Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments.

Syndromic congenital ichthyoses (CI) are genetically determined disorders of cornification that are characterized by generalized scaling along with systemic symptoms. Data on congenital syndromic ichthyosis from developing countries are scarce. We aimed to assess the prevalence, phenotype-genotype correlation, and management of syndromic CI patients presenting to our outpatient during the specified period this was a retrospective study of congenital syndromic ichthyosis patients attending a dermatology clinic in a tertiary care center from 2105-2018. We reviewed epidemiological and comorbidities data, phenotype-genotype correlations, and treatments of syndromic congenital ichthyosis patients. Six patients of Syndromic CI were diagnosedamongst 86 patients of CI (8.1%). Amongst these, three patients of Sjogren-Larrson syndrome (SLS), two patients of Netherton syndrome (NS), and one of Chanarin-Dorfman disease (CDD) were reported. Next-generation sequencing (NGS) was performed with novel variants reported in one patient each of SLS, NS, and CDD. An atypical phenotype was observed in a patient with NS with associated growth hormone and adrenocorticotropic hormone deficiency but with favorable clinical response to intravenous immunoglobulin. Our reports point towards the unreported pool of genetic mutations in CI from India. Novel mutations were associated with variable cutaneous and systemic involvement.

Nevoid hyperkeratosis of male breast: Successful treatment with minocycline.

Nevoid hyperkeratosis of the nipple and/or areola (NHNA) is an uncommon disease with no definite etiology. NHNA of the male breast is rare in clinical practice. Despite being a benign disease, it is distressing for patients and therapeutically challenging for clinicians. We report a male patient with NHNA who responded favorably to minocycline treatment.

A cross-sectional study to find association of VDR gene polymorphism with non-syndromic congenital ichthyosis and with vitamin D deficiency.

Though development of vitamin D deficiency and rickets in patients with congenital ichthyosis (CI) have recently been observed, yet exact cause of such association is not properly understood. To evaluate association between Vitamin D Receptor (VDR) polymorphism and CI, and to identify risk factors responsible for development of vitamin D deficiency in ichthyosis. In this cross-sectional study, detailed history of patients and controls was noted and certain biochemical investigations were made. Immunohistochemical staining of skin tissue was done for VDR expression in epidermal and dermal region of ichthyosis patients. VDR polymorphism was assessed in all participants. Ninety-six subjects, were recruited. Mean serum vitamin D was significantly lower among ichthyosis patients. Cdx-2 polymorphism was found to be significantly associated with ichthyosis (p = 0.009). Within the diseased group, Fok-1 (p = 0.035), age (p = 0.020) and alkaline phosphatase (ALP) (p = 0.007) emerged as factors which might be associated with vitamin D deficiency. Cdx2 polymorphism was significantly associated with CI patients. Also, association of Fok-1 polymorphism along with age and raised serum ALP levels emerged as potential factors for determining CI-related vitamin D deficiency.

Palmoplantar Involvement in Leprosy: A Clinicopathological Study.

Palmoplantar involvement has been infrequently reported in leprosy and is an easily misdiagnosed entity. The institutional database of leprosy clinic from 2015 to 2018 was accessed. Details pertaining to demography, clinical presentation, comorbidities (if any), treatment received, and outcome were analyzed in leprosy patients with palmoplantar involvement. Among the 520 patients studied, the involvement of palms and/or soles was reported in 49 (9.4%) patients. Isolated palm involvement was the most frequent (26/49, 53.1%), followed by both palm and sole involvement (12/49, 24.5%) and sole involvement alone (11/49, 22.4%). A higher incidence of lepra reactions and disabilities was noted in patients with palmoplantar involvement than in those without (P < 0.0001). Palmoplantar involvement in leprosy, although uncommon, is associated with a higher risk of reactions and disabilities. A knowledge of this aspect of leprosy can help in maintaining a high index of suspicion and reduce misdiagnosis.

Causal Relationship between D-Dimers and Disease Status in Chronic Spontaneous Urticaria and Adjuvant Effect of Oral Tranexamic Acid.

INTRODUCTION: Besides autoimmunity, recent studies have reported a role of the coagulation cascade in the pathogenesis of urticaria. However, the real-world data regarding the utility of measuring D-dimer levels in patients chronic spontaneous urticaria (CSU) is missing. This study was done to evaluate the D-dimer levels of CSU patients and study the relationship between raised D-dimer levels and disease severity and treatment response. METHODS: A retrospective chart review of all adult (>18 years) CSU patients was done. Complete clinicodemographic data regarding the disease duration and treatment response were noted. Urticaria activity score over 7 days (UAS7) was used to assess disease severity. RESULTS: Of total 141 patients, D-dimer levels were raised in 46 CSU patients (32.6%) with mean D-dimer levels at baseline in these patients being 329.53 ± 546.94 ng/ml. The proportion of patients with raised plasma D-dimer levels was higher in patients with severe CSU (12.9%, 27.2%, 54.5% in mild, moderate, and severe disease, respectively P < 0.001). No significant differences were found between those with raised D-dimers and those having normal D-dimer levels with respect to age, gender, presence of angioedema, history of atopy, presence of thyroid abnormality, ASST/APST positivity, and serum IgE. CONCLUSION: D-dimer levels parallels the disease severity and can help predict the need for higher dose of antihistamines and second-line therapy in CSU patients.

