Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

BACKGROUND: PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes. METHODS: We assessed the genotype and phenotype of 9 new, 9 atypical, and 6 previously reported patients diagnosed with MiTES. Using cell lines with homozygous PRDM12 of 12A (normal), 18A (MiTES) and 19A (CIP) we examined PRDM12 aggregation and subcellular localisation by image separation confocal microscopy and sub-cellular fractionation western blotting. RESULTS: MiTES presents in the first year of life, and in all cases the condition regresses over the first decade leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12-CIP are rarely found. The genotype-phenotype study of PRDM12 polyalanine tract shows that 7A -15A are normal; 16A -18A are associated with MiTES; 19A leads to CIP; and no clinically atypical MiTES cases had an expansion. PRDM12 aggregation and sub-cellular localisation differ significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein aggregation disease. CONCLUSION: We provide diagnostic criteria for MiTES, and improved longitudinal data. MiTES and CIP are distinct phenotypes despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells.. We hypothesise that the developmental environment of the trigeminal ganglion is unique and critically sensitive to prenatal and postnatal levels of PRDM12.

Losartan as disease modulating therapy for recessive dystrophic epidermolysis bullosa.

A 6-year-old child with recessive dystrophic epidermolysis bullosa, confirmed by history, clinical exam, and antigen mapping, was treated with losartan with reduction in the blistering and better quality of life.

A fleshy papule on the eyelid.

Angiolymphoid hyperplasia with eosinophilia is an uncommon tumor affecting the head and neck region. It usually presents as solitary or multiple erythematous or brownish papules and nodules. It is considered a reactive angioproliferative disorder by some, whereas others believe it to be a neoplastic growth. Involvement of the eyelid is a rare occurrence. We report an instance of angiolymphoid hyperplasia with eosinophilia involving the eyelid in a 19-year-old woman with review of literature.

Proportionate growth of congenital nevi: Blow a balloon to explain.

Any form of congenital nevus in a child is a cause of parental anxiety. Parents are often worried about the future course of the lesion. Some of these lesions grow in extent with the child's growth and involve other body areas; others grow proportionate to the involved body part, giving an impression of apparent growth of the lesion. We use an illustrative "blowing a balloon" technique to explain the apparent growth pattern of some congenital nevi.

An Innovative Cooling Jacket to Combat Heat Intolerance in Children with Anhidrosis.

Hyperthermia and heat intolerance are distressing symptoms in patients with anhidrosis. Body cooling devices are an integral part of management of these patients. A cooling jacket made from easily available materials has been invented for a girl with congenital insensitivity to pain and anhidrosis with severe heat intolerance. This innovative cooling jacket may be helpful for anhidrotic children in resource-poor situations.

Childhood leprosy in India over the past two decades.

OBJECTIVES: Clinico-epidemiological pattern of childhood leprosy in India over the past two decades were analysed from the Indian studies conducted during the years 1990-2009. RESULTS: Twelve studies on childhood leprosy were included. Ten were conducted in health institutions and one was a community-based survey. Voluntary reporting was the principal method of case detection; community survey was adopted in two studies. Occurrence of childhood leprosy in tertiary care hospitals varied from 5.1-11.43%, in one urban clinic and the three leprosy referral hospitals it was 9.81-31.3% and peripheral surveys recorded 7.06-35.5% cases. History of familial contact was present in 0.66-47% cases. Borderline tuberculoid was the commonest clinical type, majority with single lesion. Other types were indeterminate (3.48-10.1%), borderline lepromatous (1.9-19.4%), lepromatous (0.1 to 9.38%), and pure neuritic (3.48-10.1%). Single peripheral nerve trunk was involved in 13.63-40-62% cases and multiple nerve involvement was recorded in 4.54-59.38% cases. The majority of cases were paucibacillary (43.28-98%). Multibacillary (MB) cases ranged from 2-56.6%. Slit-skin smear positive cases ranged from 5.42-25%. Lepra reactions occurred in 0-29.7% cases. Relapse rate varied between 1.16-7.1%. Deformity occurred in 0-24% cases. CONCLUSIONS: Multibacillary cases were common among Indian children, some of whom were smear positive. Probably these cases were the source of many new cases. Pure neuritic leprosy was frequent among Indian children, so also the lepra reactions and deformities. The presence of familial and extra-familial contact with leprosy cases may be a cause of concern, as it implies continuing transmission of the disease.

