• A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
• A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
• A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing
• A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome
• Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders
• Abnormal lamellar granules in a case of CHILD syndrome
• An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment
• Bilateral verruciform lesions: A new CHILD syndrome presentation
• Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome
• Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1
• Cardiac anomalies in microtia patients at a tertiary pediatric care center
• Case of unilateral epidermal nevi without extracutaneous anomalies
• CHILD syndrome
• CHILD syndrome
• CHILD syndrome
• CHILD syndrome avant la lettre
• CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene
• CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase
• CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G
• CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G
• CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol
• CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis
• CHILD syndrome with minimal limb abnormalities
• CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India
• CHILD syndrome: A modified pathogenesis-targeted therapeutic approach
• CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation
• CHILD syndrome: clinical picture and diagnostic procedures
• CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole
• CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion
• CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report
• Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population
• Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel <em>AP1S1</em> Variant
• Combined novel homozygous variants in both <em>SGPL1</em> and STAT<em>1</em> presenting with severe combined immune deficiency: case report and literature review
• Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia
• Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
• Donor dominance cures CHILD nevus
• Dupilumab in paediatric Netherton syndrome: Can we do better?
• Effective treatment of Netherton syndrome in children with dupilumab: a case report and review of the literature
• Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi
• Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn
• Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland
• Expression profile of NSDHL in human peripheral tissues
• Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome
• Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome
• Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma
• Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
• Inherited ichthyosis: Syndromic forms
• Is it all MIS-C? Unusual findings in a series of nine German patients with multi-system inflammatory syndrome in children after SARS-CoV-2 infection
• Large deletions in the NSDHL gene in two patients with CHILD syndrome
• Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome
• Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene
• Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
• Limb reduction-ichthyosis, CHILD syndrome
• Living with inborn errors of cholesterol biosynthesis: lessons from adult patients
• Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation
• Maternal Supplementation of Probiotics, Prebiotics or Postbiotics to Prevent Offspring Metabolic Syndrome: The Gap between Preclinical Results and Clinical Translation
• Mild clinical presentation of a patient with a mutation in the NSDHL gene
• Mild phenotypic expression of CHILD syndrome in two generations
• Multidimensional response of Dupilumab in a child affected by Netherton syndrome: Improvement of trichorrhexis invaginata
• Multiple verruciform xanthomas in the setting of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome
• Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report
• Mutational spectrum of NSDHL in CHILD syndrome
• Mutational Spectrum of the <em>ABCA12</em> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
• Mutations in 3β-hydroxysteroid-δ8, δ7-isomerase paradoxically benefit epidermal permeability barrier homeostasis in mice
• Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome
• Netherton Syndrome in a Mother and Her Two Children
• Novel <em>NSDHL</em> gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
• Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
• Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
• Optic nerve findings in CHILD syndrome
• Oral manifestations of multisystemic inflammatory syndrome in children (MIS-C) and Kawasaki disease associated to COVID-19: A systematic review
• Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders
• Pathogenesis-based therapies in ichthyoses
• Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism
• Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab
• Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel <em>MBTPS2</em> variant in Osteogenesis imperfecta
• Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome
• Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment
• Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy
• Small intestinal mucosal xanthoma in a patient with CHILD syndrome
• Squamous cell carcinoma arising in CHILD syndrome
• Sterol metabolism disorders and neurodevelopment-an update
• Successful treatment of JAK1-associated inflammatory disease
• Surgical treatment of CHILD nevus
• Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome?
• Targeting epidermal lipids for treatment of Mendelian disorders of cornification
• The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome
• The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study
• The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome
• Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent
• Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus
• Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Quiz
• Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways
• Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses
• Verruciform xanthoma: a special epidermal nevus
• Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl
• Vulnerable child syndrome in everyday paediatric practice: A condition deserving attention and new perspectives
• Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data
• X-linked genodermatoses from diagnosis to tailored therapy