Distinct Clinical Appearance Research Articles

Homoeopathic Treatment of Childhood Herpes Zoster—A Case Series

Abstract Background Herpes zoster (HZ) is a relatively rare infectious disease in the paediatric population as compared to adults, occurring due to the reactivation of latent varicella-zoster virus that persists in the posterior root ganglion. HZ can develop any time after the primary infection and is characterised by grouped vesicular rashes limited to single dermatome. Diagnosis is based on a distinct clinical appearance of HZ. Its clinical course is variable, and it requires prompt medical treatment to prevent the complications. In conventional method, antiviral and other treatment modalities are available; however, these are fraught with potentially severe side effects and is expensive that demands an alternative method of treatment. Methods A case series of three children with HZ treated with individualised homeopathy is presented here. The cases are reported according to HOM-CASE guidelines and followed up with photographic documentation. The Modified Naranjo Criteria for Homeopathy (MONARCH) inventory was used as a tool for assessing the causal relationship between homeopathic intervention and clinical outcome. Results All cases of HZ were successfully cured with individualised homoeopathy within 10 days without any complication. Individual curative response of the homoeopathic medicine in each case was assessed through MONARCH which demonstrated a positive causal attribution of homeopathy. Conclusion Successful results of this case series suggest a positive response of individualised homeopathic medicines in the treatment of childhood HZ. The remissions of the HZ lesion presented in this case series may be attributed to homeopathic medicines in each case. Hence, this case series could serve as a basis for further research into the role of individualised homeopathic medicine in the treatment of childhood herpes zoster.

Primary linitis plastica of the rectum: Case series with emphasis on “target sign” on MRI

Colorectal cancers are more common in the West than in Asian subcontinent. An increasing trend in the occurrence of colorectal signet cell carcinomas has been observed, exhibiting association with inflammatory bowel disease. Its distinct clinical features, pathognomonic, histologic, and radiologic appearance make it an unmissable entity. We report two such cases in the background of inflammatory bowel disease. We aim to familiarize our readers with its cross-sectional imaging features.

Coalescing skin-colored papules.

The rash's distinct clinical appearance and the patient's age pointed to an uncommon diagnosis.

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Clinical characters of somatic DNA damage repair (DDR) gene mutations in Chinese NSCLC patients.

e13665 Background: Chinese NSCLC patients displayed unique genetic profile. NSCLC patients with DNA damage repair gene mutations showed distinct clinical appearance as well as superior response to immunotherapy. This study aims to disclose distribution of DNA damage mutations as well as their clinical characters in Chinese NSCLC patients. Methods: One hundred and ten patients with pathologically confirmed NSCLC were consecutively recruited from 2016-2018 in our center. Genomic DNA was captured and sequenced for 508 cancer related genes by BGI-seq 500. Raw data was processed followed by variant calling via in-house developed pipeline. Results: 89 (of 110) patients with median age of 55 years old (33-74 years) were included into final analysis due to complete follow-up as well as sufficient FFPE tissue for successful genomic profiling. Among them, 12 patients were squamous NSCLC, 72 patients were non-squamous NSCLC. Among 89 patients, 22 patients (24.7%) carried 36 mutations in 21 DDR genes (BRCA2 n = 6, BAP1 n = 3, ARID1A n = 2, ATM n = 2, ATR n = 2, BLM n = 2, FANCF n = 2, PARP1 n = 2,BARD1 n = 1,BRCA1 n = 1,CHEK2 n = 1, FANCD2 n = 1,FANCE n = 1,FANCG n = 1,FANCM N = 1,NBN n = 1,PARP3 n = 1,POLQ n = 1,RAD50 n = 1,RAD51C n = 1), most of them belongs to homologous recombination repair pathway (n = 19, 21.34%).8 patients carried compound mutations in DDR genes. No difference was found in age of initial diagnosis between DDR mutated and DDR wild type patients. While, ever smokers (RR (95%CI): 2.12 (1.37-3.20),P = 0.003), squamous NSCLC (RR(95%CI):4.47 (1.62-12.03), P = 0.006), male (RR (95%CI): 1.77(1.23-2.44),P = 0.006) displayed significantly higher prevalence of DDR gene mutations. Only one stage I patient carried DDR mutation(P = 0.008). Conclusions: In this study, mutation spectrum of DDR genes was proposed in Chinese NSCLC patients. DDR gene mutations more possibly occurred in male, higher disease stage as well as in squamous NSCLC and smokers. These findings show potential relevance to disease prognosis which needs further investigation.

C9orf72-associated neurodegeneration in ALS-FTD: breaking new ground in ribosomal RNA and nucleolar dysfunction.

Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) are neurodegenerative diseases with distinct clinical appearance. However, both share as major genetic risk factor a C9orf72 locus intronic hexanucleotide expansion. The pathogenic pathways associated with the expansion-dependent neuronal toxicity are still poorly understood. Recent efforts to identify common threads of neuronal dysfunction have pointed towards deficits of ribosomal RNA (rRNA) biogenesis and loss of nucleolar integrity, a condition known as nucleolar stress that is an emerging shared feature among neurodegenerative diseases. Intriguingly, the C9orf72 mutation in ALS-FTD interferes with the function of the nucleolus by transcripts and dipeptide repeats (DPRs) produced by the hexanucleotide expansion. Experimental discrepancies have given rise to different hypotheses with regard to the connection of C9orf72 and nucleolar activity. In this review, we present and discuss emerging concepts concerning the impact of C9orf72 expansion on nucleolar biology. Moreover, we discuss the "nucleolar stress hypothesis," according to which nucleolar malfunction accompanies, exacerbates, or potentially triggers a degenerative phenotype. Upcoming awareness of the involvement of nucleolar stress in C9orf72 ALS-FTD could shed light into its pathogenesis, enabling potential treatment options aimed at shielding an "Achilles' heel" of neurons.

Retained Bandage Contact Lens for More than Two Years in One Eyed Patient : A Case Report

Aim of the work: this study aimed to report a case of a bandage contact lens (BCL) retained for two years and six months in its primary position, which was associated with distinct clinical appearance over the patient's only Seeing Eye. Patient and methods: a 70-year-old one-eyed female patient with a history of systemic hypertension and poor vision in the left eye due to an old trauma was presented with right eye spontaneous corneal perforation and leak. The patient was treated with cyanoacrylate corneal glue along with a bandage contact lens (BCL). For the unknown reasons, the patient did not come for a follow-up medical care and presented after two years and six months with the retention of the BCL in its original position. Results: the retained BCL developed an atypical clinical appearance in the form of granular deposits along the edges made of mixed epithelium and mucous deposition. We hypothesize that this deposition occurred as an adaptive mechanism and aided in BCL stabilization and prevention of serious contact lens-related complications. Conclusions and Importance: to our knowledge, long-term in-place retention of BCL with distinct clinical appearance has not been characterized before. Despite the long period of retention, the lens did not migrate to the local vicinity and presented any serious complications. This report highlights the importance of appropriate patient education and counselling to ensure their compliance, thereby preventing any unfavourable future complications.

Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.

Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, platelike keratotic scale separated by deep erythematous fissures. Facial features are distorted by severe ectropion, eclabium, flattened nose, and rudimentary ears. Skin barrier function is markedly impaired, which can lead to hypernatremic dehydration, impaired thermoregulation, increased metabolic demands, and increased risk of respiratory dysfunction and infection. Historically, infants with HI did not survive beyond the neonatal period; however, recent advances in neonatal intensive care and coordinated multidisciplinary management have greatly improved survival. In this review, the authors combine the growing HI literature with their collective experiences to provide a comprehensive review of the management of neonates with HI.

Congenital triangular alopecia

Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments.

Benign cementoblastoma – A rare odontogenic tumour

Benign cementoblastoma is a rare odontogenic tumour derived from odontogenic ectomesenchyme of cementoblast origin that forms cementum layer on the roots of a tooth. Benign cementoblastomas have a distinct clinical and radiographic appearance. It is important to consider them as one among the differential diagnosis in bony swellings of mandible. A case report of a 55 yr old female patient diagnosed as a case of benign cementoblastoma is presented.

FoxP3+ T regulatory cells in oral lichen planus and its correlation with the distinct clinical appearance of the lesions

The aim of this study was to evaluate the presence of FoxP3(+) cells in oral lichen planus (OLP) and to correlate the findings with clinical and histopathological features of these lesions. The sample consisted of 32 cases of OLP (17 reticular and 15 erosive cases) and 10 cases of inflammatory fibrous hyperplasia (IFH). Clinical examination, histopathological and histomorphometric analysis, and immunohistochemistry (anti-FoxP3 antibody) were performed. Cells were counted in juxtaepithelial and intraepithelial regions of the lesions, and the results are expressed as the mean and range. Most erosive lesions were keratinized and exhibited epithelial atrophy, whereas most reticular lesions were hyperkeratinized. Mean epithelial thickness and mean density of the inflammatory infiltrate were higher in reticular lesions than in erosive OLP. Juxtaepithelial FoxP3(+) cells were slightly more frequent in erosive lesions (mean: 1.7 and range: 0-9.4) than in reticular lesions (mean: 1.5 and range: 0-8.3). There was a significant difference in the frequency of these cells between OLP (mean: 1.6 and range: 0-9.4) and IFH (mean: 0.5 and range: 0-1.4) (P<0.05). The number of intraepithelial FoxP3(+) cells was higher in reticular OLP and IFH when compared with erosive lesions. The larger number of juxtaepithelial FoxP3(+) cells in OLP compared to IFH might be related to the distinct etiopathogenesis of these lesions. High disease activity or action of the oral microbiota may explain the slightly higher frequency of FoxP3(+) cells in erosive lesions.

