Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis. In this report, we show that persistent, unexplained rash, even in the absence of other clinical findings, should warrant consideration and potential workup for HLCSD.

Multiple cutaneous and hepatic hemangiomas in infants.

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.

Retrospective analysis of 32 pediatric patients with anticonvulsant hypersensitivity syndrome (ACHSS).

OBJECTIVE: To review 32 pediatric patients with anticonvulsant hypersensitivity syndrome. DESIGN: Retrospectively, data and photographs were collected on 32 patients who had been diagnosed with anticonvulsant hypersensitivity syndrome. SETTING: The sections of dermatology at Children's Memorial Hospital in Chicago, Illinois, and Children's Mercy Hospitals and Clinics in Kansas City, Missouri. MAIN OUTCOME MEASURES: Presentation, implicated medications, laboratory evaluations, complications, treatment and outcome. RESULTS: The mean age of all patients with anticonvulsant hypersensitivity syndrome (ACHSS) was 8.9 years. The mean duration of anticonvulsant therapy before onset of symptoms was 3 weeks. Phenytoin, carbamazepine, and phenobarbital were the most commonly implicated medications. Lamotrigine, oxcarbamazepine, and primidone were implicated in some of our patients. Fever and rash were seen in all patients, while lymphadenopathy was found in 84.4% of patients. Hematologic abnormalities were seen in 93.8% and hepatic involvement was seen in 90.4% of cases, representing the two most commonly involved systems. Atypical lymphocytosis and eosinophilia was seen in 72% and 56% of patients, respectively. Renal and pulmonary involvement were each seen in 15.6% of cases. Systemic steroids were used in 59.4% of ACHSS patients; 16% of patients received intravenous immunoglobulin. No deaths were reported in our group of pediatric patients. CONCLUSIONS: The ACHSS is a distinct clinical entity which may occur in pediatric patients treated with anticonvulsants, and may have potentially life-threatening consequences. Involvement of multiple organ systems, including the hematologic, hepatic, renal, and pulmonary systems was common. Treatment varied widely, but ranged from supportive care to systemic corticosteroids.

Disseminated juvenile xanthogranulomatosis in a newborn resulting in liver transplantation.

Juvenile xanthogranuloma is a histiocytic tumor that usually appears at birth or during the first year of life. Although most patients have solitary lesions, some have multiple cutaneous lesions, associated visceral lesions, or both. Although juvenile xanthogranulomas are usually confined to the skin; visceral involvement does occur in a small subset of patients and can be life threatening. We describe a newborn girl initially described as a "blueberry muffin baby" with multiple juvenile xanthogranulomas of the skin and liver that were complicated by progressive cholestasis and portal hypertension necessitating a liver transplantation.

Multicenter prospective study of ulcerated hemangiomas.

OBJECTIVE: To identify clinical features of infants with ulcerated infantile hemangiomas. STUDY DESIGN: Cross-sectional analysis was conducted within a prospective cohort study of children with infantile hemangiomas. Children younger than 12 years of age were recruited. Demographic and prenatal/perinatal information was collected. Hemangioma size, location, subtype, course, complications, and treatments were recorded. RESULTS: One thousand ninety-six patients were enrolled, and 173 (15.8%) patients experienced ulceration. Ulceration occurred in 192 (9.8%) of 1960 [corrected] total hemangiomas. Hemangiomas with ulcerations were more likely large, mixed clinical type, segmental morphologic type, and located on the lower lip, neck, or anogenital region. Ulceration occurred at a median age of 4 months, most often during the proliferative phase. Children with ulcerated hemangiomas were more likely to present to a pediatric dermatologist at a younger age and to require treatment. Bleeding occurred in 41% of ulcerated lesions but was rarely of clinical significance. Infection occurred in 16%. CONCLUSIONS: Ulceration occurs in nearly 16% of patients with infantile hemangiomas, most often by 4 months of age, during the proliferative phase. Location, size, and clinical and morphologic type are associated with an increased risk for development of ulceration.

Emerging cutaneous infections in the premature neonate.

