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Infantile haemangiomas are the commonest tumours occurring in infants, but regress spontaneously without causing major problems in the great majority of cases. However, in some infants they can cause life-threatening complications. Fortunately, if the decision to treat is made promptly, and the most appropriate form of treatment selected, these complications can usually be prevented.

We report an unusual occurrence of spontaneous pigmentary regression with a desmoplastic reaction in a neonatally eroded giant congenital melanocytic nevus. This process has been documented with photographs and skin biopsy specimens. Neonatal histology demonstrated connective tissue proliferation. Histology at age 5 years also demonstrated a very high proportion of amelanotic dermal nevus cells. Regression of pigmentation in our patient may be due to a decrease in melanin production by dermal nevus cells rather than a decrease in their number.

Azathioprine is a valuable agent in the treatment of severe childhood atopic eczema. Thiopurine methyl transferase (TPMT) exhibits autosomal codominant polymorphism and plays an important role in the metabolism of azathioprine. In most large population groups studied to date, approximately 10% of the population had intermediate activity due to heterozygosity at the TPMT locus, and about 0.33% were TPMT deficient. TPMT deficiency results in the accumulation of thioguanine nucleotides and cytotoxic 6-mercaptopurine metabolites. Previously it was considered unsafe to treat this group with azathioprine because of what was considered to be an unacceptably high risk of toxicity (profound myelosuppression). Better understanding of the pharmacogenetics of purine metabolism has changed this, and with appropriate dose adjustments, individuals who have a partial TPMT deficiency (heterozygotes) can now be treated with thiopurines. It seems probable that these individuals are more likely to have a therapeutic response while being at lower risk of developing dose-related hepatotoxicity because of the reduced doses required to effect a therapeutic response. Two patients with severe refractory atopic eczema, both of whom had a partial TPMT deficiency, have had an excellent response to treatment with azathioprine. They were treated with half-standard doses and response to treatment occurred within 2 weeks.

To compare the birthweight of children affected by recessive dystrophic epidermolysis bullosa (RDEB) to a sibling control group, we designed a questionnaire-based case-control study. As participants we used patients with RDEB attending the Great Ormond Street Hospital for Children, London, England, and their nearest unaffected siblings. We found that children with RDEB are of significantly lower birthweight than their unaffected siblings, with 30% being small for their gestational age compared to 12% of controls (McNamar chi2 = 4.9, d f = 1, p = 0.02). A conditional logistic regression model was used to examine the possible effects of confounding variables. The relationship between the RDEB and standardized birthweight groups, smoking status of the mother at the time of birth, and the previous number of live births showed that the standardized birthweight group was the only significant variable in the model and was unaffected by confounding variables. Based on these findings, we concluded that the compromise in growth seen in RDEB begins in utero.

We treated two children with a total of five recurrences of erythema multiforme major with pulsed dose, systemic corticosteroid therapy on an open basis, and report herein the beneficial effects of this regime. We mean to further reevaluate this therapy on a controlled study basis.

Laryngo-onycho-cutaneous syndrome is a very rare entity found in Punjabi families. It affects the skin, nails, and larynx. Laryngeal involvement may cause lethal airway obstruction, and has in the past proved very difficult to treat. Mitomycin C is an antibiotic that acts as an alkylating agent, inhibiting DNA synthesis. It reduces fibroblast proliferation, and has previously been used to treat choanal atresia and laryngeal stenosis. We report an 18-year-old man with complete transglottic laryngeal stenosis secondary to laryngo-onycho-cutaneous syndrome. An airway was established by dissection with a bougie and sickle knife, and was initially maintained by the upper limb of a Montgomery T-tube. Laryngeal granulation tissue present on removal of the T-tube was treated with topical mitomycin C (2 mg/mL) applied for 4 minutes on two occasions with an interval of 1 month. A year later, the airway remained patent, with no granulation tissue.

