scholarly journals Mucous Membrane Pemphigoid with Tracheal Involvement

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Arash Minaie ◽  
Salim R. Surani

34-year-old African American female with history of pemphigoid presented with hemoptysis. Patient was found to have mucous membrane pemphigoid involving the oropharynx and extending to trachea, till just above main stem carina. Four other cases described mucosal pemphigoid involving the trachea. We hereby present a brief review of current consensus on management of mucous membrane pemphigoid with airway involvement.

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fabiola D’Ambrosio ◽  
Isabella Marranzini-Rodriguez ◽  
Roxana Aguirre Castaneda ◽  
Claudia Boucher-Berry

Abstract INTRODUCTION: We present 2 pediatric patients with Hyperosmolar Hyperglycemic State (HHS) at diabetes onset. CASE 1: 3 year old African American female presented to the pediatrician office with a 5 day history of polydipsia, polyuria and emesis. POCT glucose read high and patient was transferred to the PICU. Laboratory studies were significant for serum glucose of 1032 mg/dl, Na 128 mMOL/L (corrected 142mMOL/L), VBG showed pH 7.36, HCO3 20 mMOL/L, Serum osm 331 mOsm/Kg. Patient received a 20ml/kg bolus of 0.9%NaCl, followed by 2 times maintenance IV fluids and glargine 2 units. Glucose dropped from 418 to 122 mg/dl in 3 hours. Due to this Dextrose was added and IVF rate was decreased. CASE 2: 8 year old African American obese male was admitted to the PICU for management of new onset diabetes. He presented with 3 days of flu-like symptoms and worsening drowsiness. Patient had increased consumption of large quantities of sugary beverages due to increased thirst. Laboratory workup: serum glucose of 2309 mg/dl, Na 133 mMOL/L (corrected 168 mMOL/L), pH 7.13, HCO3 10 mMOL/L. Patient was given 30 cc/kg NS bolus followed by an insulin drip of 0.1 u/kg/hour. Repeat studies 3 hours later showed a serum glucose of 1,414 mg/dl, Na 152 mMol/L (corrected 184 mMOL/L), pH 7.19, HCO3 17 mMOL/L, and serum osmolality of 408 mOsm/Kg. IVF were adjusted to correct the water deficit and insulin drip was decreased to 0.05u/kg/hour. DISCUSSION: HHS continues to be a challenging diagnosis due to its low frequency compared with Diabetic Ketoacidosis especially when presenting at a very young age. Most practitioners will mistake the presentation for DKA and start an insulin drip. The early use of insulin is not necessary in the setting of HHS due to the risk of complications. A fast drop in glucose decreases the osmotic pressure and compromises the circulatory status with a higher chance of thromboembolism. In mixed HHS and DKA, the management aligns more with the DKA management but the amount of fluids needed is higher and insulin infusion may cause fast drop of glucose with potential decrease of intravascular volume as in our second patient. It is imperative that the diagnosis of HHS is made early so that the appropriate treatment can be instituted. CONCLUSION: Appropriate fluid administration and delay in insulin administration are key in the management of HHS. The awareness of this possible presentation and the early recognition and appropriate fluid management are needed to improve outcomes. REFERENCE: Zeitler, Phil, et al. “Hyperglycemic Hyperosmolar Syndrome in Children: Pathophysiological Considerations and Suggested Guidelines for Treatment.” The Journal of Pediatrics, vol. 158, no. 1, 2011, doi:10.1016/j.jpeds.2010.09.048


2018 ◽  
pp. bcr-2018-225872
Author(s):  
Deepak Sambhara ◽  
Ji Hyae Lee ◽  
Seth M Pantanelli

A 26-year-old Caucasian man with no previous history of chemical injury presenting with an inability to open his right eye was investigated for mucous membrane pemphigoid and treated. Examination was notable for symblepharon of the right eye and impetigo-like lesions on the face and neck. A biopsy with immunohistochemical analysis was significant for linear deposits of C3 and immunoglobulin G at the level of the epithelial basement membrane, confirming the diagnosis of mucous membrane pemphigoid. Although mucous membrane pemphigoid classically presents bilaterally in women in the sixth and seventh decades of life, our patient was a young man with unilateral cicatrising conjunctivitis who may have been easily misdiagnosed without a high index of suspicion. A biopsy is required in cases of cicatrising conjunctivitis so that even atypical cases such as the one presented herein can be appropriately managed.


