Accuracy of serration pattern analysis by direct immunofluorescence in subepidermal autoimmune blistering diseases.

Background Direct immunofluorescence (DIF) is essential for the diagnosis of sub-epidermal immunobullous diseases (SIBD). Bullous pemphigoid (BP), a sub-epidermal immunobullous disease, shows linear IgG and C3 deposition along the dermo-epidermal junction by DIF. However, similar histological and DIF findings are also seen in epidermolysis bullosa acquisita (EBA). High-power examination of antibody deposition by DIF in a "u" or "n" serrated pattern can help differentiate these two entities. Aims/Objectives The aim of this study was to determine the diagnostic accuracy of serration patterns in IgG-mediated sub-epidermal immunobullous disease. Methods All cases of IgG-mediated sub-epidermal immunobullous disease diagnosed over the past 2 years and 9 months period and confirmed serologically, were included. Examination of the serration pattern in DIF was assessed on oil emersion. Salt split skin indirect immunofluorescence (SSS IIF), BP180 enzyme-linked immunosorbent assay (ELISA), profile ELISA and BIOCHIP mosaic were performed, wherever available. Results This study included 74 cases of bullous pemphigoid, eight cases of mucus membrane pemphigoid (MMP) and one case of epidermolysis bullosa acquisita. The characteristic zigzag "n" pattern was visualised in 66 out of 82 cases (80.5%) of the pemphigoid group (BP + MMP); the single epidermolysis bullosa acquisita case showed the "u" serrated pattern. No statistical correlation was seen between serration pattern and BP180 positivity by ELISA (P = 0.05). Limitations The study is limited by the single case of epidermolysis bullosa acquisita (which could be due to rarity of this disease in north Indian population due to genetic variation), lack of detailed serological investigations and immunoblot in all cases. Conclusion Serration pattern analysis is an easy-to-interpret and highly useful technique for characterisation of sub-epidermal immunobullous diseases.

Correlating clinical and laboratory diagnostic modalities in the diagnosis of epidermolysis bullosa in a resource-poor setting.

BACKGROUND: Mutational analysis and immunofluorescence antigen mapping (IFM) are recommended as the laboratory tools of choice for diagnosing EB. In the past, transmission electron microscopy (TEM) was considered the gold standard, and more recently, clinical diagnostic matrix (CDM) has shown good concordance with next-generation sequencing (NGS). METHODS: In this prospective diagnostic study, a skin biopsy was taken for TEM and IFM in consecutive patients with EB (aged >6 months) diagnosed clinically with CDM. Wherever possible, mutational analysis was done using targeted NGS. RESULTS: Of the 80 patients diagnosed with CDM, skin biopsy specimens of 42 patients were assessed using TEM, and of 59 patients using IFM. NGS was done in 39 patients. Taking NGS as the gold standard for diagnosing EB (n = 39 patients), the concordance with CDM, TEM, and IFM were estimated at 84.6% (33/39), 78.5% (11/14), and 76% (19/25) respectively. CDM showed a substantial agreement with NGS (k = 0.69, p < 0.001). CONCLUSIONS: In comparison to NGS, the highest concordance was seen with CDM followed by TEM and IFM in diagnosing major subtypes of EB.

Nasal Chondromesenchymal Hamartoma.

Nasal chondromesenchymal hamartoma (NCMH) is a rare, benign lesion of the sinonasal tract. It usually presents as a polypoid mass in infants and older children. Imaging studies and endoscopy are required to delineate the extent of the lesion and aid in its excision. This unusual lesion is composed of proliferating mesenchymal and cartilaginous elements. Recently, a genetic association between NCMH and DICER1 mutation has been established. It is important for pathologists to be familiar with this entity to avoid misdiagnosis since the lesion is benign and surgical excision is curative.

