Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India. OBJECTIVES: The aim of this study was to characterize the genotype of ARCI among patients from the Indian subcontinent. METHODS: Twenty-eight patients clinically diagnosed as ARCI were recruited prospectively from September 2017 to June 2019 (21 months). DNA was extracted from peripheral blood and analyzed for the 13 described ARCI genes-TGM1, ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, SULT2B1, and CASP14 by next-generation sequencing using an in-house panel. The variants identified were confirmed by Sanger sequencing and compared with known pathogenic variants to establish pathogenicity. We also attempted to correlate the phenotype with the genotype. RESULTS: Among the 28 patients recruited (M = 17, F = 11), we identified phenotypes of congenital ichthyosiform erythroderma in 12 (42.9%), 8 with lamellar ichthyosis (28.6%), 5 with intermediate phenotype (17.9%), and 3 with bathing suit ichthyosis (10.7%). Pathogenic and likely pathogenic variants were identified in 22 (78.6%) patients, involving 7 out of the 13 known ARCI genes while 6 (21.4%) did not have pathogenic variants. These included TGM1 mutation in 6 (21.4%), ALOX12B and ALOXE3 in 4 (14.3%) each, NIPAL4 and PNPLA1 in 3 (10.7%) each, and ABCA12 and CERS3 in 1 (3.6%) patient each. Previously unknown pathogenic variants were found in 59.1 % of patients. CONCLUSIONS: Our patients with ARCI were found to have genotypes as previously described in other populations.

Recommendations for Management of Childhood Psoriasis.

Childhood psoriasis is recognized as a potential multisystem disorder and hence it is imperative to optimize disease management to arrest progression, minimize psychological burden and evolution of metabolic syndrome. Clinical practice recommendations are necessary to assist practitioners in appropriate decision making based on available evidence. Owing to the lack of Indian recommendations on childhood psoriasis, the SIG Pediatric Dermatology under IADVL Academy undertook an evidence-based approach based on published literature on the topic, between January 2000 and July 2020 to frame the recommendations.

Two cases of CARD14-associated papulosquamous eruption from India.

Identification of CARD14-associated papulosquamous eruption (CAPE) is important as it helps in determining prognosis and management of those affected. We report two siblings with genetically confirmed CAPE presenting with treatment-resistant erythroderma in one patient and patterned psoriatic plaques with facial predominance in the other.

Relevance of trichoscopy in the differential diagnosis of alopecia: A cross-sectional study from North India.

BACKGROUND: Trichoscopy is an office tool used in the diagnosis of alopecia but its utility has not been assessed. OBJECTIVES: To compare the trichoscopic characteristics of different types of alopecia, identify features of diagnostic value, and to determine the utility of trichoscopy in the diagnosis of alopecia. METHODS: A descriptive cross-sectional study was performed in patients with alopecia. After clinical assessment and relevant investigations, trichoscopy was performed using a non-polarized trichoscope (×10). The utility of trichoscopy in difficult cases of alopecia was assessed statistically. RESULTS: One hundred and twenty patients of alopecia (90 non-cicatricial, 30 cicatricial) were recruited. The diagnosis was made on the basis of a detailed history and clinical examination, and confirmed by biopsy and relevant investigations in difficult cases. Yellow dots (63.3%) were the most common trichoscopic feature followed by thin hair (40.8%). Among the 21 difficult cases of alopecia, trichoscopy was diagnostic in 19 (90.5%). Statistically significant features on intergroup comparison included black dots (Fischer's exact test, P< 0.001), cadaverized hair (P = 0.024), exclamation mark hair (P < 0.001) in alopecia areata; diameter diversity more than 20% (P < 0.001) and thin hair (P < 0.001) in androgenetic alopecia; broken hair of different lengths (P < 0.001), frayed hair (P < 0.001), split ends (P < 0.001) in trichotillomania; comma hair (P < 0.001) in tinea capitis and arborizing blood vessels in discoid lupus erythematosus (P = 0.012). LIMITATIONS: The small number of patients in some types of alopecia was a limiting factor. CONCLUSIONS: Trichoscopy is useful in the differential diagnosis of alopecia. Among the various trichoscopic findings, those of diagnostic value were identified.