Childhood leprosy in the post-elimination phase: data from a tertiary health care hospital in the Karnataka state of south India.

OBJECTIVE: Children with leprosy attending a tertiary care hospital during the post-elimination period, in the Karnataka state of south India, have been studied. Data on childhood leprosy collected by the field health workers from district leprosy office during the same period through community survey was also analysed. RESULTS: In the hospital, 61 new childhood cases were diagnosed, 19.7% of the total leprosy cases (n = 309) examined during that period. Borderline tuberculoid leprosy was the commonest presentation in children. Twenty four (39.34%) were paucibacillary and 37 (60.65%) were multi-bacillary. Positive slit skin smear was obtained in 8.19%. Household contacts were identified in 18.2%. Reactions were seen in 16.4% (type 1 and 2) and 8.19% children had visible deformity. Analysis of the data collected by the field health workers showed 223 (21.25%) childhood cases (paucibacillary 69.50% and multi-bacillary 30.49%). Type 1 reaction was recorded in 4.93%. Deformities were seen in 5.82%, and 1.79% had WHO Grade 2 deformities. CONCLUSION: More multi-bacillary cases were recorded in the hospital as compared to higher number of pauci-bacillary cases by the community survey. Cases with reactions and deformities were also higher in hospital. Type 2 reaction was not recorded in community survey and WHO Grade 2 deformities were low. Patients with more severe disease might have attended the hospital by choice, resulting in the difference in data. The results indicate that transmission of leprosy is continuing in India even in this state with low endemicity. Presence of household contacts, children with multi-bacillary disease and smear positivity in childhood cases are the aspects requiring special attention.

Role of Hematological Indices as Predictors of Systemic Inflammation in Dermatology.

Hematological indices have long been used in a variety of conditions as indicators of systemic inflammation. The neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are inexpensive tools in predicting severity and disease activity in acute coronary syndrome, malignancy, coronavirus disease 2019 (COVID-19) illness, and other autoimmune conditions. Evidence suggests that such hematological indices can be used in various dermatoses as predictors of systemic inflammation, to assess the severity of the disease, prognosis, and treatment response.

Efficacy of an Artificial Intelligence App (Aysa) in Dermatological Diagnosis: Cross-Sectional Analysis.

BACKGROUND: Dermatology is an ideal specialty for artificial intelligence (AI)-driven image recognition to improve diagnostic accuracy and patient care. Lack of dermatologists in many parts of the world and the high frequency of cutaneous disorders and malignancies highlight the increasing need for AI-aided diagnosis. Although AI-based applications for the identification of dermatological conditions are widely available, research assessing their reliability and accuracy is lacking. OBJECTIVE: The aim of this study was to analyze the efficacy of the Aysa AI app as a preliminary diagnostic tool for various dermatological conditions in a semiurban town in India. METHODS: This observational cross-sectional study included patients over the age of 2 years who visited the dermatology clinic. Images of lesions from individuals with various skin disorders were uploaded to the app after obtaining informed consent. The app was used to make a patient profile, identify lesion morphology, plot the location on a human model, and answer questions regarding duration and symptoms. The app presented eight differential diagnoses, which were compared with the clinical diagnosis. The model's performance was evaluated using sensitivity, specificity, accuracy, positive predictive value, negative predictive value, and F1-score. Comparison of categorical variables was performed with the χ2 test and statistical significance was considered at P<.05. RESULTS: A total of 700 patients were part of the study. A wide variety of skin conditions were grouped into 12 categories. The AI model had a mean top-1 sensitivity of 71% (95% CI 61.5%-74.3%), top-3 sensitivity of 86.1% (95% CI 83.4%-88.6%), and all-8 sensitivity of 95.1% (95% CI 93.3%-96.6%). The top-1 sensitivities for diagnosis of skin infestations, disorders of keratinization, other inflammatory conditions, and bacterial infections were 85.7%, 85.7%, 82.7%, and 81.8%, respectively. In the case of photodermatoses and malignant tumors, the top-1 sensitivities were 33.3% and 10%, respectively. Each category had a strong correlation between the clinical diagnosis and the probable diagnoses (P<.001). CONCLUSIONS: The Aysa app showed promising results in identifying most dermatoses.

