association with transmission of TBG deficiency was interpreted as not causal but coincidental.

scholarly journals The Constriction Ring of Amniotic Band Syndrome Reveals Idiosyncrasies of Wound Repair in Infancy

2018 ◽  
Author(s):  
Surjya N. Bhattacharyya ◽  
Isaac M. Ilyashov ◽  
Alice Chu
Keyword(s):  
Wound Repair ◽  
Collagen I ◽  
Papillary Dermis ◽  
Skin Sample ◽  
Reticular Dermis ◽  
Amniotic Band ◽  
Constriction Ring ◽  
Amniotic Band Syndrome ◽  
Collagen Iii ◽  
Weave Pattern

ABSTRACTWe hypothesized that the constriction rings in Amniotic Band Syndrome (ABS) are the sequelae of localized mechanical injury. Typical scarring pattern was examined in skin tissue of ABS origin, containing an amniotic band constriction, for collagen and elastin distribution, and the ratio of collagen I to collagen III (CI:CIII). A skin sample from an extra finger was the control. In the ABS specimens, sub-epidermal structures were intact and present throughout, and collagen I exhibited a normal basket-weave pattern. At the site of constriction in both ABS samples, reticular dermis elastin fibers were fragmented and papillary dermis elastin fibers were absent. In the control tissue, the reticular dermis contained relatively thick, branching fibers of elastin, and papillary dermis elastin was present.The elastin fragmentation at the constriction ring indicates localized elastin remodeling in response to injury. The absence of elastin in the papillary dermis of the constriction likely indicates a localized disruption in elastin formation. The formation and deposition of collagen and the presence of sub-epidermal structures favor a non-scarring phenotype, while the organization of elastin favors that of localized scarring.Summary StatementA rare, fetal model of healing after constrictive injury of skin, in which elastin fragmentation at the constriction injury indicates remodeling explained by the differential expression of elastin during gestation.

scholarly journals Stereological and Morphometric Study of Type 3 Collagen Formation in the Cutaneous Wounds of Diabetic Mice Treated with Mesenchymal Stem Cells

2018 ◽  
Vol 46 (1) ◽  
pp. 11
Author(s):  
Huanna Waleska Soares Rodrigues ◽  
Napoleão Martins Argôlo Neto ◽  
Lucilene Dos Santos Silva ◽  
Maria Acelina Martins de Carvalho ◽  
Betânia Souza Monteiro
Keyword(s):  
Stem Cells ◽  
Mesenchymal Stem Cells ◽  
Diabetic Mice ◽  
Elastic Fibres ◽  
Collagen Fibres ◽  
Cutaneous Wounds ◽  
Histological Sections ◽  
Type 3 ◽  
Picrosirius Red

Introduction: Wound healing is a progressive, essential and complex physiological process that occurs as a restorative response after a tissue injury. It involves three phases: inflammation, proliferation and maturation. Exogenous, endogenous and pathological factors may interfere in the cicatricial process in humans and animals by altering the balance between the synthesis, degradation and remodelling of collagen and elastic fibres. Diabetes mellitus is a progressive metabolic disease that alters elastogenesis and collagenesis and induces delays in the healing process. Scientific evidence suggests that mesenchymal stem cells modulate the cicatricial response. Thus the objective of this work was to perform stereological and morphometric analysis to determine the formation of dermal fibres in cutaneous fragments of a murine model of diabetes mellitus.Materials, Methods & Results: Histological sections were obtained from the cutaneous wounds of diabetic mice. The cutaneous wounds were previously treated with autogenous mesenchymal stem cells, physiological solution or polyurethane membrane. The histological sections were subsequently processed and stained for type 1 and 3 collagen fibres and elastic fibres using Picrosirius Red and Weigert staining, respectively. Histological sections stained with Picrosirius Red presented three types of birefringence under polarised light microscopy that corresponded to red colours for type 1 collagen and green and yellow colours for type 3 collagen. Weigert staining presented three colours for histological structures under white light microscopy that corresponded to black colours for elastic fibres, variations in colour from pink to purple for other structures and dermal attachments. The elastic fibres, represented by a black colour, presented in a heterogeneous form and were either identified as thin, punctiform or rectangular fibres or as elastic agglomerates. A greater volume of elastic fibres was observed in the superficial dermis than in the deep dermis, arranged irregularly. These fibres were organised longitudinally to the dermo-epidermal junction and surrounding the blood vessels and hair follicles. The images obtained were evaluated using the Cavalieri principle of stereology to obtain quantitative data in three-dimensions (3D), represented by the volume of the dermal fibres, and by the colour segmentation method. The K-means clustering plug-in in Image J® was used to quantify the area of the dermal fibres in the cutaneous wounds after the proposed dermatological treatments. A total of 90 images were obtained and analysed. No statistically significant differences (P > 0.01) were observed in the volume or area of type 1 collagen fibres between the treatment groups. Significant differences (P < 0.01) were only identified for the volumes and areas of type 3 collagen, with treated animals also presenting lower mean values for the volume and area of elastic fibres compared to the control group.Discussion: The preponderance of type 3 immature collagen in the cutaneous wounds of animals treated with stem cells indicates active collagenase and greater fibroblastic activity, which is probably induced by stem cells. Diametrically, the identification of lower levels of elastic fibres in the cutaneous fragments treated with stem cells suggests that cell therapy does not contribute satisfactorily to elastogenesis. Previous reports suggested that mesenchymal stem cells may decrease elastin synthesis, and such a situation may have occurred in this study. The autologous mesenchymal stem cells increased the formation of collagen fibres in diabetic mice at the detriment of the formation of elastic fibres, thus suggesting active early collagen in the first 2 weeks of the cicatricial process.

