Subject(s)
Academic Medical Centers , Dermatology , Referral and Consultation , Humans , Prospective Studies , Academic Medical Centers/statistics & numerical data , Referral and Consultation/statistics & numerical data , Child , Female , Male , Child, Preschool , Skin Diseases/diagnosis , Skin Diseases/therapy , Infant , Adolescent , PediatricsABSTRACT
BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis. CASE PRESENTATION: We describe a patient presenting clinical features reminiscent of AEC syndrome in addition to recurrent infections suggestive of immune deficiency. Genetic testing for TP63, IRF6 and RIPK4 was negative. Microarray analysis revealed a 2 MB deletion on chromosome 1 (1q21.1q21.2). Clinical exome sequencing uncovered compound heterozygous variants in CHUK; a maternally-inherited frameshift variant (c.1365del, p.Arg457Aspfs*6) and a de novo missense variant (c.1388C > A, p.Thr463Lys) on the paternal allele. CONCLUSIONS: To our knowledge, this is the fourth family reported with CHUK-deficiency and the second patient with immune abnormalities. This is the first case of CHUK-deficiency with compound heterozygous pathogenic variants, including one variant that arose de novo. In comparison to cases found in the literature, this patient demonstrates a less severe phenotype than previously described.
Subject(s)
Abnormalities, Multiple/genetics , I-kappa B Kinase/genetics , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/genetics , Megalencephaly/genetics , Amino Acid Sequence , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 1/genetics , Cleft Lip/diagnosis , Cleft Lip/genetics , Cleft Palate/diagnosis , Cleft Palate/genetics , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Eye Abnormalities/diagnosis , Eye Abnormalities/genetics , Eyelids/abnormalities , Gene Frequency , Genetic Testing , Genetic Variation , Heterozygote , Humans , Immunoglobulin G/blood , Interferon Regulatory Factors/genetics , Male , Microarray Analysis , Mutation, Missense , Pedigree , Phenotype , Protein Serine-Threonine Kinases/genetics , Transcription Factors/genetics , Tumor Suppressor Proteins/geneticsABSTRACT
Radiation recall dermatitis (RRD) is an uncommon reaction typically triggered by the use of chemotherapeutic agents in the months after treatment with radiation therapy. It usually presents as dermatitis in the irradiated field with prominent intertriginous involvement, and because internal involvement occurs in up to one-third of cases, early recognition is important. RRD has rarely been reported in the pediatric literature. We report the case of a 15-month-old boy with RRD to dactinomycin.
Subject(s)
Antibiotics, Antineoplastic/adverse effects , Dactinomycin/adverse effects , Radiodermatitis/diagnosis , Humans , Infant , Kidney Neoplasms/drug therapy , Kidney Neoplasms/radiotherapy , Male , Radiodermatitis/etiology , Rhabdoid Tumor/drug therapy , Rhabdoid Tumor/radiotherapyABSTRACT
BACKGROUND: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. CASE PRESENTATION: We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E. CONCLUSION: This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.
Subject(s)
Chromosomal Instability/genetics , DNA Breaks , DNA Polymerase II/deficiency , DNA Polymerase II/genetics , Exome/genetics , Female , Homozygote , Humans , Infant , Infant, Newborn , Mutation , Poly-ADP-Ribose Binding Proteins , PregnancyABSTRACT
Scleroderma is a highly complex disorder in its clinical manifestations and pathogenesis. It has a wide range of clinical manifestations due to varying degrees of vasculopathy, autoimmunity, altered endothelium function, and abnormal fibrosis. The most widely used classification system grouped eosinophilic fasciitis and disabling pansclerotic morphea of childhood into the category of deep morphea. This previous classification does not include a category for overlapping conditions. A proposed new classification includes a new mixed subtype in which a combination of two or more of the previous subtypes is present in the same individual, although eosinophilic fasciitis has been excluded. We present the case of a 4-year-old boy who presented with features of disabling pansclerotic morphea and eosinophilic fasciitis simultaneously, which to our knowledge has not been previously reported. This suggests that these diseases are part of a more closely related continuum rather than separate disorders, as currently classified.