In epidermolysis bullosa (EB), chronic constipation, painful defecation, and fecal impaction frequently contribute to malnutrition and growth failure. Standard treatments for constipation, such as increased intake of conventional dietary fiber and fluids and/or the use of laxatives and stool softeners, are largely unsuccessful. We evaluated by questionnaire the use of a fiber-containing liquid formula (Enrich) in 20 chronically constipated children with dystrophic EB. All derived substantial improvement in constipation when taking 250 to 750 ml Enrich per day. We recommend that such a fiber-containing food be prescribed for chronic constipation in EB. In cases of fecal impaction, this should be preceded by bowel cleansing.

A postal questionnaire, completed by parents, was used to study the prevalence of respiratory symptoms in 250 children with atopic dermatitis who had attended pediatric dermatology clinics in London within the past 5 years. A response rate of 84% was achieved. Each child had a control matched for age and sex, whose parents filled in an identical questionnaire. The prevalence of wheezing was 76% in the atopic dermatitis group and 12% in the control group. Of the children with atopic dermatitis who wheezed, 87% had been given a diagnosis of asthma by a doctor, compared with 40% of the control children who wheezed. Overall, 68% of the children with atopic dermatitis had been given a diagnosis of asthma by a doctor. This prevalence of respiratory symptoms and of diagnosed asthma is substantially higher than has been shown in previous studies. As the test population consisted of children who had been referred to a tertiary center for management of their skin disease, this higher prevalence may partially reflect the increased severity of atopic dermatitis in the study group, as well as the heightened awareness of the association between these two diseases by their parents and physicians.

Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.

Isolated, small lesions of anetoderma presenting at birth have been reported in twins born at 25 weeks of gestational age. We report the first case of widespread congenital anetoderma occurring in an infant born at 24 weeks of gestation weighing 640 g and discuss the potential factors in its etiology.

AIMS Minor gastrointestinal abnormalities have been reported in children with asthma, but the prevalence of gastrointestinal symptoms in these children has not been studied. METHODS 75 children with bronchial asthma and an age and sex matched control group were recruited. Parents completed a questionnaire on gastrointestinal symptoms and on asthma. Weight and height were measured; a clinical evaluation of asthma was undertaken and skin prick tests were performed. RESULTS Children with asthma had a significantly greater frequency of gastrointestinal symptoms, particularly diarrhoea, vomiting, and abdominal pain, than did controls. Gastrointestinal symptoms were slightly more common in children with atopic symptoms other than asthma, or with positive skin prick tests to foods. There was no association between current gastrointestinal symptoms and medications or attacks of asthma. CONCLUSIONS The occurrence of gastrointestinal symptoms appears to be common in children with asthma. These symptoms might be caused by an atopic gastroenteropathy, which might play a part in the pathogenesis of asthma in some cases.

AIMS To determine the prevalence of gastrointestinal symptoms in children with eczema and the association of such symptoms with the extent of eczema or skin prick test results. METHODS Sixty five children with atopic eczema and a control group matched for age and sex were recruited. Their parents completed a questionnaire about the children’s gastrointestinal symptoms. The children’s skin was examined; their weight, height, and abdominal circumference were measured; and skin prick tests were carried out. RESULTS Gastrointestinal symptoms, especially diarrhoea, vomiting, and regurgitation, were more common in the children with eczema. Diarrhoea appeared to be associated with the ingestion of specific foods. Gastrointestinal symptoms were related to diffuse eczema and positive skin prick tests to foods. There was no anthropometric differences between the patient and control groups. CONCLUSIONS A gastrointestinal disorder is common in children with eczema, especially with diffuse distribution. This may be responsible for substantial symptoms and may play a part in the pathogenesis of the disease and in the failure to thrive with which it is sometimes associated. Key messages Gastrointestinal symptoms are common in children with atopic eczema Gastrointestinal symptoms are more frequent in children with extensive skin disease Gastrointestinal symptoms may be troublesome and should not be ignored, albeit there is no association with failure to thrive An aetiological role for foods may be suspected in some of these children

Many dermatologists are uncomfortable with the prospect of administering phototherapy to children. We asked several physicians who prescribe phototherapy for the pediatric age group to discuss their indications, choice of modalities, and modus operandi.