2022 ◽  
pp. 42-44
Author(s):  
Danielle C. Ware

A 61-year-old African American female presents to an outpatient family health center with a hyperpigmented nodular rash of 2 months’ duration. The rash first appeared on her abdomen before spreading across her upper arms, lower leg, back, face and scalp. She has a history of controlled type 2 diabetes mellitus, cerebral aneurysm rupture, Sjögren’s syndrome, asthma and a left below-the-knee amputation due to osteomyelitis. She smokes cigarettes but does not use alcohol or illicit substances. She has also noticed a dry cough with mild dyspnea on exertion over the past 6 months. On physical exam, hyperpigmented nodules are palpable in both the intradermal and subcutaneous layers of the skin. Nodules are firm, mobile and nontender. Alopecia is noted where scalp nodules are present. Her lungs exhibit diminished air movement throughout, with scattered, end-expiratory wheezing.


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4011-4011
Author(s):  
Randi J. Katz ◽  
Amir Steinberg ◽  
Robert Klafter

Abstract Factor VII deficiency is a rare autosomal recessive disorder. Its incidence is thought to be 1 in 500,000. Symptoms vary from mild to severe. Factor VII deficient patients usually do not experience bleeding if their level of factor VII is less than 10%. Manifestations are seen with levels less than 5%, and severe bleeding can occur with levels less than 1%. Surgical hemostasis is obtained with levels greater than 25%. Factor VII deficiency is notable for causing a prolonged PT with a normal aPTT, making the diagnosis easy to determine. This is a descriptive study based on a population of patients from our community based teaching hospital with severe Factor VII deficiency. We reviewed lab data and found any patients with less than a 5% factor deficiency from March 2004- June 2006. In our experience we have noted varying manifestations in moderate factor deficiency patients. We describe four patients with varying symptoms, all with factor levels less than 3%. Their charts were reviewed, and three of the patients were available for a telephone interview. Patient A is a 75 yo African American female found to have factor deficiency after an increased Prothrombin time (PT) of 31.2 seconds, INR 5.9, and Partial thromboplastin time (PTT) of 34.9 seconds on routine blood work. This patieny’s factor level was found to be 1.86%. Patient A denied any history of bleeding complications, including an uncomplicated tooth extraction. Patient B is a 46 yo African American female with a long history of bleeding complications. Laboratory data revealed a PT of 26 seconds, INR 4.2, PTT 22 seconds and a Factor level of 1%. She experienced years of heavy menstrual periods and nose bleeds. A hysterectomy was performed secondary to bleeding fibroids. She required multiple doses of novoseven as well as FFP. Patient C was diagnosed at the age of 11. Laboratory results revealed a factor level of 1.87 %, and a PT of 25.1 seconds and an INR of 4.1. She has had minor bleeding events, such as gum bleeding. She did receive FFP prior to a foot surgery, and tooth extraction. Patient D is a 46 year old Hispanic man found to have and INR of 4.3 and, factor VII 1.45. Pt had an uncomplicated cholocystectomy. This is a descriptive study of four different patients with factor VII levels of less than 2%. These four cases demonstrate the wide range of clinical manifestations that factor VII patients may experience. One patient did require novoseven prior to a hysterectomy. Though, as our cases illustrate, some patients do not experience any bleeding manifestations, and therefore, prophylactic plasma may not be required. Furthermore, treatment of factor VII deficient patients needs to be individualized, and guided by personal history. Coagulation Studies of our Patients Patient Prothrombin Time INR Factor VII A 31.2 5.9 1.86% B 26 4.2 1% C 25.1 4.1 1.87% D 46 4.3 1.45%


