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Background Filaggrin (FLG) gene encoding the protein filaggrin plays an important role in barrier function of the skin and its alteration is a predisposing factor for atopic dermatitis. FLG gene variants result in absent or decreased filaggrin protein. Worldwide, the prevalence of FLG variants ranges from 14 to 56%. FLG null variants are distinct in each population. Objectives To study the FLG gene polymorphisms in Indian children and attempt a genotype-phenotype correlation in atopic dermatitis. Methods This was a cross-sectional, multicentre study conducted on 75 Indian children. Demographic details, clinical features and identified FLG null variants were recorded. We performed a whole gene sequencing of the entire FLG coding region using next-generation sequencing technology. Results The prevalence of FLG null variants was 34.7%. A total of 20 different FLG loss of function variants in 26 children were documented. Sixteen (80%) variants were novel and four (20%) were previously reported in Asian and European populations. We found a statistically significant association between FLG variants with early age of onset of atopic dermatitis (P = 0.016) and elevated serum IgE levels (P = 0.051). There was no significant difference between atopic dermatitis phenotypes in children having one variant as compared to children harbouring two or more null variants. Limitation Small sample size. Conclusion Our study reports a unique set of FLG variants different from Asian and European populations, with these variants being significantly associated with an early age of onset of atopic dermatitis and elevated serum IgE levels.

Psoriasis is a common, chronic, immune-mediated, multisystem, inflammatory disorder. It affects all age groups, including infancy. In one-third of the cases, the onset of the disease is in the first and second decades of life. Childhood psoriasis significantly affects the quality of life of the child as well as that of the entire family. Pediatric psoriasis has distinct clinical presentations and evolves with time. Like in adults, chronic plaque psoriasis has been found to be the most common type of childhood psoriasis. Psoriatic plaques in children are less pruritic, smaller and thinner with less prominent scaling. In pigmented skin, the erythema is less prominent and plaques appear violaceous or hyperpigmented. Pediatric psoriasis can be associated with arthritis, metabolic syndrome, depression and anxiety. Hence all children should be screened routinely for associated comorbidities. Management of pediatric psoriasis is challenging owing to the limitation of approved therapies. 'Proactive therapy' is a recent approach in childhood-onset psoriasis that would help to prevent the severity of flare-ups, thus improving the quality of life.

Hyperphosphatemic familial tumoral calcinosis (HFTC) presents with varied neurological manifestations that have been reported in the literature like facial palsy, vision and hearing impairment, stroke, and headache. In this article, we reported a 12-year-old girl child patient with recurrent facial weakness with bilateral hearing impairment and multiple ulcerative lesions on lower limbs and elbows. On examination, she had lower motor neuron (LMN) facial palsy with conductive hearing loss. The investigations showed hyperphosphatemia (9.3 mg/dL) with normal serum calcium (10.4 mg/dL), alkaline phosphatase (147.9 U/L), parathyroid hormone (23.12 pg/mL), and renal function tests. Elevated serum calcium and phosphorus product (96.72 mg2/mL2) and elevated renal tubular reabsorption of phosphate (TMPxGFR) value (9.16) were noted. Skeletal survey showed hyperostosis in the long bone diaphysis, vertebrae, ribs, pelvic bone, skull, and facial bones with narrowing of cranial ostium, characteristically without any peri-articular soft tissue calcifications. An angiogram showed multiple intravascular calcifications. She was managed with a low-phosphate diet, sevelamer, niacinamide, acetazolamide, sucroferric oxyhydroxide to lower serum phosphate level, and topical sodium thiosulfate ectopic cutaneous calcification. Exome sequencing showed novel homozygous inframe deletion of ACG in FGF23 gene exon 3 at c.374_376 delins position (p. Asp125del) in the proband and a mutation in the heterozygous state in the mother and elder sibling, thus confirming a molecular diagnosis of HFTC. Our case had a unique neurological presentation of recurrent bilateral lower motor nerve facial palsy, hearing loss, multiple ectopic cutaneous calcifications without peri-articular deposits, multiple intravascular, intracranial, and vertebral endplate calcification, which has not been reported earlier. The proband showed a novel pathogenic variant suggesting an expanding phenotype of HFTC.

The majority of cases of multisystem inflammatory syndrome in children (MIS-C) manifest non-specific mucocutaneous features. We report the case of a 3-month-old infant presenting with purpura, acral desquamation, and scrotal ulcers. Scrotal ulcers have not been previously reported in MIS-C and add to the spectrum of cutaneous findings associated with the disorder.

Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2-CMG2/Human anthrax toxin-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in ANTXR2 gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.

Tuberous sclerosis complex is a rare autosomal dominant neurocutaneous disorder characterized by the presence of multiple tumors influencing diverse body frameworks including the central nervous system, skin, eyes, heart, lungs, kidney, and bones. It is described by cutaneous changes, neurologic conditions, and the presence of hamartomas in numerous organs. The treatment of these patients requires a multidisciplinary approach. A port-wine stain is characterized as a telangiectatic macule that manifests during childbirth and stays all throughout life. They are associated with many syndromes. This article reports a rare case of co-occurrence of tuberous sclerosis with port-wine stain in a 2-year-old baby.

Systemic mastocytosis with associated clonal hematologic non-mast cell lineage disease (SM-AHN) represents a specific subtype of mastocytosis and is extremely rare in children. We describe a 4-year-old child with systemic mastocytosis associated with Hodgkin's lymphoma. The child had cutaneous mastocytosis and lymphadenopathy without other clinical features of SM, which was diagnosed only by bone marrow examination.