In dystrophic epidermolysis bullosa (EB), a combination of diminished food intake and increased nutritional requirements commonly leads to malnourishment. Adequate nutrition in these patients could provide many benefits, including improved growth, accelerated healing, decreased susceptibility to infection, and enhanced well-being. We assessed nutrition status of children with dystrophic EB, and evaluated the benefits of nutritional advice in those who were considered malnourished. The majority of patients had inadequate intakes of a wide spectrum of nutrients, including those who appeared to be relatively mildly affected. We were unable to secure persisting substantial improvements in dietary intake despite thorough counseling. Adequate nutrition in patients with dystrophic EB depends on active nutritional support starting from birth. The need for more invasive techniques of nourishment, such as nasogastric and gastrostomy feeding, may have to be considered earlier than is currently the case.

A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-hydroxy-kynurenine, xanthurenic acid and N1-methyl nicotinamide. These results indicated a defect in the hydroxylation of kynurenine, an important reaction in the synthesis of the nicotinamide nucleotide coenzymes, NAD and NADP, from tryptophan. The patient went on to develop severe colitis and psychological changes. All her symptoms responded to treatment with nicotinamide.

Five infants with a triad of symptoms comprising generalized erythroderma, failure to thrive, and diarrhea are presented. All of these children demonstrated significant immunologic abnormalities. This is a recognizable clinical syndrome that reflects immunodeficiency; however, the responsible immunodeficiencies do not appear to be the same in every case. Early investigation and appropriate therapy may considerably reduce morbidity, and mortality in children with this syndrome.

A boy with junctional epidermolysis bullosa died from acute laryngeal obstruction at the age of 29 months, having been hoarse since early infancy. Post mortem studies showed gross narrowing of the laryngeal airway by cystic dilatations of the ducts of the seromucinous glands, and replacement of the laryngeal epithelium by oedematous granulation tissue. Laryngeal involvement appears to occur not infrequently in junctional epidermolysis bullosa, and contributes to its considerable mortality.

Severe allergic protein-losing enteropathy has been described in childhood atopic dermatitis (AD). Minor morphologic and functional abnormalities of the gastrointestinal mucosa, including altered permeability to oligosaccharides, are not uncommon in this condition, but the prevalence of occult enteric protein loss is unknown. We measured the random fecal alpha 1-antitrypsin (AAT) concentration, an indicator of enteric protein loss, in children with and without AD and found no significant difference between the groups. In half of the patients with AD, gastrointestinal permeability to oligosaccharides was also measured, and no relationship between this and fecal AAT was found.

Eczema herpeticum (EH) is a potentially life-threatening complication that may occur in children with atopic dermatitis. The clinical and laboratory features of EH as seen in 14 children are reported. The mean age of affected children was 34 months. A rapid viral diagnosis was made in 72 percent of patients. In one-third of patients there was a history of herpes labialis in one or other parent in the previous week. In 28 percent of the children, EH was initially thought to be an exacerbation or impetiginization of the underlying dermatitis. Eleven of 14 children were treated with acyclovir (intravenously in eight, orally in three). All patients recovered without sequelae.

Un cas est decrit chez une fille suivie jusqu'a l'âge actuel de 9 ans. La transmission serait donc autosomique recessive plutot que liee a l'X. Le taux de sodium dans la sueur peut etre eleve et faire croire, comme ici, dans la petite enfance a un fibrose kystique. Ce diagnostic est donc a reviser en presence d'anomalies ectodermiques. Le terme de syndrome ANOTHER est propose pour cette dysplasie: Alopecie, dystrophie ungueale (Nail), complications Ophtalmiques, dysjonction Thyroidienne, Hypohidrose, Ephelides, infections Respiratoires

We cared for an infant who was born with the Michelin-tire baby syndrome characterized by dermatomegaly and hypertrichosis. Histology revealed a diffuse smooth muscle hamartoma.

We evaluated a child with atopic dermatitis associated with protein-losing enteropathy, which responded to a chicken-based diet. Allergic gastroenteropathy is a potentially hazardous disease that may be more frequent in children with atopic dermatitis than is currently realized.