Características clínicas y resultados en pacientes de lepra multibacilares (MB) tratados con 12 meses de MDT-MBR OMS: análisis retrospectivo de 750 pacientes de una clínica para lepra en un hospital especializado del norte de la india / No disponible

Antecedentes: La pauta de 12 meses de multiterapia (MDT) pauta multibacilar (MBR) fue implantada en la India en 1998, pero todavía adolece de información fiable sobre su posible eficacia. Objetivo: Evaluar la eficacia de la MDT MBR de 12 meses en apcientes multibacilares (MB) en nuestro centro. Metodología: Es un estudio retrospectivo que analiza las historias clínicas de 1210 pacientes registrados en la clínica para lepra de nuestra institución desde 1999 hasta 2010. Se observó un elevado Índice Bacteriano (IB) ≥ 3+, en 313 pacientes en el momento del registro. Cuatrocientos un pacientes experimentaron leproreacciones (54,9%9. ENL recurrente sólo se detectó en 14 pacientes incluso 5 años después de haber recibido el alta. La correlación clínico-histológica se examinó en 361 (49,5%) de los pacientes. Durante el periodo de seguimiento desde 9 meses a 10 años, casi todos los pacientes presentaron una aclaración evidente de sus lesiones cutáneas, incluyendo la mejoría histopatológica. Solo recidivaron 13 (1.7%). Conclusiones: Todos los pacientes respondieron sin problemas a la pauta MDT-MBR de 12 meses sin efectos adversos destacables. El índice total de recidivas fue de sólo 1,7%. Por tanto, la recomendación de la MDT MBR de 12 meses para todos los pacientes MB es robusta y práctica (AU)

Backgorund: Shortened (12 months) multidrug multibacillary regimen (MDT MBR) was implemented in India in 1998, however there is yet a paucity of crucial data on its long term outcome. Objetive. To assess the efficacy of 12 months MDT MBR in multibacillary (MB) patients at our centre. Design:This eas a retrospective study undertaken analyzing the clinic records of 1210 patients registered at the leprosy clinic of our institute form 1999-2010. Results. 730 MB patients were treated with 12 months MDT MBR over this period. High bacillary index (BI) ≥ 3+, was observed in 313 patients at the time of registration. Four hundred and one (54,9%) patients experienced lepra reactions. Recurrent ENL was observed in only 14 patients which manifested even after 5 years of stopping treatment. Clinico-histological correlation was noted in 361 (49,5%) patients. During follow up period ranging from 9 months to 19 years, nearly all patients had clearance of skin lesions including histopathological/bacteriological improvement. Only 13 (1.7%9 patients relapsed. Conclusions: all patients responded well with 12 months MDT MBR without significant side effects. The overall relapse rate was only 1.7%. Thus, the recommendation for 12 months MDT MBR for all MB patients is robust and operationally practical, a decision which seems logical (AU)

Cystic, exophytic teratoma of conus medullaris presenting with chronic renal failure.

BACKGROUND: Pure chronic renal failure as a presentation of a conus neoplasm is a rare entity. In addition, few case reports exist describing an intramedullary teratoma among adults. CASE DESCRIPTION: We present a unique case of intramedullary mature cystic teratoma, presenting as isolated renal failure. CONCLUSIONS: As distinguished radiological criteria cease to exist regarding intramedullary teratomas, these neoplasms continue to provide pathological surprises. Surgical excision remains the treatment of choice. The literature review indicates good surgical outcome.

Plasma cell balanitis: clinicopathologic study of 112 cases and treatment modalities.

BACKGROUND: Plasma cell balanitis or Zoon's balanitis is an idiopathic benign condition of the genitalia that mostly presents as a solitary, persistent plaque on the glans primarily in uncircumcised, middle-aged to older men. METHODS: One hundred twelve patients with a clinical diagnosis of plasma cell balanitis were studied between January 1985 and April 2003. RESULTS: The age of the patients ranged from 24 to 70 years. The majority of patients had symptoms for more than 12 months. Lesions involved the prepuce and glans in the majority of patients (66; 58.92%), the prepuce only in 26 patients (23.21%), and the glans only in 20 patients (17.85%). Tissue for histopathology was available in 96 patients. Histologically, epidermal edema, a dense upper dermal band of chronic inflammatory cells, including many plasma cells, dilated capillaries, extravasated red blood cells, and hemosiderin deposition, was seen. In most, cases, plasma cell balanitis was successfully treated by circumcision. CONCLUSIONS: This report describes our experience with plasma cell balanitis and reviews its clinical and histopathologic aspects. The treatment modalities are also reviewed, and the importance of circumcision as the treatment of choice is emphasized.