A Simple Micro Assay of Prolyl Hydroxylase Applicable to Skin Punch Biopsy Specimens

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.

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Uterine cervical punch biopsy specimens can be analyzed by1h mrs

Magnetic Resonance in Medicine ◽

10.1002/mrm.1910130216 ◽

1990 ◽

Vol 13 (2) ◽

pp. 324-331 ◽

Cited By ~ 36

Author(s):

Carolyn E. Mountford ◽

E. James Delikatny ◽

Marlen Dyne ◽

Kerry T. Holmes ◽

Wanda B. Mackinnon ◽

...

Keyword(s):

Punch Biopsy ◽

Biopsy Specimens

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Vulvar Skin Punch Biopsy

Primary Care Procedures in Women's Health ◽

10.1007/978-3-030-28884-6_21 ◽

2019 ◽

pp. 257-265

Author(s):

Matthew L. Picone

Keyword(s):

Punch Biopsy ◽

Skin Punch Biopsy

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Lupus vulgaris mimicking cutaneous leishmaniasis: A case report

Our Dermatology Online ◽

10.7241/ourd.20221.12 ◽

2022 ◽

Vol 13 (1) ◽

pp. 53-56

Author(s):

Nouf Faihan Bin Rubaian ◽

Haya Fahad Alzamami ◽

Gadah Abdulatif Alhosawi ◽

Leena Abdulrahman Almuhaish

Keyword(s):

Delayed Diagnosis ◽

Punch Biopsy ◽

Lupus Vulgaris ◽

Cutaneous Tuberculosis ◽

Dorsal Aspect ◽

Skin Punch Biopsy ◽

Diagnostic Difficulties ◽

Anti Tubercular Therapy ◽

The Right ◽

Saudi Male

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.

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Darier White disease

Nepal Journal of Dermatology Venereology & Leprology ◽

10.3126/njdvl.v9i1.5770 ◽

1970 ◽

Vol 9 (1) ◽

pp. 34-36

Author(s):

A Amatya ◽

D Karn ◽

E Aryal ◽

R Makaju ◽

A Shakya ◽

...

Keyword(s):

Punch Biopsy ◽

Darier’S Disease ◽

Darier's Disease ◽

Skin Punch Biopsy ◽

The World ◽

The Given

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

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Case Report: Borrelia-DNA Revealed the Cause of Arthritis and Dermatitis During Treatment With Rituximab

Frontiers in Neurology ◽

10.3389/fneur.2021.645298 ◽

2021 ◽

Vol 12 ◽

Author(s):

Johanna Sjöwall ◽

Georgios Xirotagaros ◽

Chris D. Anderson ◽

Christopher Sjöwall ◽

Charlotte Dahle

Keyword(s):

Bacterial Genome ◽

Punch Biopsy ◽

Calcium Pyrophosphate ◽

Young Female ◽

Monosodium Urate ◽

Patient History ◽

Skin Punch Biopsy ◽

The Right ◽

Antibody Levels ◽

Urate Crystals

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.

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Histomorphological Study of Skin Lesions in Punch Biopsy Specimens with Special References to Neoplastic Lesions

Indian Journal of Pathology Research and Practice ◽

10.21088/ijprp.2278.148x.7718.5 ◽

2018 ◽

Vol 7 (7) ◽

pp. 841-846

Author(s):

Mamatha K. ◽

◽

S. Susmitha ◽

Sathyashree K.V. ◽

Rama Devi P. ◽

...

Keyword(s):

Skin Lesions ◽

Punch Biopsy ◽

Biopsy Specimens ◽

Neoplastic Lesions

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Culture-Confirmed Reinfection of a Person with Different Strains of Borrelia burgdorferi Sensu Stricto

Journal of Clinical Microbiology ◽

10.1128/jcm.36.4.1015-1019.1998 ◽

1998 ◽

Vol 36 (4) ◽

pp. 1015-1019 ◽

Cited By ~ 11

Author(s):

William T. Golde ◽

Barbara Robinson-Dunn ◽

Mary Grace Stobierski ◽

Daniel Dykhuizen ◽

Ing-Nang Wang ◽

...

Keyword(s):

Borrelia Burgdorferi ◽

Profile Analysis ◽

Protein Profile ◽

Erythema Migrans ◽

Diagnostic Testing ◽

Serum Antibody ◽

Surface Protein ◽

Punch Biopsy ◽

Skin Punch Biopsy ◽

Different Strains

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.

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