scholarly journals Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

2013 ◽  
Vol 3 (2) ◽  
pp. 61-64
Author(s):  
Deepthi Koganti
Keyword(s):  
Oral Cavity ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Internal Organs ◽  
Periodic Acid Schiff ◽  
Laryngeal Involvement ◽  
Hyaline Material

ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice. How to cite this article Koganti D. Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice. Int J Phonosurg Laryngol 2013;3(2):61-64.

scholarly journals A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx

2014 ◽  
Vol 4 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Mahesh Chandra Sahu ◽  
Maitreyee Panda ◽  
Nibedita Patro
Keyword(s):  
Oral Mucosa ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Autosomal Recessive Inheritance ◽  
Clinical Severity ◽  
Striated Muscles ◽  
Periodic Acid Schiff ◽  
Lipoid Proteinosis ◽  
The Central Nervous System ◽  
Hyaline Material

ABSTRACT Lipoid proteinosis (LP) is a rare genetic disease with autosomal recessive inheritance. It most often involves deposition of periodic acid Schiff positive hyaline material in skin, oral mucosa, larynx and other tissues. But it also involves the central nervous system, lungs, lymph nodes and striated muscles. Hoarseness, small papules on the eyelid border (moniliform blepharosis), enlarged tongue, waxy skin, and diffuse verrucous skin colored or yellowish papules and plaques on traumatized areas and oral mucosa are the most common features leading to the clinical diagnosis of LP. We present the case report of a 12-year-old boy with significant hoarseness, inability to protrude the tongue, beaded papules along the eyelid margins, and scarring of the skin. Of his two sisters, one had the same symptoms but with less clinical severity and the other had no features of LP. How to cite this article Swain SK, Panda M, Patro N, Sahu MC. A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx. Int J Phonosurg Laryngol 2014;4(1):23-26.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

β-Mannosidosis in German Shepherd Dogs

2019 ◽  
Vol 56 (5) ◽  
pp. 743-748 ◽  
Author(s):  
Robert D. Jolly ◽  
Keren E. Dittmer ◽  
Dorian J. Garrick ◽  
Anastasia Chernyavtseva ◽  
Kim M. Hemsley ◽  
...  
Keyword(s):  
Nervous Tissue ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Periodic Acid ◽  
Causative Mutation ◽  
Lysosomal Storage ◽  
German Shepherd ◽  
Periodic Acid Schiff ◽  
Genomic Studies ◽  
Renal Tubular

A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects. Histopathology showed severe vacuolation of neurons, astrocytes in nervous tissue, renal tubular epithelial cells, and macrophages in nervous tissue, spleen, and liver. Vacuoles appeared empty with no storage material stained by periodic acid–Schiff (PAS) or Sudan black stains, leading to a diagnosis of a lysosomal storage disease and in particular an oligosaccharidosis. Biochemical and genomic studies showed that this was β-mannosidosis, not previously diagnosed in dogs. A c.560T>A transition in exon 4 of the MANBA gene was found, which segregated in these and other family members in a manner consistent with it being the causative mutation of an autosomal recessive disease. This mutation led to substitution of isoleucine to asparagine at position 187 of the 885 amino acid enzyme, a change expected to have functional significance.

scholarly journals Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

2020 ◽  
pp. jmedgenet-2020-107042
Author(s):  
Chencheng Yao ◽  
Chao Yang ◽  
Liangyu Zhao ◽  
Peng Li ◽  
Ruhui Tian ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periodic Acid ◽  
Compound Heterozygous ◽  
Obstructive Azoospermia ◽  
Autosomal Recessive Mode ◽  
Loss Of Function ◽  
Meiotic Arrest ◽  
Causative Gene ◽  
Periodic Acid Schiff ◽  
Mode Of Inheritance

