Musculocontractural type of Ehlers-Danlos syndrome with novel CHST14 pathogenic variant in two siblings.

Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.

Systemic treatments in Parthenium dermatitis: A systematic review and meta-analysis.

Parthenium dermatitis is the commonest form of plant dermatitis in India, caused by the plant Parthenium hysterophorus. Systemic immunosuppressives are commonly employed in its treatment. However, there is a relative lack of comparative head-to-head trials. This study was done to assess the relative efficacy and safety of systemic treatments in Parthenium dermatitis. We systematically reviewed all the published studies investigating the safety and efficacy of systemic treatments for Parthenium dermatitis in the Cochrane Central Register of Controlled Trials, MEDLINE, Embase, and clinical trial registries. Treatment benefit data were tabulated based on outcome measures of scoring systems. The quality of evidence for each outcome was assessed by Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria for meta-analysis. The pooled Standardized mean difference (SMD) for case series and comparative studies based on clinical severity score (CSS) for azathioprine was 4.007 (95% CI (Confidence interval): 3.141, 4.873) and 0.746 (95% CI: 0.139, 1.352), respectively. About 88.8% (95% CI: 76.8%, 100.8%, p = 0.076) of the patients had excellent or a good response to azathioprine. Our meta-analysis shows that azathioprine has the highest level of evidence in the treatment of Parthenium dermatitis.

CSF Oculorrhea Presenting as "Tearing" following the Repair of Fronto-Ethmoidal Encephalocele.

INTRODUCTION: Cerebrospinal fluid (CSF) oculorrhea is extremely rare, and very few cases have been reported mostly following trauma. There is only 1 case in the published literature where oculorrhea occurred following the repair of fronto-nasal encephalocele. CASE DESCRIPTION: A six-year-old girl presented with gradually increasing fronto-ethmoidal encephalocele with secondary papulo-nodular changes. She underwent bi-frontal craniotomy with excision of encephalocele sac and herniated gliotic brain followed by dural closure using peri-cranial graft. One month later, she presented again with swelling over the operative site and "tearing" from both her eyes. She was diagnosed with CSF oculorrhea. After failing conservative management, lumbar drain was inserted and kept on continuous drainage. Oculorrhea stopped with lumbar drain but restarted with its removal. Therefore, theco-peritoneal shunt was placed, following which oculorrhea stopped. She is doing well at 5 months' follow-up. CONCLUSION: CSF oculorrhea must be considered by the pediatric neurosurgeons in any patient who presents with "tearing" following the repair of an anterior encephalocele.

Effectiveness of autoinoculation in viral warts: A single arm, open-label, and clinical trial.

Viral warts are well-defined, hyperkeratotic mucocutaneous lesions caused by human papilloma virus infection, that can occur anywhere on the body. Various medical and surgical modalities are required for treatment of warts as spontaneous regression is rarely seen. Despite the availability of multiple treatment options, warts are often recurrent and resistant to treatment. The effectiveness of autoinoculation in the treatment of multiple or recurrent verruca was evaluated. Consecutive cases with at least five warts or recurrent warts were included. A treatment-free washout period of 1 month was ensured. Patients with verruca vulgaris (n = 13), palmoplantar (n = 4), periungual (n = 5) were included in the study. The warty tissue was excised, minced and homogenous tissue implanted in a small dermal pocket in the left forearm. Patients were evaluated every 4 weeks. The procedure was repeated at 4th and 8th week. Response was assessed at each visit and at 12th week. Fifteen cases were recruited. Majority of the patients were diagnosed with verruca vulgaris (87%, n = 13) followed by periungual warts (33%, n = 5) and palmoplantar warts (27%, n = 4). Recurrent warts were present in 73% (n = 11) patients. Average improvement at the end of 12 weeks was seen in 65% cases. Ten (67%) patients showed complete resolution of warts. In two patients, warts increased in number while on treatment. Local site infection was seen in two patients. The study is limited by its small sample size. Autoinoculation is an effective modality of treatment for multiple and recurrent warts. Furthermore, it is an effective treatment modality for periungual and plantar warts, which are usually resistant to other modalities.

Photo-patch and patch tests in patients with dermatitis over the photo-exposed areas: A study of 101 cases from a tertiary care centre in India.

