Utility of Abdominal Skin Punch Biopsy for Detecting Systemic Amyloidosis

Author(s):  
Bicong Wu ◽  
Daniel M Pak ◽  
Kelly D Smith ◽  
Michi M Shinohara
2021 ◽  
Vol 14 ◽  
pp. 175628642110043
Author(s):  
Nadine Egenolf ◽  
Caren Meyer zu Altenschildesche ◽  
Luisa Kreß ◽  
Katja Eggermann ◽  
Barbara Namer ◽  
...  

Background and aims: Small fiber neuropathy (SFN) is increasingly suspected in patients with pain of uncertain origin, and making the diagnosis remains a challenge lacking a diagnostic gold standard. Methods: In this case–control study, we prospectively recruited 86 patients with a medical history and clinical phenotype suggestive of SFN. Patients underwent neurological examination, quantitative sensory testing (QST), and distal and proximal skin punch biopsy, and were tested for pain-associated gene loci. Fifty-five of these patients additionally underwent pain-related evoked potentials (PREP), corneal confocal microscopy (CCM), and a quantitative sudomotor axon reflex test (QSART). Results: Abnormal distal intraepidermal nerve fiber density (IENFD) (60/86, 70%) and neurological examination (53/86, 62%) most frequently reflected small fiber disease. Adding CCM and/or PREP further increased the number of patients with small fiber impairment to 47/55 (85%). Genetic testing revealed potentially pathogenic gene variants in 14/86 (16%) index patients. QST, QSART, and proximal IENFD were of lower impact. Conclusion: We propose to diagnose SFN primarily based on the results of neurological examination and distal IENFD, with more detailed phenotyping in specialized centers.


2022 ◽  
Vol 13 (1) ◽  
pp. 53-56
Author(s):  
Nouf Faihan Bin Rubaian ◽  
Haya Fahad Alzamami ◽  
Gadah Abdulatif Alhosawi ◽  
Leena Abdulrahman Almuhaish

Lupus vulgaris (LV) is a progressive, chronic form of cutaneous tuberculosis (CTB). The head and neck regions are the most commonly affected sites, followed by the arms and legs. Occurring in unusual sites may pose diagnostic difficulties. Herein, we report a case of LV present on the dorsal aspect of the right hand in a twenty-year-old Saudi male. It was misdiagnosed as leishmaniasis as the patient lived in an area in which it was endemic, and was treated accordingly with no benefit. A skin punch biopsy was taken and the diagnosis of LV was confirmed. The lesion responded well to anti-tubercular therapy (ATT), yet healed with atrophic scarring. Although rare, clinicians must be aware of the importance of considering CTB as an important differential, as misdiagnosis or delayed diagnosis of this entity may eventually cause prolonged morbidity.


1970 ◽  
Vol 9 (1) ◽  
pp. 34-36
Author(s):  
A Amatya ◽  
D Karn ◽  
E Aryal ◽  
R Makaju ◽  
A Shakya ◽  
...  

Darier’s disease was described inependently by Darier and White in 1989 AD. Reported prevalence varies from 1/100,000 in Denmark to 1 in 30- 35,000 in northern England and Scotland.1 Darier’s disease has been reported from other parts of the world, however,there has been no reported cases in Nepal. It is an inherited autosomal dominat disease characterized by dark crusty lesions over the seborrheic areas of the skin. We are reporting a case of Darier’s disease in a Nepalese patient who developed skin leison’s over his face and body at the age of 12 years. We took skin punch biopsy from the leisons, which showed findings suggestive of Darier’s disease. Our case was treated with isotrerenoin and topical keratolytics. He responded with the given treatment within two weeks of therapy. DOI: http://dx.doi.org/10.3126/njdvl.v9i1.5770 NJDVL 2010; 9(1): 34-36


2021 ◽  
Vol 12 ◽  
Author(s):  
Johanna Sjöwall ◽  
Georgios Xirotagaros ◽  
Chris D. Anderson ◽  
Christopher Sjöwall ◽  
Charlotte Dahle

Borrelia-specific antibodies in serum did not contribute to the diagnosis of Borrelia arthritis or Borrelia-associated dermatitis in a young woman with ongoing treatment with rituximab due to multiple sclerosis. The diagnosis was confirmed by the detection of Borrelia-DNA in a skin punch biopsy. The patient history did not reveal any tick exposure. She had suffered for several months from fluctuating pain and swelling of the right knee as well as skin involvement with redness and oedema around the ankle of the same leg. Monoarthritis was confirmed by a rheumatologist. Knee puncture was performed but the synovial fluid was only sufficient for microscopic examination of crystals. Neither monosodium urate crystals nor calcium pyrophosphate crystals were found. Borrelia serology in blood revealed borderline levels of immunoglobulin (Ig)M and IgG, respectively. Treatment with doxycycline resulted in resolution of the joint and skin manifestations within a month. This case highlights that Borrelia-specific antibody levels cannot be reliably interpreted in patients who have received B-cell depleting therapy. Under these circumstances, detection of the bacterial genome in different body fluids, such as in the skin, can be a useful complement to the diagnosis of Lyme disease. In this young female, the diagnosis would certainly have been further delayed without the detection of Borrelia-DNA in the skin.