BackgroundThe genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear.MethodsTwo Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid–Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.ResultsWe identified compound heterozygous loss of function (LoF) variants of SHOC1 (c.C1582T:p.R528X and c.231_232del:p.L78Sfs*9, respectively) in both affected cases with NOA from family 1. In family 2, homozygous LoF variant in SHOC1 (c.1194delA:p.L400Cfs*7) was identified in the siblings with infertility. PAS, IHC and meiotic chromosomal spread analyses demonstrated that the spermatogenesis was arrested at zygotene stage in the three patients with NOA. Consistent with the autosomal recessive mode of inheritance, all of these SHOC1 variants were inherited from heterozygous parental carriers. Intriguingly, WES of 362 sporadic NOA cases revealed one additional NOA case with a bi-allelic SHOC1 LoF variant (c.1464delT:p.D489Tfs*13).ConclusionTo the best of our knowledge, this is the first report identifying SHOC1 as the causative gene for human NOA. Furthermore, our study showed an autosomal recessive mode of inheritance in the NOA caused by SHOC1 deficiency.

scholarly journals Pathological Findings in the Pituitary Glands of Dogs and Cats

2018 ◽  
Vol 55 (6) ◽  
pp. 880-888 ◽  
Author(s):  
Laura Polledo ◽  
Guy C. M. Grinwis ◽  
Peter Graham ◽  
Mark Dunning ◽  
Kerstin Baiker
Keyword(s):  
Adrenocorticotropic Hormone ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Histopathological Diagnosis ◽  
Periodic Acid Schiff ◽  
Melanocyte Stimulating Hormone ◽  
Nodular Hyperplasia ◽  
Cystic Changes ◽  
Pituitary Glands ◽  
Hematoxylin And Eosin

With the exception of classic functional adenomas in dogs and horses, pituitary lesions are infrequently described in the veterinary literature. Approximately 10% of pituitary glands from asymptomatic humans contain abnormalities, but the equivalent proportion in small animals is unknown. Pituitary glands from 136 dogs and 65 cats collected during routine necropsies were examined to determine the prevalence of pituitary lesions and their histopathological diagnosis. Lesions were characterized in sections stained with hematoxylin and eosin, periodic acid-Schiff (PAS), Gordon and Sweet’s and reticulin stains, and immunohistochemistry for adrenocorticotropic hormone (ACTH), growth hormone, melanocyte stimulating hormone–α, and prolactin. Pituitary abnormalities were identified in 36 of 136 (26.4%) dogs and 10 of 65 (15.3%) cats. Cystic changes were the most common lesion, occurring in 18 (13.2%) dogs and 8 (12.3%) cats. Pituitary neoplasia was detected in 14.1% (12/85) of middle-aged and old dogs; 1 (1.5%) cat had pituitary nodular hyperplasia. PAS and reticulin stains helped differentiate ACTH-immunoreactive adenomas from hyperplastic nodules: adenomas contained PAS-positive intracytoplasmic granules and loss of the normal reticulin network. One dog had a pituitary carcinoma with infiltration into the thalamus. Other pituitary abnormalities included secondary metastases (2 dogs) and hypophysitis (4 dogs, 1 cat). In most cases, the lesion appeared to be subclinical and could be considered incidental, whereas clinical manifestations were apparent in only 4 dogs (2.9%) and none of the cats with pituitary lesions. Pituitary abnormalities are common in dogs and cats, and their clinical relevance requires further investigation.

scholarly journals Subclinical onychomycosis in patients with type II diabetes

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Amira Elbendary ◽  
Amira El Tawdy ◽  
Naglaa Zaki ◽  
Mostafa Alfishawy ◽  
Amr Rateb
Keyword(s):  
Early Detection ◽  
Type Ii Diabetes ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Diabetic Patients ◽  
Type Ii ◽  
Periodic Acid Schiff ◽  
Cross Sectional ◽  
Uncontrolled Diabetes ◽  
Fungal Organisms