Angioplasmocellular hyperplasia: A clinicopathologic study of 10 patients

Angioplasmocellular hyperplasia is rarely reported. The purpose of this study is to describe and analyze the clinicopathologic features of angioplasmocellular hyperplasia. The records of 10 patients (mean age, 45 years; range, 17 to 71 years) with characteristic histologic features of angioplasmocellular hyperplasia were reviewed and the histopathologic findings, clinical features, and medical histories analyzed. Formalin-fixed, paraffin-embedded specimens were examined by immunohistochemical staining. The most common clinical appearance was a single nodule with an erythematous rim. Histologically, the inflammatory infiltrate comprised mainly polyclonal plasma cells. There was vascular proliferation of capillaries and venules with varying numbers of plump endothelial cells. There were no definite predisposing factors. The number of cases was limited and all patients were Asian. Angioplasmocellular hyperplasia had a distinct clinical appearance characterized by its inflammatory rim. The nature of the infiltrating cells and distribution of blood vessels indicates that it is a form of reactive plasmocytic inflammatory vascular hyperplasia.

Infantile Hemangiomas With Minimal or Arrested Growth

To describe clinical characteristics of infantile hemangiomas with minimal or arrested growth (IH-MAGs). Retrospective case series. Ambulatory referral center at the University of California, San Francisco. Patients Infantile hemangiomas with minimal or arrested growth were defined as infantile hemangiomas with a proliferative component equaling less than 25% of their total surface area. The patients must have been at least age 2 months at the initial visit or on follow-up. Forty-two eligible patients with 47 IH-MAGs were included in the study. Medical record review was performed for demographic and gestational information, lesion size, and clinical appearance, presence of proliferation, complications, coexisting classic infantile hemangiomas, and morphologic subtype classified as localized, segmental, or indeterminate. Infantile hemangiomas with minimal or arrested growth manifested most commonly as fine or coarse telangiectatic patches. Proliferation was present in 30% (14 of 47 IH-MAGs), usually as small papules at the periphery of these hemangiomas. Sixty-eight percent (32 of 47 IH-MAGs) of them were present on the lower body. Seventeen patients had classic infantile hemangiomas at another body site. Comparison of distribution of sites of IH-MAGs showed a 26-fold (95% confidence interval, 1.9-351.5; P = .01) likelihood of having IH-MAGs on the lower body compared with classic infantile hemangiomas. Infantile hemangiomas with minimal or arrested growth have a distinct clinical appearance and a unique predilection for the lower body. Recognition of IH-MAGs will help in more accurate diagnosis of vascular birthmarks of infancy, and the presence of IH-MAGs in an individual patient does not exclude the proliferative potential of other infantile hemangiomas that may be present.

Papulosis maligna atrophicans Köhlmeier-Degos ohne Systembefall bei einer 21-jährigen Patientin

Die Papulosis maligna atrophicans Köhlmeier-Degos ist eine sehr seltene Erkrankung unbekannter Ätiologie. Sie ist durch disseminierte erythematöse Papeln, die mit atrophen porzellanweißen Narben und umgebendem teleangiektatischem Ring abheilen, an Stamm und Extremitäten charakterisiert. Bei einem Großteil der Patienten kommt es nach variabler Zeitdauer zu einem Systembefall, am häufigsten des Gastrointestinaltrakts und des Zentralnervensystems. Es wird über eine 21-jährige Patientin berichtet, bei der die Diagnose einer Papulosis maligna atrophicans anhand des distinkten klinischen Bildes und der charakteristischen histopathologischen Veränderungen gestellt wurde. Sämtliche Laboruntersuchungen inklusive der Gerinnungs-, Autoimmun- und Vaskulitisparameter blieben ebenso ohne pathologischen Befund wie die direkte Immunfluoreszenz. In dem vierjährigen Krankheitsverlauf kam es zu keinen extrakutanen Manifestationen. Es existiert bislang keine sicher effektive Therapie. Bei unserer Patientin konnten weder Kortikosteroidexterna noch Pimecrolimus Creme die Hautveränderungen beeinflussen. Unsere Patientin könnte einen der seltenen Fälle einer benignen, auf die Haut limitierten Variante der Papulosis maligna atrophicans repräsentieren.