As the age of viability of premature neonates continues to decline, early recognition of emerging cutaneous infections will become increasingly important. Fungal and bacterial infections should always be included in the differential diagnosis of unusual-appearing skin lesions in the premature neonate since prompt evaluation and aggressive therapy is paramount in this high-risk population.

Adverse effects of systemic glucocorticosteroid therapy in infants with hemangiomas.

OBJECTIVE: To evaluate the short- and long-term adverse effects of systemic glucocorticosteroid (GS) therapy in infants with hemangiomas. DESIGN: Retrospective chart review of infants treated with GSs for hemangiomas during a 3-year period. SETTING: Tertiary care children's hospital. PATIENTS: Of 141 patients identified with hemangiomas, 22 were treated with GSs. INTERVENTIONS: Minimum of 1-month GS therapy at a minimum starting dose of 0.5 mg/kg per day. OUTCOME MEASURES: Demographic and anthropometric measurements, starting dose and duration of GS therapy, subjective parental concerns, complications related to hemangioma, adjunctive treatment, and morning cortisol levels and/or results of corticotropin stimulation tests. RESULTS: The average starting dose was 2.23 mg/kg per day; average length of therapy was 28.1 weeks. Complaints of irritability, fussiness, or insomnia were identified in 16 patients (73%). Hypertension, defined as 3 or more episodes of systolic blood pressure higher than 105 mm Hg, was observed in 10 patients (45%). Morning cortisol levels were abnormal in 13 (87%) of the 15 patients evaluated. Low-dose corticotropin stimulation test results were abnormal in 2 of the 3 infants tested. CONCLUSIONS: While GS therapy for infantile hemangiomas was tolerated well overall, changes in behavior, insomnia, and gastrointestinal symptoms were common parental concerns. Hypertension and hypothalamic-pituitary-adrenal axis suppression were observed frequently. Infants undergoing long-term GS treatment of hemangiomas should be monitored carefully for these potential adverse effects.

Examining Trichophyton tonsurans genotype and biochemical phenotype as determinants of disease severity in tinea capitis.

Trichophyton tonsurans infections occur in various host populations, on various body sites and with varying degrees of inflammation. This investigation was undertaken to determine whether fungal factors could explain the degree of severity in clinical symptomatology among infected children. Otherwise healthy children (n=54) presenting with tinea capitis were enrolled in this study. A thorough history was performed, the extent and severity of infection graded and a fungal specimen collected from each child. Strain type was determined by genotyping for 11 sequence variations in the rDNA and ALP1 loci. Secreted protease activity was quantitated after 5 days of growth in aqueous medium. Forty participants were evaluable. Infection duration ranged from 1 day to 3 years and clinical severity score (CSS) from 4-19. Seventeen unique fungal genotypes were present. Keratinase, collagenase and elastase activity varied 32.7-fold, 64.9-fold and 303.3-fold, respectively. A significant association was observed between genotype and disease severity with the rDNA sequence variations accounting for over 50% of the variation observed in CSS (r2=0.539; P<0.001). Phylogenetic analyses appear to suggest that the ancestral strain types of T. tonsurans cause more severe disease. These observations are consistent with reports that recently diverge anthropophilies are associated with diminished inflammatory involvement.

Successful surgical excision of a complex vascular lesion in an infant with Kasabach-Merritt syndrome.

Kasabach-Merritt syndrome, the association of a vascular lesion and consumptive coagulopathy, can represent a diagnostic and therapeutic challenge to clinicians. We describe an infant with a large complex vascular lesion of the left forearm that was successfully surgically excised. We propose surgical excision as an appropriate therapeutic option for some cases of Kasabach-Merritt syndrome.

Prominent pruritic periumbilical papules: allergic contact dermatitis to nickel.

We report a case series of 38 children with suspected allergic contact dermatitis (ACD) to nickel who presented with prominent subumbilical and periumbilical papules and a generalized, lichenoid papular dermatitis resembling an id reaction. We speculated that this was an ACD to nickel and performed patch tests in 9 (24%) of these patients. All 9 (100%) patients had positive patch test results for nickel, thus confirming the diagnosis.