BACKGROUND: Many patients with dermatitis over photo-exposed body areas are positive to many contact allergens and have a pre-existing allergic contact dermatitis. METHODS: This study included patients who presented to a tertiary centre in India with dermatitis on photo-exposed body areas suspected of chronic actinic dermatitis. Their detailed histories were recorded and cutaneous and systemic examinations were performed. Patch testing was done in all the patients and photo-patch testing was carried out in 86 patients. RESULTS: Altogether 101 patients were included (69 males, 32 females). The most common presentation was lichenified hyperpigmented plaques on the photo-exposed sites. Photosensitivity was recorded in 64 (63%) patients and summer exacerbation in 52 (52%). Exposure to the Parthenium hysterophorus weed was recorded in 70 (69%) patients, 27 (26.7%) had a history of hair dye application and 20 (20%) had a history of atopy. Photo-patch test was positive in 11 (12.8%) patients and patch testing was positive in 71 (70%). Parthenium hysterophorus was the most common allergen implicated and was positive in three (4%) photo-patch and 52 (52%) patch tests. Other positive photo-patch test allergens were perfume mix, balsam of Peru, thiuram mix, Compositae mix and promethazine hydrochloride. Other common patch test allergens were parthenolide, colophony, fragrance mix and p-phenylenediamine (PPD) base. CONCLUSION: In the Indian population parthenium and perfume mix are the most common photoallergens in patients with dermatitis over photo-exposed areas, while parthenium, colophony, fragrance mix and PPD are the common positive allergens.

Clinical profile and quality of life of patients with occupational contact dermatitis from New Delhi, India.

BACKGROUND: Data regarding occupational contact dermatitis (OCD) and its effect on quality of life (QOL) in India are limited. OBJECTIVES/AIMS: To evaluate patients with OCD and record the outcome of treatment. PATIENTS/MATERIALS/METHODS: All patients with OCD were evaluated for severity of disease (by the use of physician global assessment) and its effect on QOL (by use of the Dermatology Life Quality Index) questionnaire) at the first visit and after 3 months of treatment. RESULTS: Among 117 patients with OCD, hand eczema was present in 81.2%. Positive patch test reactions were found in 76%. The most common allergens were Parthenium hysterophorus and potassium dichromate. The most frequent diagnosis was occupational allergic contact dermatitis (OACD) (57%), caused by farming and construction work, followed by occupational irritant contact dermatitis (OICD) (24%), caused by wet work. Severe psychosocial distress was recorded in 62.5% of patients. After 3 months of treatment, 83% improved significantly, and 54% had improvement in QOL. CONCLUSIONS: Farmers were most frequently affected, followed by construction workers and housewives. OACD was found at a higher frequency than OICD. The most frequent allergens were Parthenium hysterophorus in farmers, potassium dichromate in construction workers, and vegetables in housewives. OCD has a significant impact on QOL. Patch testing, in addition to standard treatment, improves the outcome considerably.

Spongy Scalp Swelling in a Middle-Aged Female: A Case Report of Lipedematous Scalp.

Lipedematous scalp is a rare cutaneous disorder, characterized by subtle but conspicuous scalp swelling, usually associated with dysesthesia. The chronic recalcitrant nature of this condition can be extremely debilitating for the patient. We report a case of boggy scalp swelling and dysesthesia in a 37­year­old female present for five years. Magnetic resonance imaging (MRI) brain showed thickening of subcutaneous tissue of the scalp. Histopathological examination revealed thickened and edematous subcutaneous tissue, reaching up to the upper dermis. A diagnosis of lipedematous scalp was made. The patient was reassured about the benign nature of the disease and given symptomatic treatment for dysesthesia. Herein we discuss the approach to a case of boggy dysesthetic scalp swelling and the available treatment options.

Oral isotretinoin with desloratadine compared with oral isotretinoin alone in the treatment of moderate to severe acne: a randomized, assessor-blinded study.