Platelet-rich Fibrin versus Platelet-rich Plasma: A Study to Assess Efficacy as a Regenerative Medicine Strategy for Chronic Cutaneous Ulcers.

Background: The management of nonhealing ulcers has been a major challenge clinically. Current therapies include debridement, offloading, etc., which show a poor response. Newer modalities include stem cells, platelet-derived growth factors, and fibrin glues, which reduce healing time. Platelets play a major role in wound healing through the secretion of growth factors, chemokines, etc. and have been an area of interest as a modality in regenerative medicine. Aims and Objective: The aim was to study the comparative efficacy of autologous platelet-rich fibrin (PRF) and platelet-rich plasma (PRP) as a regenerative medicine strategy for chronic cutaneous ulcers. Materials and Methods: Forty-four ulcers of duration greater than six weeks were enrolled for a comparative study comprising two groups, each divided either into group A receiving PRF dressings or group B receiving PRP dressing for six weeks. The ulcer evaluation was performed at baseline, each weekly dressing, and a two-week follow-up. Results: Primary efficacy was assessed by the percentage reduction in the volume of ulcers and re-epithelization at eight weeks. In total, 95.2% of ulcers in group A and 90.4% of ulcers in group B showed complete re-epithelization. One ulcer in group A and two ulcers in group B developed an infection. The recurrence of the ulcer was seen in four ulcers in the PRF group and three ulcers in the PRP group. Conclusion: Dressings done with PRF and PRP showed similar efficacy in the percentage reduction in the volume and re-epithelization of chronic cutaneous ulcers. Both dressings were associated with similar complications. PRF and PRP dressings provide a safe, efficacious, and inexpensive regenerative medicine strategy in the healing of chronic cutaneous ulcers.

Utility of Dermoscopy in Cutaneous Small Vessel Vasculitis: Preliminary Observations from a Study of 30 Cases.

Background: Dermoscopy is a non-invasive diagnostic technique that provides an added advantage to the routine clinical diagnostic exercise. Role of dermoscopy in cutaneous small vessel vasculitis has not been explored well. Objective: This study was intended to delineate the dermoscopic features of cutaneous small vessel vasculitis and to correlate them with histopathological findings of the disease. Materials and Methods: This was a cross-sectional study involving 30 patients with cutaneous small vessel vasculitis confirmed by histopathology and direct immunofluorescence. In each patient, dermoscopic features of early/evolving and established lesions were recorded. Dermoscopic-histopathological correlation was assessed for established lesions. Results: On dermoscopy, the early/evolving lesions showed a dull red background in all the 30 (100%) patients, red globules in 8 (26.7%), and red dots in 4 (13.30%) patients. The established lesions showed red background in 28 (93.3%) patients, white and yellow structureless areas in 19 (63.33%) patients each, red globules in 18 (60%), and red dots in 16 (53.3%) patients. A statistically significant association between red globules and red blood cell extravasation was noted (P-0.01). White and yellow structureless areas also showed a statistically significant association between sparse (P-0.023) and dense (P-0.007) perivascular infiltrates, respectively. Conclusion: Dermoscopy of cutaneous small vessel vasculitis exhibits fairly reliable and reproducible features correlating well with histopathological aspects of the disease. Hence, inclusion of dermoscopy in the clinical diagnostic protocol for cutaneous small vessel vasculitis is beneficial in complementing the clinical diagnosis and in differentiating from other inflammatory purpuras.

Analyzing the Predictability of an Artificial Intelligence App (Tibot) in the Diagnosis of Dermatological Conditions: A Cross-sectional Study.