2019 ◽  
Vol 21 (2) ◽  
pp. 33-44
Author(s):  
Yadira V. Boza Oreamuno DDS, MSc ◽  
Mónica Evans Tinoco DMD, OPH ◽  
Diego Guillén Colombari DMD, Path ◽  
Ronald Torres Labardini DDS, OMS

Thymomas are the most common mediastinal neoplasms in adults. Patients with thymoma are frequently diagnosed with paraneoplastic syndromes and are generally associated with several autoimmune conditions. Sjögren's syndrome (SS) is an autoimmune inflammatory disorder, characterized by the lymphocyte-mediated destruction of the exocrine glands, which leads to the absence of glandular secretion, particularly salivary and lacrimal; hyposalivation can vary from a slight reduction in the flow of saliva with transient discomfort, to a serious deterioration of oral health and psychological distress. Mucous membrane pemphigoid (MMP) is a chronic, autoimmune disease that shows predominant mucosal involvement, most commonly affecting the oral cavity, followed by the conjunctiva, the nasal cavity and the esophagus; intraorally includes scaly gingivitis, vesicles, erosions covered by pseudomembranes and ulcers. The objective of this work is to present the first case of a patient with a history of thymoma, which, jointly presented SS and MMP; also highlight the importance of multidisciplinary management for an accurate and early diagnosis, as this increases the efficiency and efficacy of the treatment strategy.


Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1736-1736
Author(s):  
Kavita Natarajan ◽  
Ferdane Kutlar ◽  
Tao Li ◽  
Patrick Gallagher ◽  
Abdullah Kutlar

Abstract Hereditary pyropoikilocytosis (HPP) is a red cell membrane disorder classified under the broad umbrella of hereditary elliptocytosis (HE). It is usually the most severe form of HE and is inherited in an autosomal recessive manner. HE results from alterations in RBC membrane cytoskeleton proteins: spectrin, ankyrin, pallidin, band 4.1, and band 3. Quantitative or qualitative deficiencies result in varying clinical syndromes. In general, mutations in the α gene are closer to the amino terminal, and those in the β spectrin gene are nearer the carboxyl terminal and affect the formation of tetramers. We describe a patient associated with a novel mutation in the β and α spectrin genes. A 19 year old black female with a lifelong history of anemia and jaundice that worsened since age 15 presented with history of early satiety of a few months duration. Neither parent had a history of a blood disorder; a maternal uncle had history of splenectomy in his thirties. Her pre-splenectomy labs showed a Hb of 4.8g/dl with a MCV of 62, RDW of 38.8, and chemistries consistent with non-immune hemolytic anemia. Imaging and clinical exam revealed a spleen of 19cms and bizarre red cell morphology including RBC fragmentation and microcytosis. Post splenectomy the patient is entirely asymptomatic with a Hb of 13.2 with pathologic exam of the spleen showing benign, enlarged, red pulp consistent with hypersplenism. Genomic DNA was extracted from peripheral blood. Sequencing of the β-spectrin exon 30 was undertaken at the MCG Sickle Cell Center that revealed a GCT → CCT mutation (Ala → Pro) in codon 2053. This mutation has been previously reported in the homozygous state in a young boy from Mali with HPP (β spectrin Kayes). Since we could not explain the relatively severe phenotype in this patient with heterozygous β spectrin Kayes, further molecular analyses was performed at Yale. This revealed a mutation in the α-spectrin exon 5; L207P, α spectrin St.Louis. This is the 2nd reported case of HPP due to compound heterozygosity for an α and β spectrin mutation and the first combination of α spectrin St. Louis and β spectrin Kayes. African American female, 19 years old Diagnoses: “Pyropoikilocytosis” Sequence data: Spectrin bate-Kayes African American female, 19 years old Diagnoses: “Pyropoikilocytosis” Sequence data: Spectrin bate-Kayes