1998 ◽  
Vol 36 (4) ◽  
pp. 1015-1019 ◽  
Author(s):  
William T. Golde ◽  
Barbara Robinson-Dunn ◽  
Mary Grace Stobierski ◽  
Daniel Dykhuizen ◽  
Ing-Nang Wang ◽  
...  

In recent years, the utility of serum-based diagnostic testing for Lyme disease has improved substantially; however, recovery by culture of the bacterium from skin biopsies of suspected patients is still the only definitive laboratory test. Reinfection of patients has been assumed to occur but as yet has not been documented by serial isolates from the same person. We present a case of culture-confirmed reinfection of a patient in Menominee County, Michigan. Borrelia burgdorferi was isolated from the skin punch biopsy specimens during each episode of erythema migrans (EM) and was subjected to molecular strain typing, genetic analysis of two outer surface protein genes, protein profile analysis, and serum antibody response testing. Results show that these isolates are distinct strains of the bacterium and that the two episodes of EM were caused by independent infections. This report describes the documented, culture-confirmed reinfection of a human by two different strains of B. burgdorferi.


2019 ◽  
Vol 180 (4) ◽  
pp. 937-938
Author(s):  
M. Danilenko ◽  
K. Hodgson ◽  
R. Stones ◽  
A. Husain ◽  
M. Zangarini ◽  
...  

2020 ◽  
Vol 13 (1) ◽  
pp. 4-8
Author(s):  
Suman Poudel ◽  
Sunita Ranabhat ◽  
Gita Pun

Introduction: Leprosy is chronic granulomatous disease caused by Mycobacterium leprae. Clinically diagnosed cases of leprosy can be evaluated by punch biopsy. It can be classified according to Ridley and Jopling Classification. Objective: To study the different spectrum of leprosy and its Bacillary Index (BI), evaluate the agreement between clinical and histopathological diagnosis. Materials and Methods: This is a hospital based cross sectional retrospective study done for the period of 6 months from January to June 2019. The data were subjected to kappa analysis by using SPSS version 24 to see the agreement between clinical and histopathological diagnosis. Results: Out of 62 cases of clinically diagnosed cases of leprosy three (4.83%) cases turned out to be other granulomatous diseases. According to Ridley and Jopling classification, clinical and histopathological agreement was seen in 38 (61.29%) cases. Agreement of 100% was seen in Indeterminate leprosy (IL) and Borderline tuberculoid leprosy (BT). The BI was more in Lepromatous leprosy (LL), Borderline lepromatous (BL) whereas IL, BT and Tuberculoid leprosy (TT) showed less BI. Overall there was moderate agreement between clinical and histopathological diagnosis (kappa- 0.505) which was statistically significant (p value <0.05). Conclusion: There was moderate agreement between the clinical and histopathological diagnosis of subtype of leprosy. The Bacillary load was high in LL whereas least in TT and is determined by immune system.


2005 ◽  
Vol 42 (3) ◽  
pp. 378-381 ◽  
Author(s):  
Y. Kim ◽  
S. Reinecke ◽  
D. E. Malarkey

A 1-year-old, spayed, female, mixed-breed dog had two reddish-purple cutaneous lesions, one on the right dorsal antebrachium and the other on the right shoulder. The lesions consisted of approximately 13 x 3 cm and 15 x 10 cm, irregular, patchy regions of 0.5-3.0 cm, circular, sometimes raised, reddish-purple swellings resembling ecchymoses. The lesion on the antebrachium had been noticed since the dog was adopted at 6 months of age and appeared to have increased in size over an 11-week period, at which time skin punch biopsy revealed an infiltrative pattern of well-differentiated blood vessels leading to an interpretation that the lesion was a well-differentiated hemangiosarcoma. The second lesion was revealed when the dog had its fur shaved in that area during surgical preparation to excise the antebrachial lesion. No other skin lesions were found on the dog. Microscopically, there was a widely disseminated and infiltrative-like pattern of benign-appearing small blood vessels, which were throughout the superficial and deep dermis and subcutis. Although the disseminated nature suggested malignancy, the histologic appearance of well-differentiated small blood vessels and nonprogressive clinical features indicate that the lesions were benign. The dog has been followed for 6 years and to date has no evidence of progression of the antebrachial lesion or shoulder lesion. To the authors' knowledge, this is the first report of a congenital angiomatosis-like lesion in a young dog, with extensive involvement of the forelimb.


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