BACKGROUND: Our aim was to measure the effectiveness of oral isotretinoin with desloratadine compared with oral isotretinoin alone in treating moderate to severe acne at a tertiary care teaching hospital in North India. In this study, 90 patients with moderate to severe acne were enrolled to participate based on their fulfilling the inclusion criteria. METHODS: A randomized, assessor-blinded, parallel-arm study was conducted. Randomization was done using computer-generated tables to allocate treatments in a 1:1 ratio. A low-dose oral isotretinoin at a dose of 0.3 mg/kg/day with tab desloratadine at 5 mg/day was applied to the study group and compared against the same patients going without the dosage when controls were conducted. Follow-up was at 4, 8, and 12 weeks. RESULTS: The primary outcome was an improved global acne grading system (GAGS) score and decreased acne lesion count. SECONDARY OUTCOME: patient satisfaction with treatment. The 90 participants were randomized and 15 participants dropped out of the study, leaving 75 participants for intention to treat analysis (n = 41, n = 30). At week 12, the GAGS score and acne lesion count between the study and control groups were comparable (P > 0.05). Pruritus reported was 9.76% in the study versus 33.33% in the control group (P = 0.018). Also, 53.66% of participants reported "excellent" treatment satisfaction in the study group versus 36.67% in the control group. CONCLUSIONS: The addition of desloratadine to an isotretinoin regimen has a role in reducing disease and therapy-related pruritus in acne and leads to improved patient satisfaction.

Pan-cancer analyses suggest kindlin-associated global mechanochemical alterations.

Kindlins serve as mechanosensitive adapters, transducing extracellular mechanical cues to intracellular biochemical signals and thus, their perturbations potentially lead to cancer progressions. Despite the kindlin involvement in tumor development, understanding their genetic and mechanochemical characteristics across different cancers remains elusive. Here, we thoroughly examined genetic alterations in kindlins across more than 10,000 patients with 33 cancer types. Our findings reveal cancer-specific alterations, particularly prevalent in advanced tumor stage and during metastatic onset. We observed a significant co-alteration between kindlins and mechanochemical proteome in various tumors through the activation of cancer-related pathways and adverse survival outcomes. Leveraging normal mode analysis, we predicted structural consequences of cancer-specific kindlin mutations, highlighting potential impacts on stability and downstream signaling pathways. Our study unraveled alterations in epithelial-mesenchymal transition markers associated with kindlin activity. This comprehensive analysis provides a resource for guiding future mechanistic investigations and therapeutic strategies targeting the roles of kindlins in cancer treatment.

Rescue treatment with intravenous immunoglobulin and amniotic membrane dressing in refractory paediatric pemphigus vulgaris with sepsis.

We report a case of refractory paediatric pemphigus vulgaris with sepsis, treated successfully with intravenous immunoglobulin (IVIG) and amniotic membrane dressing. The patient was initially started on oral prednisolone (1 mg/kg/day) and dapsone 50 mg once daily. Azathioprine 50 mg orally was then used in place of dapsone due to rapid disease progression with extensive skin involvement. However, the patient developed sepsis and azathioprine had to be discontinued. Because of rapidly progressive disease and sepsis, the patient was put on IVIG at a dose of 2 g/kg in divided doses over 3 days along with amniotic membrane dressing. There was marked improvement after 2 weeks of follow-up.

The Voice of the Lost Toe: Pseudo-Ainhum Beyond Skin.

An 11-year-old boy presented with serial autoamputations of the right 4th and 5th toes during the past 6 years. This was associated with sensory loss on the right leg and development of constriction bands around the right 2nd and 3rd digits for the past 5 months. For a year, the patient had been treated with paucibacillary, multi-drug therapy (PB-MDT) with a presumptive diagnosis of leprosy. He was born from a nonconsanguinous marriage and the birth was uneventful. The developmental milestones were normal, and no family history of any congenital anomalies was reported.

Just not cosmesis! Role of low-density lipoprotein apheresis in familial hypercholesterolemia: Experience at a newly developed tertiary care institution in Northern India.

Familial hypercholesterolemia (FH) is characterized by an increase in plasma low-density lipoprotein-cholesterol (LDL-C) levels. It presents with tendon/skin xanthomas and premature atherosclerotic cardiovascular disease. The most available treatment options for FH are lipid-lowering medications such as statins, lifestyle modification, and LDL apheresis. As per American Society for Apheresis guidelines 2019, the treatment of FH using LDL apheresis falls under Category I. Here, we are reporting an interesting case of a young patient who presented with chief complaints of progressively increasing yellowish lesions around eyes, neck, hands, and legs. She was thoroughly investigated and was diagnosed provisionally as a case of Type 2 FH. Her total serum cholesterol and LDL-C were 717.2 mg/dl and 690.6 mg/dl, respectively, at presentation. One cycle of LDL apheresis was planned for her. We found immediate post-procedural reduction of 55.8% and 55.3% for total serum and LDL cholesterol levels respectively while 70.58% and 77.41% reduction in the levels from the day of presentation to the hospital.