Background/objectives Langerhans cell histiocytosis (LCH), a rare neoplasm of hematopoietic myeloid precursor cells, is clinically characterized by spontaneously resolving lesions to a progressive life-threatening multisystem disorder. Diagnosing LCH in children is challenging as it mimics other skin disorders. This study describes the varied clinical presentation and disease course in children less than 18 years diagnosed with LCH. Methods We performed a retrospective observational study of all cases diagnosed with LCH presenting to a children's hospital in the last 26 years. Data on history, cutaneous and systemic examination, and laboratory evaluation performed, were recorded. Results A total of 126 children diagnosed with LCH were included in the study. There were 68% cases limited only to skin, and 32% children with multisystem involvement at the initial presentation. Scaly papules were the most common morphologic finding in skin. The skeletal system was the second most common organ system to be affected. Failure to thrive was a common symptom. Progression of skin to systemic involvement was seen in 27.9%. In 76.7%, skin lesions cleared over a period of 2 to 4 years. Complete remission was seen in 56.9% of children over a period of 3 to 7 years, while 8.1% children died of complicationsand 31.8% were lost to follow-up. Conclusions Long-term follow-up in this study has shown cutaneous LCH without systemic involvement has a good prognosis. Skin involvement,along with failure to thrive, was the most common clinical presentation in our study. The skeletal system was the second most common organ system involved.

Background Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.

Pachydermoperiostosis is an inherited osseocutaneous disorder. The unusual increased levels of prostaglandin E2 due to mutations in either HPGD gene or SLCO2A1 gene are regarded as the causative factor. Our case report is about a 16-year-old boy who presented with cutis verticis gyrata, clubbing of digits, arthralgia, seborrhea, acne vulgaris, blepharoptosis, macrocheilia, column-like legs, and periosteal thickening in all long bones of the extremities characteristic of complete form of pachydermoperiostosis. No effective treatment has been proposed for this condition. Hence, counseling the child and parents about the disease progression, detecting the complications, and efficaciously managing them will be the mainstay of the treatment.

Child abuse is a broad term which describes various forms of maltreatment and neglect in children and is recognized increasingly. Physical abuse presents to dermatologists as well as pediatricians because the skin is so readily accessible for harm. Doctors unfamiliar with the wide range of skin disorders that simulate child abuse may mistakenly diagnose child abuse or “fabricated or induced illness by carers” (Munchausen by proxy), with traumatic consequences for the family. Mimics of child abuse include various cultural practices, birthmarks, bleeding disorders, bacterial infections, bullous diseases, and hereditary conditions. Dermatitis artefacta and self-harm must also be considered. Observation of the skin lesions and their evolution during hospitalization may provide the correct answer, but knowledge of the morphology and presentation of various skin disorders is crucial to avoid incorrect diagnosis of child abuse. This article describes some of the less well-known mimics of child abuse. It is essential that dermatologists support pediatricians in managing conditions that appear unusual and possibly artifactual.

A healthy 4-month-old girl presented with widespread scaly papules and a nodule over the site of BCG immunization. A diagnosis of disseminated cutaneous tuberculosis in an immunocompetent child was confirmed with biopsy. The child was treated with antituberculosis therapy without recurrence.

Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.A 2 years 10 month old girl with silvery hair syndrome presented with sub-acute onset behavioral issues, ataxia and multiple type abnormal movements. Cerebrospinal fluid examination was positive for Anti NMDA receptor antibodies. Hair shaft examination and peripheral blood film findings were suggestive of Chediak Higashi syndrome.Anti NMDA receptor encephalitis may be associated with Chediak Higashi Syndrome.

Collodion baby and harlequin fetus are two clinical entities that have characteristic appearances that mark their diagnosis. Yet, this is only the beginning of unraveling the congenital ichthyosiform dermatosis causing it, as they are mere phenotypic forms, not disease entities. Autosomal recessive ichthyosiform diseases are responsible for a majority of collodion babies. Both syndromic and nonsyndromic ichthyosis disorders cause collodion in babies; thus, these babies need to be thoroughly evaluated during hospital stay and during the follow-up period as well. The course of a collodion baby can range from self-healing to significant morbidity. It is more worse in the harlequin fetus. Neonates with both conditions need neonatal intensive care unit hospitalization. The collodion membrane gradually sheds in the majority, revealing the ichthyosis in time. Skin barrier maintenance is extremely important, as fragility of the skin leads to a sequelae of complications. Otherwise, treatment modalities depend on general care and temperature regulation, and retinoids have shown promising results. Both conditions are described, and the approach needed in evaluation of the collodion baby is highlighted.

Relation between dietary habits and pediatric dermatoses is well established in literature. Every dermatologist needs to have a thorough evidence-based knowledge of all the skin conditions that are affected by food either directly or indirectly, especially in today's world, where patients are looking for holistic solutions for all their ailments. Nutritional deficiencies, metabolic conditions, dermatitis herpetiformis, and urticaria are well-known entities related to food. Apart from these, a few skin conditions such as atopy, acne, and psoriasis have some correlation to food intake. A thorough knowledge of diet and its effect on dermatological conditions is important where alternative systems lay a lot of stress on the kinds of food that may be consumed in certain skin conditions. Parents should be counseled about the myths related to dietary modifications as this may lead to nutritional deficiencies in children.