Fungal organisms could be present in the nail without any clinical manifestations. As onychomycosis in diabetics has more serious complications, early detection of such infection could be helpful to prevent them. We aim in this study to assess the possibility of detecting subclinical onychomycosis in type II diabetic patients and addressing possible associated neuropathy. A cross sectional, observational study included patients with type II diabetes with normal big toe nail. All were subjected to nail clipping of the big toe nail, followed by staining with Hematoxylin and Eosin and Periodic-Acid-Schiff (PAS) stains and examined microscopically. A total of 106 patients were included, fungal infection was identified in eight specimens, all were uncontrolled diabetes, and six had neuropathy. Using the nail clipping and microscopic examination with PAS stain to detect such subclinical infection could be an applicable screening test for diabetic patients, for early detection and management of onychomycosis.

scholarly journals Underestimated Amoebic Appendicitis among HIV-1-Infected Individuals in Japan

2016 ◽  
Vol 55 (1) ◽  
pp. 313-320 ◽  
Author(s):  
Taiichiro Kobayashi ◽  
Koji Watanabe ◽  
Hideaki Yano ◽  
Yukinori Murata ◽  
Toru Igari ◽  
...  
Keyword(s):  
Acute Appendicitis ◽  
Clinical Features ◽  
Periodic Acid ◽  
Periodic Acid Schiff ◽  
Content Type ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Life Threatening ◽  
Pas Staining ◽  
Hiv 1

ABSTRACT Entamoeba histolytica is not a common causative agent of acute appendicitis. However, amoebic appendicitis can sometimes be severe and life threatening, mainly due to a lack of awareness. Also, its frequency, clinical features, and pathogenesis remain unclear. The study subjects were HIV-1-infected individuals who presented with acute appendicitis and later underwent appendectomy at our hospital between 1996 and 2014. Formalin-fixed paraffin-embedded preserved appendix specimens were reexamined by periodic acid-Schiff (PAS) staining and PCR to identify undiagnosed amoebic appendicitis. Appendectomies were performed in 57 patients with acute appendicitis. The seroprevalence of E. histolytica was 33% (14/43) from the available stored sera. Based on the medical records, only 3 cases were clinically diagnosed as amoebic appendicitis, including 2 diagnosed at the time of appendectomy and 1 case diagnosed by rereview of the appendix after the development of postoperative complications. Retrospective analyses using PAS staining and PCR identified 3 and 3 more cases, respectively. Thus, E. histolytica infection was confirmed in 9 cases (15.8%) in the present study. Apart from a significantly higher leukocyte count in E. histolytica -positive patients than in negative patients (median, 13,760 versus 10,385 cells/μl, respectively, P = 0.02), there were no other differences in the clinical features of the PCR-positive and -negative groups. In conclusion, E. histolytica infection was confirmed in 9 (15.8%) of the appendicitis cases. However, only 3, including one diagnosed after intestinal perforation, were diagnosed before the present analyses. These results strongly suggest there is frequently a failure to detect trophozoites in routine examination, resulting in an underestimation of the incidence of amoebic appendicitis.

scholarly journals Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child

2021 ◽  
Vol 67 (5) ◽  
pp. 53-57
Author(s):  
N. Yu. Raygorodskaya ◽  
E. P. Novikova ◽  
A. N. Tyulpakov ◽  
M. A. Kareva ◽  
N. A. Nikolaeva ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Gender Reassignment ◽  
And Gender ◽  
21 Hydroxylase Deficiency

11β-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11β-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11β-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.

Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease

2021 ◽  
Vol 14 (12) ◽  
pp. e244240
Author(s):  
Ryan Curtis Roopnarinesingh ◽  
Noel Edward Donlon ◽  
John V Reynolds
Keyword(s):  
Rare Disease ◽  
Enzymatic Degradation ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Cartilage Destruction ◽  
Homogentisic Acid ◽  
Connective Tissues ◽  
Tendon Ruptures ◽  
Published Research

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA deposits in connective tissues resulting in pigmentation (ochronosis), plaque formation and accelerated cartilage destruction. With this, many patients who suffer from AKU develop ochronotic arthropathies, tendon ruptures, fractures, and chronic joint pain. Similarly, patients can develop cardiac valvular dysfunction and interstitial renal disease. Our two cases highlight the array of pathologies seen in AKU and, in light of newly published research, give us a platform from which we can discuss the developments in management of this rare disease.

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