Analysis of submissions, editorial and peer-review process, and outcome of manuscripts submitted to the Indian Journal of Dermatology Venereology and Leprology over a 6-month period.

BACKGROUND: Despite an interest in the editorial process at biomedical journals, not much information is available on this topic. AIMS: To study the characteristics of the submissions to the Indian Journal of Dermatology Venereology and Leprology (IJDVL) and analyze the editorial and peer-review process and factors influencing the final outcome. METHODS: Retrospective review of the manuscripts submitted to the IJDVL from January 1, 2016, to June 30, 2016. RESULTS: The IJDVL received 639 manuscripts during the study period, most being Case reports (35%), Research articles (30%), and Letters to editor (20%). The proportion of submissions from Indian (53%) and foreign (47%) authors was comparable. About 55% (n = 353/639) of the submissions were editorially rejected. Some of the common reasons for editorial rejection included "sub-optimal images," "no novelty," "incomplete information or results," and "incorrect diagnosis or interpretation of results." The acceptance rate during this period was 19%. The median number of days to reach the final decision was 14 days for editorial rejection, 146 days for acceptance, and 85 days for rejection after external peer-review. The acceptance rates were higher for submissions from Indian authors [odds ratio (OR) 1.96], those submitted as Letters (OR 2.06), or in the area of tropical infections (OR 2.17). Submissions as research articles (expB = 1.23), those from Indian authors (expB = 1.15), final decision being acceptance (expB = 1.56), and those requiring preliminary author revisions (expB = 3.34), external re-reviews (expB = 2.22), and repeated author re-revisions (expB = 2.34) were associated with longer times to reach final decision. LIMITATIONS: A relatively short study period of 6 months. CONCLUSION: The IJDVL attracts submissions both from India and abroad. Articles submitted in the Letters category or related to tropical infections were most likely to be accepted. There is scope for improving the time taken for editorial processing of manuscripts.

Macular hypopigmentation, hair loss and follicular spongiosis: A distinct clinicopathological entity.

BACKGROUND: Hypopigmented macules are seen in a variety of disorders and the diagnosis rests on clinicopathological correlation. However, some cases are difficult to classify and pose a diagnostic challenge. AIM: To describe the clinical and histopathological features of patients with hypopigmented macules and follicular spongiosis on histopathology. MATERIALS AND METHODS: We undertook a retrospective analysis of clinical and histopathological findings in 12 patients who presented with clinically nondiagnostic hypopigmented macules and showed follicular spongiosis on skin biopsy, at All India Institute of Medical Sciences, New Delhi, India between January 2015 and October 2016. The findings were compared with 12 patients with "unclassified" hypopigmented macules, who did not show follicular spongiosis on skin biopsy. RESULTS: A total of 12 patients with hypopigmented macules showed spongiosis affecting the follicular epithelium on histopathology. There were eight men and four women, most in their second decade (mean age 19.1 ± 8.05 years), presenting with hypopigmented macules most commonly on the upper limbs, for a mean duration of 6.33 ± 5.10 months. Clinically evident lesional hair loss was seen in all patients, and follicular prominences in seven (58%) patients. Histological features suggestive of other diagnosis, namely leprosy, mycosis fungoides or sarcoidosis were not seen in any biopsy. Alcian blue stain revealed an minimal amount of mucin in one biopsy. Clinically apparent hair loss and follicular prominences were found to be statistically significantly associated with histological evidence of follicular spongiosis (P < 0.001 and 0.003, respectively). LIMITATIONS: Our study is limited by its retrospective design and small sample size. CONCLUSIONS: Patients with hypopigmented macules and follicular spongiosis on histopathology may represent a distinct clinicopathological entity that is associated with lesional hair loss and follicular prominences. It is probably a variant of an endogenous dermatitis similar to pityriasis alba.