2018 ◽  
Vol 08 (03) ◽  
pp. 041-044
Author(s):  
Santhosh Shenoy ◽  
Madhurya N Kedlaya ◽  
Sajna H R. ◽  
Amitha Ramesh

AbstractMucous membrane pemphigoid (MMP) is a rare inflammatory, autoimmune, subepithelial vesiculobullous lesion. Oral mucosa is affected in almost 90% of cases. Its development is chronic with a possible involvement of ocular, laryngeal and genital mucosa. Spontaneous remission is rare. Currently, improving oral hygiene, topical corticosteroid treatment is used to control the oral lesions of MMP. In the present case report, a 53 year old female patient with a known history of hypothyroidism reported to the department of Periodontology with a complaint of burning sensation and tenderness in the gums on intake of spicy food for the past one week .The patient had also noticed the formation of blisters on the gums which would break off on their own. Hence provisional diagnosis of MMP was considered based on the clinical and histopathological examination which was later confirmed with immunofluorescent interpretations. The treatment objective is to suppress extensive blister formation, to promote healing, and to prevent scarring. The above objectives were met in our case by thorough periodontal maintenance and steroid therapy. She also presented with skin lesions due to contact dermatitis caused by occupational exposure to tobacco which makes this case report unique.


2011 ◽  
Vol 15 (6) ◽  
pp. 344-346 ◽  
Author(s):  
Matthew Henry ◽  
Adam Perry

Background and Objective: This is a somewhat rare case of a 19-year-old African American female with multiple cutaneous granular cell tumors. Granular cell tumors are of neural origin, except in rare cases, and are considered benign, with a low incidence of malignancy. The clinical presentation varies greatly, but these tumors are most commonly painful and slow growing, with two-thirds occurring on the head and neck. Patients are most commonly in their second to fourth decades of life, two-thirds are black, and two-thirds are women. Granular cell tumors are diagnosed by the characteristic pathologic findings of polygonal cells with eosinophilic granular cytoplasm. Conclusion: These tumors are most commonly singular but can be multiple in 10 to 15% of patients. Older patient age, rapid growth or enlargement, and a history of local recurrence should raise concern for malignant behavior. The distribution and family history in this case are suggestive of possible mosaicism.


Author(s):  
Jeannette E. Brown

This is the second of two books about African-American female chemists. The first book (African-American Women Chemists, 2011) focused on the early pioneers--women chemists from the Civil War to the Civil Rights Act. African American Women Chemists in the Modern Era focuses on contemporary women who have benefited from the Civil Rights Act and are now working as chemists or chemical engineers. This book was produced by taking the oral history of women who are leaders in their field and who wanted to tell the world how they suceeded. It features eighteen amazing women in this book and each of them has a claim to fame, despite hiding in plain sight. These women reveal the history of their lives from youth to adult. Overall, Jeannette Brown aims to inspire women and minorities to pursue careers in the sciences, as evidenced by the successful career paths of the women that came before them.


2020 ◽  
pp. 112067212096904
Author(s):  
Norman C Charles ◽  
Dinah K Chen ◽  
Douglas R Lazzaro ◽  
Irina Belinsky

Conjunctival involvement in sarcoidosis is commonly characterized by epibulbar nodules or follicular conjunctivitis. The authors describe an apparently healthy woman who developed extensive monocular cicatricial conjunctivitis with symblepharon. The array of conditions presenting with cicatricial conjunctivitis was considered, with mucous membrane pemphigoid leading the diagnostic possibilities. Conjunctival biopsy disclosed the non-infectious, non-caseating granulomas of sarcoidosis and a systemic evaluation disclosed pulmonary nodules and hilar lymphadenopathy. As the patient had no respiratory symptoms and an old history of hepatic steatosis, oral hydroxychloroquine and topical cyclosporin were chosen for therapy rather than systemic corticosteroids.


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