scholarly journals Knuckle Pads – Practical Diagnostic Issues

2017 ◽  
Vol 2 (2) ◽  
pp. 169-172
Author(s):  
Anca Chiriac ◽  
Piotr Brzezinski ◽  
Liliana Foia ◽  
Cristian Podoleanu ◽  
Cosmin Moldovan ◽  
...  
Keyword(s):  
Skin Biopsy ◽  
Ultrasound Imaging ◽  
Clinical Picture ◽  
Histopathological Examination ◽  
Differential Diagnoses ◽  
Routine Practice ◽  
Knuckle Pads

Abstract Knuckle pads are thickening of the skin over the extensor surface of the proximal interphalangeal joints. Clinical picture, ultrasound imaging, and histopathological examination of the skin biopsy ascertain the diagnosis. In routine practice, two main differential diagnoses are important: knuckle pads vs. pseudo-knuckle pads and idiopathic vs. non-idiopathic forms of knuckle pads.

scholarly journals REGIONAL VARIATION IN THE MICROSCOPY AND TENSILE STRENGTH OF THE LINEA ALBA IN THE BABOON (PAPIO ANUBIS). Variación regional de la microscópia y resistencia a la tracción de la línea alba del babuino (Papio Anubis).

2016 ◽  
Vol 8 (3) ◽  
pp. 126-134
Author(s):  
Paul Odula ◽  
Stephen Kiama ◽  
Jameela Hassanali
Keyword(s):  
Tensile Strength ◽  
Rectus Abdominis ◽  
Abdominal Pressure ◽  
Elastic Fibres ◽  
Collagen Fibres ◽  
Papio Anubis ◽  
Xiphoid Process ◽  
Linea Alba ◽  
Diastasis Recti ◽  
Human Primate

Introducción: La línea alba conecta el rectus abdominis, y por lo tanto su debilitamiento o el aumento de la tension intra-abdominal puede resultar en una diastasis rectal. El objetivo de este estudio es investigar la morfología funcional y la resistencia a la tracción de la línea alba en un primate no humano. Materiales y métodos: Utilizando como puntos de referencia el xifoides, el ombligo y el tubérculo púbico, fueron resecados tejidos de la zonas epigástrica, umbilical e hipogástrica de la línea alba de siete babuinos machos. Estos tejidos se procesaron a través del microscopio y tensiometría. Resultados: La línea alba se compone principalmente de fibras de colágeno organizadas en tres láminas, a saber, superficiales, intermedias y profundas, además de algunas fibras elásticas. La lámina intermedia de la línea alba umbilical se caracterizó por estar formada de grupos compactos y gruesos de colágeno alineados longitudinalmente y oblicuamente que se fusionan en el centro y forman una masa. La fuerza máxima para romper la línea alba durante una tracción longitudinal y oblicua fue de 40 N/mm2 y 63.6 N/mm2 con una tensión de 0.35 y 1.19 respectivamente. El módulo de Young de la línea alba mostró que, la línea alba epigástrica y umbilical tuvo el mayor coeficiente de elasticidad media, de 289 N/mm2 y 328 N/mm2, respectivamente, cuando fueron expuestos a una tracción oblicua. Conclusión: La estructura de la línea alba del babuino está diseñada para soportar grandes tensiones o fuerzas multidireccionales.Introduction: The linea alba connects the rectus abdominis and thus weakening or increased abdominal pressure may result in diastasis recti. The study aims to investigate the functional morphology and the tensile strength of the linea alba in a non-human primate. Materials and Methods: Using the xiphoid process, the umbilicus, and the pubic tubercle as landmarks, tissues were resected from the epigastric, umbilical and hypogastric parts of the linea alba from seven male baboons. The tissues were processed for microscopy and tensiometry. Results: The linea alba was made up of mainly collagen fibres organized into three laminae namely a superficial, intermediate and deep in addition to a few elastic fibres. The intermediate lamina of the umbilical linea alba was characterized by thick compact bundles of longitudinally and obliquely aligned collagen bundles which fused in the midline to form a mass. The maximal/ ultimate stress needed to tear the linea alba during longitudinal and oblique traction was 40 N/mm2 and 63.6 N/mm2 at a strain of 0.35 and 1.19 respectively. The linea alba’s Young’s modulus showed that on average the epigastric and umbilical linea alba had the highest coefficient elasticity at 289 N/mm2 and 328 N/mm2 respectively, when they were exposed to oblique traction. Conclusion: The structure of the baboon linea alba is well organized to withstand strong multidirectional forces.

THE URINARY EXCRETION OF AMINOIMIDAZOLECARBOXAMIDE IN THE LESCH-NYHAN SYNDROME

PEDIATRICS ◽  
1970 ◽  
Vol 46 (4) ◽  
pp. 508-512
Author(s):  
David S. Newcombe
Keyword(s):  
Urinary Excretion ◽  
Clinical Evidence ◽  
Megaloblastic Anemia ◽  
Normal Subjects ◽  
Purine Metabolism ◽  
Folate Metabolism ◽  
Serum Folate ◽  
Normal Range ◽  
Purine Synthesis ◽  
The Mean

The urinary excretion of aminoimidazolecarboxamide (AIC), an intermediate in purine synthesis, was studied in five patients with the Lesch-Nyhan syndrome. The mean urinary AIC level for these subjects was 12.03 ± 6.9 mg AIC/mg creatinine as compared to a mean urinary excretion in normal subjects of 1.2 ± 0.6 mg AIC/mg creatinine. None of the patients had clinical evidence of megaloblastic anemia at the time of the study, and their serum folate levels were within the normal range. The increased urinary AIC excretion probably represents a reflection of the deranged purine metabolism in this syndrome and its measurement can be used as a screen for the Lesch-Nyhan syndrome and other disorders of purine and/or folate metabolism.

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