Subject(s)
Eosinophilia/diagnosis , Fasciitis/diagnosis , Scleroderma, Localized/diagnosis , Child, Preschool , Diagnosis, Differential , Drug Therapy, Combination , Eosinophilia/drug therapy , Eosinophilia/pathology , Fasciitis/drug therapy , Fasciitis/pathology , Glucocorticoids/therapeutic use , Humans , Immunosuppressive Agents/therapeutic use , Male , Scleroderma, Localized/drug therapy , Scleroderma, Localized/pathologyABSTRACT
OBJECTIVES: The objectives of the study were to determine the rate of hepatic hemangiomas in infants with cutaneous infantile hemangiomas that were screened by abdominal ultrasound; identify morphological subtypes and number of cutaneous infantile hemangiomas that are likely to suggest the presence of hepatic hemangiomas; and identify clinical history, physical findings, or laboratory abnormalities that may predict hepatic involvement. METHODS: A retrospective study was conducted between 2000 and 2007 on 37 infants with cutaneous hemangiomas who underwent abdominal ultrasound for hepatic hemangiomas. Infants were classified into subgroups based upon the morphology of their cutaneous hemangioma(s). Data collected included clinical history, physical examination findings, sonographic findings, laboratory results, treatment(s) rendered, and clinical outcome. RESULTS: Eight of 37 infants (22%) had hepatic hemangiomas. Infants with miliary (30-100 pinpoint/small cutaneous hemangiomas), six or more small cutaneous hemangiomas, and one large with one or more small cutaneous hemangiomas were more likely to have concurrent hepatic hemangiomas. No other clinical findings were associated with hepatic involvement. CONCLUSIONS: Similar to other studies, our study found clinically asymptomatic hepatic hemangiomas in 22% of infants with multiple cutaneous infantile hemangiomas. No clinical findings studied were predictive of hepatic involvement.
Subject(s)
Hemangioma/epidemiology , Liver Neoplasms/epidemiology , Neoplasms, Multiple Primary/epidemiology , Skin Neoplasms/epidemiology , Female , Hemangioma/diagnostic imaging , Humans , Infant , Liver/diagnostic imaging , Liver Neoplasms/diagnostic imaging , Male , Retrospective Studies , UltrasonographyABSTRACT
A 5-month-old boy with a previous history of failure to thrive and poor feeding was admitted to the hospital with failure to thrive, oral ulcers, and a generalized vesiculopustular rash that demonstrated a subcorneal pustule and neutrophilic infiltrate on histology. Esophagogastroduodenoscopy and flexible sigmoidoscopy biopsies demonstrated chronic active colitis with granulomas, consistent with the diagnosis of Crohn's disease. Our case represents, to our knowledge, the youngest person reported with this condition in association with Crohn's disease.
Subject(s)
Crohn Disease/pathology , Failure to Thrive/pathology , Leukocyte Disorders/congenital , Skin Diseases, Vesiculobullous/pathology , Crohn Disease/complications , Crohn Disease/immunology , Failure to Thrive/etiology , Failure to Thrive/immunology , Humans , Infant , Leukocyte Disorders/etiology , Leukocyte Disorders/immunology , Leukocyte Disorders/pathology , Male , Skin Diseases, Vesiculobullous/etiology , Skin Diseases, Vesiculobullous/immunologyABSTRACT
This article reviews some of the recent literature on therapeutic modalities and their efficacy in common pediatric skin conditions. Immunotherapy and laser therapy of warts and molluscum contagiosum show therapeutic promise. Bleach baths may help in eradicating Staphylococcus aureus carriage and in improving atopic dermatitis. Cephalexin continues to show efficacy even with increased incidence of community-acquired methicillin-resistant Staphylococcus aureus. More studies have looked at the use of systemic immunosuppressants for alopecia areata and vitiligo in children, although risks and benefits of therapy must be weighed. The excimer laser shows promise as a treatment modality for both alopecia areata and vitiligo.