Recommendations for Pediatric Dermatology Practice during COVID-19 Pandemic.

The current scenario of the coronavirus disease (COVID-19) pandemic has resulted in a huge disease burden worldwide affecting people across all age groups. Although children get infected by coronavirus, they are less commonly affected. Only 2% of cases are being reported among patients aged less than 20 years of age and childhood cases constitute around 1-5% of them. Moreover, they are less likely to be seriously affected when compared to adults, with more than 90% of them being either asymptomatic or having mild to moderate disease. This could be attributed to less exposure or sensitivity to COVID-19, varying immune response mechanisms, differences in the expression/function of the Angiotensin Converting Enzyme 2 receptors or higher antibody levels to viruses owing to exposures to multiple respiratory infections, protective role of measles and BCG vaccine, and few associated comorbidities. However, children with certain underlying medical conditions like cardiac or respiratory disease, diabetes, immunodeficiency disorders, cancer or on immunosuppressants may be at a higher risk for developing severe disease.

Impact of a Psychodermatological Education Package on the Subjective Distress, Family Burden, and Quality of Life among the Primary Caregivers of Children Affected with Epidermolysis Bullosa.

BACKGROUND: Epidermolysis bullosa (EB) has profound effect on the subjective distress, family burden, and quality of life (QOL) of the primary caregivers (PCG). Knowledgeable PCG can efficiently manage children with these skin diseases and also improve their QOL. OBJECTIVES: To assess the subjective distress, family burden, and QOL, to develop and assess the short-term effectiveness of a psycho-dermatological education package (PDEP) for the PCG of children with EB. METHODS: In this interventional study, 30 PCG of EB were assessed for subjective distress, family burden, and QOL. PDEP, a structured educational tool explaining the disease and its care and stress management, was developed by the authors for the PCG and administered to them after one month of enrolment. They were reassessed after three months and compared with the baseline assessment scores. For comparison, 37 PCG of CI were also studied. RESULTS: The mean age (years) of the subjects was 28.7 ± 6.7 for EB and 30.5 ± 4.6 for CI. The mean or median (range) baseline scores for subjective distress, family burden and QOL of PCG (n = 20) of EB were 8.4 ± 7.9, 6.5 (0-30); 28.5 ± 17.5, 24 (7-77) and 12.6 ± 6.7, 11.5 (4-28) and for PCG (n = 14) of CI were 12 ± 4.3, 38.9 ± 16.2 and 17.7 ± 3.6 respectively. The PDEP improved the QOL (p = 0.01), knowledge (p < 0.01) and practices (p < 0.001) for PCG of EB and it improved subjective distress (p < 0.001), QOL (p < 0.01) and knowledge (p < 0.01) for PCG of CI. CONCLUSIONS: PDEP is an effective educational tool in improving the QOL and knowledge of PCG, which in turn provides efficient management and psychological support to children affected with EB and CI. It should, therefore, be routinely used for educating the PCG of children with EB and CI.

Dermoscopy of Follicular Dowling-Degos Disease.

Dowling-Degos disease (DDD) is a late-onset genodermatosis characterized by hyperpigmented macules on the flexures along with scattered comedo-like lesions and pitted acneiform scars. Follicular Dowling-Degos is a rare type of DDD, with only two reports so far. It presents with follicular papules and comedo-like lesions predominantly on the face and trunk. Dermoscopy of follicular DDD shows irregular star-shaped/Chinese letter pattern pigmentation along with comedo-like lesions. Herein, we describe diagnostic clues including dermoscopy in three patients of follicular DDD which can help in differentiating it from other disorders presenting with comedo-like lesions.

A retrospective study of dermatitis herpetiformis from an immunobullous disease clinic in north India.

BACKGROUND: Indian data on dermatitis herpetiformis (DH) is not available. The aim of this study was to investigate the demographic and clinicopathological characteristics of patients with DH and to study its association with other autoimmune diseases. METHODS: All data were collected from case record forms of patients registered in immunobullous disease clinic of our institute. The diagnosis was based on characteristic clinical and immuno/histopathological features. RESULTS: A total of 65 patients were included, which constituted 9.47% of the registered patients in the immunobullous disease clinic over 3.5 years. The male to female ratio was 1.4 : 1; the average age was 44.35 ± 15.52 years. Direct immunofluorescence showed granular IgA deposits at the papillary tips in 83.07% and basement membrane zone in 12.3% patients. Sixteen (24.1%) patients had associated celiac disease, and 15 (23.07%) patients had other autoimmune comorbidities such as hypothyroidism. Forty percent of patients on strict gluten-free diet achieved remission in 2 years, while 35.4% had frequent relapses as they continued gluten intake. CONCLUSIONS: Dermatitis herpetiformis is not a rare disease in northern India as previously believed. The clinical, histological, and immunopathological characteristics of Indian DH patients are similar to those reported in Caucasian populations. The limitations of our study include an absence of genetic testing for HLA-DQ2 or DQ8, nonavailability of kits for detecting IgA specific for epidermal transglutaminase (IgA eTG), and short follow-up period.