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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.

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.

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.

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.

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.

Diapering practices vary among different countries from the use of cloth diapers to the modern disposable diaper. In the last few decades, diaper technology has advanced significantly thus decreasing the prevalence of diaper dermatitis. Recent innovative techniques used in the manufacturing of diapers include incorporation of superabsorbent polymer gel that can absorb 30 times its weight in liquid. Recently, smart diapers have been developed which not only prevents diaper dermatitis but significantly has reduced the burden on parents. This article reviews how changes in disposable diaper technology have improved diapering practices.

Childhood onset systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Subacute cutaneous lupus erythematosus (SCLE) is a rare subtype of juvenile onset SLE. Renal involvement is seen in 50–70% of cases of SLE in children and could be the initial presenting clinical feature in many cases. Here we present a child with lupus nephritis who later developed skin lesions suggestive of SCLE.

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.

Congenital cutaneous candidiasis (CCC) is an uncommon disease affecting newborns which manifests within first 6 days of life following an ascending infection from birth canal or as transplacental infection. Diagnosis is challenging due to its varied clinical manifestation ranging from mild asymptomatic illness to fatal disseminated disease. We describe a full-term newborn child with CCC with dissemination born to mother with vaginal candidiasis, positive for Candida ciferri by fungal culture. This highlights the importance of maternal history of vaginal discharge during pregnancy to diagnose and prevent neonatal disseminated infection which further aids for adequate early treatment to prevent subsequent mortality.

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder with multiple haemangiomas in the skin, gastrointestinal tract and other visceral organs often associated with fatal bleeding and anaemia. We report a 13-year-old female child with multiple haemangiomas on skin and gastrointestinal tract with refractory anaemia. Awareness of this entity is necessary to prevent complications.

Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty. We report a 12-year-old male child with characteristic clinical features suggestive of hereditary hypotrichosis of Marie-Unna type.

Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of transglutaminase 1 gene. Lack of Indian literature of this rare condition made us to report three cases of BSI in healthy female children who presented with ichthyotic scales on the trunk since birth with sparing of extremities.

Linear verrucous hemangioma (VH) is a rare congenital disorder of vascular malformation characterized by the presence of verrucous and vascular plaques or nodules arranged in a linear array. Clinically, the closest differential includes angiokeratoma which can be differentiated based on histopathology. We herein report a case of linear VH in a pediatric age group.

Neurocutaneous melanosis is congenital melanocytic nevus with neurological manifestations. We report a 4-year-old female child presenting with hyperpigmented and nodular skin lesion associated with developmental delay and convulsions. The child had multiple brownish-black nevi on the face and chest and giant melanocytic nevi on thoraco-abdomen, back, and gluteal region. Computed tomography scan of the brain showed calcification in the pons, right cerebellar hemisphere, and left medial temporal lobe. Skin biopsy done from nodular hyperpigmented site was suggestive of melanocytic nevi. Electroencephalogram showed multifocal epileptiform discharges.

Chromoblastomycosis is a chronic granulomatous infection of the skin and subcutaneous tissue caused by specific group of dematiaceous fungi. The infection results from traumatic injury and is seen more commonly on feet and lower legs. It is rarely seen in children and metastatic spread to other systems is exceptionally rare. We report a 12-year-old immunocompetent male child diagnosed with chromoblastomycosis on the lower leg, who in a span of few months developed osteomyelitis and left hemiparesis. Fungal culture showed growth of Exophiala spinifera. Child showed good improvement with voriconazole and itraconazole after 1 year of treatment. Skin lesions healed with minimal scarring and his power improved.

Food allergy in atopic dermatitis (AD) is debatable from decades. Role of diet in the cause and treatment of AD is controversial and is not well-defined. Allergists and pediatricians are convinced about the food allergy in AD whereas many dermatologists are contrary for this. However, there are studies in the Indian and western literature supporting the evidence that elimination diet may improve the severe type of AD. There is increasing awareness and lot of misconception among caregivers about food allergy and hence careful understanding about this concept is necessary to counsel parents. Recent evidence-based literature suggests avoidance of proven food allergens in AD could be beneficial in moderate to severe type of AD.

Erythrokeratodermia variabilis (EKV) are a rare heterogeneous group of inherited cornification disorders. They are characterized by two distinct morphological types of skin lesions: Fixed hyperkeratotic plaques and sharply marginated, pruritic, and migratory erythematous lesions. We report three cases of EKV along with a review of literature.