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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.

Genetic counselling is an essential part of the management of families in whom there is an individual with epidermolysis bullosa. Indeed, it is in my view a serious error to neglect to inform all relevant members of such families of the genetic risks implied by a diagnosis of epidermolysis bullosa in one of its number.

Sir—The parents of three different children with atopic eczema seen in our paediatric dermatology clinics informed us that they were applying a product called Wau Wa cream to their children’s skin, with substantial benefit. In every case, the parents had presumed that this product was free from corticosteroids, which they believed to be harmful. One child had skin atrophy at several sites. Wau Wa cream is widely available in the UK, especially in southeast England. Its label states that it contains extract of Wau Wa root and cream, and is made in Ghana. Independent analysis shows that Wau Wa cream contains 0·013% clobetasol propionate. This corticosteroid molecule is the same as that present in one of the most potent commercially available prescription topical corticosteroid treatments, although the concentration is about a quarter of that used in the commercial preparation, in which the concentration is 0·05%. The data sheet for the prescription cream states it must not be used long term in children. The Wau Wa tree grows in Ghana and, paradoxically, causes severe dermatitis in timber workers; no therapeutic use for it is known. Clobetasol propionate is a synthetic steroid molecule and does not occur naturally; therefore, it is highly improbable that it is derived from the root of the tree. Parents are using this Wau Wa cream as an alternative to steroid treatments, unaware that is it not purely a herbal product. Doctors, under the same misconception, have recommended it to patients. Anyone known to be applying it should be made aware that it contains a potent corticosteroid that could damage the skin under certain circumstances. The Department of Health has been informed of the illegal sale of this cream. There have been previous concerns about steroids in herbal creams from China and Ireland. The wide availability of this cream emphasises the need for improved quality control for all herbal products. Also, more effective controls of the entry into the UK of illegal drugs of all types is desirable. *Justin Daniels, Debbie Shaw, David Atherton

Photography is today extensively used to record the appearance of patients' cutaneous lesions as an aid to the teaching of clinical dermatology. Before the development of photography, this function was served by illustrations and by models, particularly in wax. Such models had the great advantage of being three-dimensional, and, in the hands of the skilled craftsman, amazingly lifelike color and texture effects could be achieved. The earliest records 'of the use of wax models for teaching medicine come from the fourteenth century. Principally employed to record anatomic dissections, they owed their necessity to the joint effects of a scarcity of bodies for dissection and a lack of effective preservation technics. Originally, the great majority of such models were made by artists for the instruction of anatomy in art schools; only later were similar models commissioned for use in medical schools. The most glorious period of wax modeling came in the late eighteenth and early nineteenth centuries, when technical improvements allowed the production of large-scale models, whose component parts could be freely assembled and disassembled. From 1830, legislation was passed in many countries which made more bodies available for dissection, so that the need for wax anatomic models became less pressing; the attention of the wax modeler therefore turned elsewhere. The various medical specialties were now emerging and, among them, dermatology lent itself particularly well to the technics of the wax modeler. By the end of the nineteenth century, most major dermatology departments had acquired their own collection. Of all the modelers working at this period, the most famous was Joseph

Summary The rate of sweating from the feet of children aged 4–14 yr was measured by collecting the sweat produced at rest into weighed socks. Although individual variation was great, sweat production per unit surface area remained fairly constant throughout childhood. Sweat production per foot, however, showed an increase with age and foot size, leveling off in early adolescence. These results that the rate of sweat production from each eccrine gland increases as the foot grows. The rate of sweating from the feet of childen aged 4-14yr was measures by collecting the sweat producer at rest into weighted socks. Although individual variation was great, sweat production per unit surface area remained fairly constant throughout childhood. Sweat production per foot, however, showed an increase with age and foot size, levelling off in early adolescence. These results suggest that the rate of sweat production from each eccrine gland increases as the foot grows.

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.

The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, splice site, or nonsense mutations on both alleles. In this report, we describe a patient with HS-RDEB, who was homozygous for a new frameshift mutation, 345insG, in exon 3 of COL7A1. However, sequencing of parental DNA showed that although the patient's mother was a heterozygous carrier of this mutation, the father's DNA contained only wild-type sequence. Microsatellite marker analysis confirmed paternity and genotyping of 28 microsatellites spanning chromosome 3 revealed that the affected child was homozygous for every marker tested with all alleles originating from a single maternal chromosome 3. Thus, the HS-RDEB phenotype in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity of the mutant COL7A1 gene locus. To our knowledge, there are no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case represents only the third example of UPD of chromosome 3 to be reported. The severity of the HS-RDEB in this case was similar to other affected individuals and no additional phenotypic abnormalities were observed, suggesting an absence of maternally imprinted genes on chromosome 3.

PubMed ID: 14508707, Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions., Institute of Cancer Research Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung: 3100A0–100485 Medical Research Council, We thank all the members of the families, for their invaluable contribution to this research; N. Akarsu, T. Ball, C. Black, P. Byers, T. Hamada, M. McAvoy, J. Power, J. Prendiville, and V. Wessagowit, for assistance in obtaining samples; and A. Bateman, at the Wellcome Trust Sanger Institute, for initial Pfam analysis of CMG2. M.E.C. and F.M.P. are supported by the Medical Research Council and the Ehlers-Danlos Support Group. A.S.F. is supported by the Swiss National Science Foundation (3100A0–100485). This work was supported by Institute of Cancer Research (U.K.).