BACKGROUND: Artificial intelligence (AI) aims to create programs that reproduce human cognition and processes involved in interpreting complex data. Dermatology relies on morphological features and is ideal for applying AI image recognition for assisted diagnosis. Tibot is an AI app that analyzes skin conditions and works on the principle of a convolutional neural network. Appropriate research analyzing the accuracy of such apps is necessary. OBJECTIVE: This study aims to analyze the predictability of the Tibot AI app in the identification of dermatological diseases as compared to a dermatologist. METHODS: This is a cross-sectional study. After taking informed consent, photographs of lesions of patients with different skin conditions were uploaded to the app. In every condition, the AI predicted three diagnoses based on probability, and these were compared with that by a dermatologist. The ability of the AI app to predict the actual diagnosis in the top one and top three anticipated diagnoses (prediction accuracy) was used to evaluate the app's effectiveness. Sensitivity, specificity, and positive predictive value were also used to assess the app's performance. Chi-square test was used to contrast categorical variables. P<.05 was considered statistically significant. RESULTS: A total of 600 patients were included. Clinical conditions included alopecia, acne, eczema, immunological disorders, pigmentary disorders, psoriasis, infestation, tumors, and infections. In the anticipated top three diagnoses, the app's mean prediction accuracy was 96.1% (95% CI 94.3%-97.5%), while for the exact diagnosis, it was 80.6% (95% CI 77.2%-83.7%). The prediction accuracy (top one) for alopecia, acne, pigmentary disorders, and fungal infections was 97.7%, 91.7%, 88.5%, and 82.9%, respectively. Prediction accuracy (top three) for alopecia, eczema, and tumors was 100%. The sensitivity and specificity of the app were 97% (95% CI 95%-98%) and 98% (95% CI 98%-99%), respectively. There is a statistically significant association between clinical and AI-predicted diagnoses in all conditions (P<.001). CONCLUSIONS: The AI app has shown promising results in diagnosing various dermatological conditions, and there is great potential for practical applicability.

Covid Induced Telogen Effluvium (CITE): An Insight.

Hair loss is one of the most common post-covid symptoms observed during this severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Pro-inflammatory cytokines, direct viral effect on hair follicles, and microthrombi are thought to be the pathogenic factors considered. Information regarding time of onset and severity is similar to other infection-induced acute telogen effluvium. It is reasonable to think that the evolution and prognosis are similar, and therefore, even without any specific treatment, full recovery of lost hair is expected.

RASopathies: Dermatologists' viewpoints.

Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the well-recognized RASopathies. These are characterized by multi-organ tumours and hamartomas. Some other features in common are facial dysmorphism, skeletal abnormalities, congenital heart disease, neurocognitive abnormalities and risk of various solid-organ and haematological malignancies. Some of the RASopathies are heterogeneous, caused by several gene mutations resulting in variations in phenotypes and severity ranging from mild to fatal. Significant phenotypic overlaps among different disorders, often makes it difficult to pinpoint a clinical diagnosis. Specific cutaneous manifestations are present in some of the RASopathies and are often the earliest clinical signs/symptoms. Hence, dermatologists contribute significantly as primary care physicians by identifying disorder-specific cutaneous lesions. However, diagnostic work-up and management of these disorders are often multidisciplinary. Confirmation of diagnosis is possible only by genetic mapping in each case. Genetic counseling of the patients and the affected families is an important component of the management. The aim of this review is description of cutaneous manifestations of RASopathies in the background of multi-system involvement to enable dermatologists a comprehensive and logical approach to work up and diagnose such patients in the absence of facility for specific molecular testing.

A Study of Clinical, Dermoscopic and Histopathological Correlation in Follicular Keratotic Diseases: Preliminary Observations in 30 Cases.

CONTEXT: Follicular keratotic disorder is an abnormal keratinization affecting the follicular orifices and clinically characterized by hyperkeratotic follicular papules affecting various sites. Dermoscopy is a non-invasive diagnostic tool and differentiates closely resembling diseases as well as possibly prevents need for an invasive biopsy. AIM: This study was aimed to find the correlation between clinical, dermoscopic and histopathological findings in follicular keratotic diseases and to establish the dermoscopic criteria in the diagnosis of primary follicular keratotic diseases. MATERIALS AND METHODS: This was a hospital-based prospective cross-sectional study of 30 consecutive patients clinically diagnosed with follicular keratotic diseases, irrespective of age and duration of the disease. RESULTS: The study consisted of 30 patients with a mean age of 19.57 ± 9.69 years. The most common primary follicular keratotic disease observed was phrynoderma and secondary follicular keratotic disease was follicular lichen planus (lichen planopilaris). The predominant dermoscopic finding among all the follicular keratotic diseases was perifollicular scaling 29 (96.7%) followed by keratotic plug 28 (93.3%). The most common histopathological feature was dilated follicular infundibulum 22 (73.3%) followed by follicular plug 15 (50%) and dermal perivascular infiltration 22 (73.3%). The clinical and dermoscopic features showed a significant statistical association with the histopathological findings. CONCLUSION: Dermoscopy is a simple, non-invasive diagnostic tool that helps in differentiating and diagnosing the closely resembling follicular keratotic diseases.