Herpes Zoster in Childhood

Herpes zoster is caused by reactivation of latent varicella-zoster virus that resides in a dorsal root ganglion. Herpes zoster can develop any time after a primary infection. Because varicella vaccine is a live attenuated virus, herpes zoster can develop in a vaccine recipient. The incidence of herpes zoster among vaccine recipients is about 14 cases per 100,000 person-years. In young children, herpes zoster has a predilection for areas supplied by the cervical and sacral dermatomes. The most common complications are secondary bacterial infection, depigmentation, and scarring. Although the diagnosis of herpes zoster is based on a distinct clinical appearance, viral DNA analysis of the lesion by polymerase chain reaction or restriction fragment length polymorphism is necessary to differentiate wild from vaccine-type viruses. Acyclovir is the treatment of choice for herpes zoster.

Eleven cases of vesicular cutaneous lupus erythematosus in Shetland sheepdogs and rough collies: clinical management and prognosis.

A cutaneous ulcerative disease is recognized to affect the adult Shetland sheepdog and rough collie. This has a distinct clinical and histological appearance consistent with a vesicular variant of cutaneous lupus erythematosus (VCLE). Retrospective information on the clinical outcome and response to therapy was collected from 11 cases of histologically confirmed VCLE. In 8/11 dogs the onset of disease was in the summer; in three dogs recrudescence occurred in subsequent summers. In eight dogs the skin disease was judged to be 75-100% controlled with therapy after a minimum follow-up of 9 months. Successful treatment in seven of these cases comprised immunosuppressive doses of oral glucocorticoids, alone (one dog), in combination with azathioprine (five dogs) and doxycycline (one dog). One case responded to topical fluocinolone. Three dogs were euthanised for reasons directly related to the disease, one prior to initiating any therapy. Vesicular cutaneous lupus erythematosus in the rough collie and Shetland sheepdog can be a debilitating skin disease which is best managed with aggressive immunosuppressive therapy. Sun avoidance or the use of sunscreens is an important additional management recommendation.

Mucoceles and ranulas

J Oral Maxillofac Surg 61:369-378, 2003

An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC.

Hereditary non-polyposis colorectal cancer (HNPCC) is a common hereditary cancer. Genetic testing is complicated by the multiple DNA mismatch repair genes that underlie the disorder. Many suspected HNPCC families have no germ-line mutation identified. We reassessed an unusual family that appeared to have 2 individuals homozygous for a germline mutation within exon 1 of the hMLH1 gene. A few rare individuals with two inherited mutations in one of the mismatch repair genes have been reported and appear to have a distinct clinical appearance. However, there were no clinical features in the family discussed here that were consistent with constitutive lack of hMLH1. Redesigning the intronic primers for exon 1 identified a common polymorphism located within the original intronic primer site. The polymorphism prevented amplification of the wild-type allele, giving the erroneous appearance of homozygous inheritance of the mutated allele. Likewise, common intronic polymorphisms, if located within primer sequences on the chromosome harboring the HNPCC germ-line mutation could restrict amplification to only the wild-type allele, which may contribute significantly to the low success rate of identifying mutations in HNPCC families.

Distinct Radiological and Clinical Appearance of Lymphocytic Hypophysitis

Distinct Radiological and Clinical Appearance of Lymphocytic Hypophysitis

Clinical and Histopathologic Findings in Clumped Pigmentary Retinal Degeneration

To describe the clinical and histopathologic features of clumped pigmentary retinal degeneration (CPRD). Retrospective case series. Tertiary referral center. Twenty-four patients, aged 7 to 83 years, were identified from the medical record filed of the Berman-Gund Laboratory, Boston, Mass, as having the clinical features of CPRD. The autopsy eye from a 56-year-old man with CPRD was studied with light and electron microscopy. Visual acuities, visual fields, dark-adaptation thresholds, and results of electroretinograms; histopathologic study of an autopsy eye. The functional deficit of patients with CPRD seems to be similar to that of patients with typical retinitis pigmentosa. Different degrees of severity were observed among patients of similar age. The histopathologic data showed that the clinically distinct areas of clumped pigment are due to excessive accumulation of melanin granules in retinal pigment epithelial cells. Based on the distinct clinical and histopathologic appearance, CPRD should be considered as a separate form of retinal degeneration.