Kindler syndrome (OMIM 173650) is a rare autosomal recessive disorder characterized by trauma-induced blister formation (especially in childhood) and photosensitivity. Other features include mucocutaneous scarring and progressive poikiloderma. There is also an increased risk of skin and mucous membrane malignancy. The disorder was recently mapped to 20p12.3 and pathogenic mutations were identified in a new gene, KIND1. This gene encodes a 677 amino acid protein, kindlin-1, a component of focal contacts in keratinocytes. In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins. Haplotype analysis demonstrated common ancestral mutant alleles for each mutation, apart from one of the six Pakistani families in which the mutation 676insC (which occurs in a repeat of seven cytosines) was present on a different genetic background. All mutations were homozygous, apart from the three UK Caucasian cases that were all compound heterozygotes (second allele mutations: L302X, 1161delA, 1909delA). All mutations were associated with markedly reduced or absent skin immunostaining with an antikindlin-1 antibody. These loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity, although the mechanism linking this mutant protein to photosensitivity and poikiloderma remains to be determined. Delineation of these recurrent mutations is also relevant to optimizing mutation detection strategies in Kindler syndrome patients from particular ethnic backgrounds.

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.

Two cases are presented of congenital linear and whorled hypermelanosis. Hyperpigmented macules in streaky configurations along Blaschko's lines appeared gradually after birth. Histologic examination revealed prominent epidermal melanocytes and irregular basal layer hyperpigmentation with normal melanosomes. This condition must be differentiated from incontinentia pigmenti, early systematized epidermal nevus, extensive hypomelanosis of Ito, and chimerism. Other similar case reports from the literature suggest that incidence is sporadic and may be associated with more serious congenital anomalies. The patterning is the inverse to that found in hypomelanosis of Ito. Developmental somatic mosaicism may be responsible for this patterned hypermelanosis.

The X-linked dominant Conradi—Hunermann syndrome (CHS-XD, McKusick 30295) is characterized by ichthyosiform erythroderma at birth giving way to whorled areas of hyperkeratosis, streaky follicular atrophoderma, cicatricial alopecia and coarse lustreless hair. The facies typically shows frontal bossing, a flattened nasal bridge and malar hypoplasia. Cataracts are common. Skeletal abnormalities include the transient punctate epiphyseal calcifications, asymmetric limb shortening and short stature. According to Happle (1981), CHS-XD can be readily distinguished from an autosomal dominant form of the Conradi—Hunermann syndrome (CHS-AD, McKusick 11865) because the latter does not produce whorled/streaky skin lesions or cataracts. Differentiation between CHS-XD and autosomal recessive rhizomelic chondrodysplasia punctata (RCP, McKusick 21510) presents no serious problem: patients with RCP have severe, symmetrical proximal limb shortening, marked psychomotor retardation, mild ichthyotic skin changes and they rarely survive beyond 2 years of age.

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.

A family with Conradi-Hunermann syndrome was identified after a scaly, erythrodermic neonate was seen. Although examination of the female infant yielded no specific findings suggestive of the syndrome, her mother and maternal great-grandmother had features that allowed the diagnosis to be made. Only after 5 months did the streaky hyperkeratotic pattern characteristic of the syndrome develop in the child. Family members bore other stigmata, including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs. The pattern of inheritance in this family is compatible with that of an X-linked dominant genodermatosis with variable expression. Histopathologic findings from skin biopsy specimens were psoriasiform rather than ichthyotic. Decreased peroxisomal enzyme activity was discovered on fibroblast cultures, linking this syndrome with other peroxisomal disorders. Treatment with oral bezafibrate and clofibrate, which are potential inducers of hepatic peroxisomes, did not result in clinical improvement. It is recommended that usage of the term chondrodysplasia punctata be restricted to the descriptive radiologic finding of stippled calcifications and that Conradi-Hunermann syndrome refer only to the disease described herein, which is transmitted as an X-linked dominant trait.

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.

Two infants presented with biopsy-proven histiocytosis X affecting multiple sites. Since neither showed evidence of organ failure or of constitutional upset, no specific therapy was given. In each case there was long-lasting spontaneous regression of disease. Analysis of blood mononuclear cells revealed a raised T4:T8 (helper:suppressor T lymphocyte) ratio at diagnosis but a normal ratio during remission. These observations support the argument that multi-system histiocytosis X, even in infants (Letterer-Siwe disease), is not a malignancy and that an "expectant" treatment policy may be indicated in selected patients.

The management of atopic dermatitis (AD) traditionally involves the use of topical and, occasionally, systemic steroids. This treatment poses a major problem with adolescents with severe AD, who in our experience are very much at risk from the growth-limiting effects of corticosteroids. In the last few years we have therefore treated this category of patients with PUVA with gratifying results. We have now treated 15 children (mean age 12–6 years, range 9–16 years), of whom 10 had heights on or below the 3rd centile. Fourteen of these showed a good response, with more or less complete clearance. Five patients have enjoyed persistent remission. One patient failed to respond and treatment was withdrawn. The other nine remain on maintenance therapy, six of these requiring only one treatment per week. All the children under treatment show at least normal growth velocity, and six showed an acceleration in growth velocity during the treatment. We believe that PUVA has an important role in treating atopic dermatitis when it is severe during adolescence of the critical importance of growth at this stage.